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Home , A4GALT, AARS2, ABCA12, ABCA4, ABCB11, ABCB7

UCLA Health System Clinical Exome Sequencing Enhanced Package Department of and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) MARC1 1093 80% . MARCH1 1005 100% . MARC2 1797 92% . MARCH3 802 100% . MARCH4 1249 99% . MARCH5 861 96% . MARCH6 2907 100% . MARCH7 2161 100% . MARCH8 900 100% . MARCH9 1057 73% . MARCH10 2467 100% . MARCH11 1225 56% . SEPT1 1148 100% . SEPT2 1341 100% . SEPT3 1175 100% . SEPT4 1848 96% . SEPT5 1250 94% . SEPT6 1440 96% . SEPT7 1417 96% . SEPT8 1659 98% . SEPT9 2290 96% Hereditary Neuralgic Amyotrophy SEPT10 1605 98% . SEPT11 1334 98% . SEPT12 1113 100% . SEPT14 1335 100% . SEP15 518 100% . DEC1 229 100% . A1BG 1626 82% . A1CF 1956 100% . A2LD1 466 42% . A2M 4569 100% . A2ML1 4505 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:2

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

A4GALT 1066 100% . A4GNT 1031 100% . AAAS 1705 100% Achalasia‐Addisonianism‐Alacrima Syndrome AACS 2091 94% . AADAC 1232 100% . AADACL2 1226 100% . AADACL3 1073 100% . AADACL4 1240 100% . AADAT 1342 97% . AAGAB 988 100% . AAK1 3095 100% . AAMP 1422 100% . AANAT 637 93% . AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2 AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2N AARS2 3050 100% . AARSD1 1902 98% . AASDH 3391 100% . AASDHPPT 954 100% . AASS 2873 100% AATF 1731 99% . AATK 4181 78% . ABAT 1563 100% GABA‐Transaminase Deficiency ABCA1 6991 100% ABCA1‐Associated Familial High Density Lipoprotein Deficiency ABCA1 6991 100% Familial High Density Lipoprotein Deficiency ABCA1 6991 100% ABCA10 4780 100% . ABCA12 8035 100% ABCA12‐Related Autosomal Recessive Congenital ABCA12 8035 100% Autosomal Recessive Congenital Ichthyosis ABCA12 8035 100% Harlequin Ichthyosis ABCA13 15482 99% . ABCA2 7889 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:3

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ABCA3 5261 99% ABCA3‐Related Dysfunction ABCA3 5261 99% Pulmonary Surfactant Metabolism Dysfunction ABCA4 7022 100% ABCA4‐Related ABCA4 7022 100% ABCA4‐Related 1 ABCA4 7022 100% Age‐Related ABCA4 7022 100% Age‐Related Macular Degeneration 2 ABCA4 7022 100% Cone‐Rod Dystrophy 3 ABCA4 7022 100% Retinitis Pigmentosa, Autosomal Recessive ABCA4 7022 100% Stargardt Disease, Autosomal Recessive ABCA5 5084 100% . ABCA6 5104 100% . ABCA7 6709 96% . ABCA8 4894 100% . ABCA9 5066 100% . ABCB1 3951 100% . ABCB10 2269 77% . ABCB11 4074 100% ABCB11‐Related Intrahepatic Cholestasis ABCB11 4074 100% Low Gamma‐GT Familial Intrahepatic Cholestasis ABCB4 3969 100% Progressive Familial Intrahepatic Cholestasis 3 ABCB5 3923 100% . ABCB6 2605 100% . ABCB7 2332 100% X‐Linked and Ataxia ABCB8 2221 100% . ABCB9 2551 90% . ABCC1 4720 98% . ABCC10 4655 100% . ABCC11 4265 100% . ABCC12 4200 100% . ABCC2 4781 100% Dubin‐Johnson Syndrome ABCC3 4994 99% . ABCC4 4151 99% . ABCC5 4575 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:4

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ABCC6 4646 92% ABCC8 4947 97% ABCC8‐Related Hyperinsulinism ABCC8 4947 97% ABCC8‐Related Permanent Neonatal Mellitus ABCC8 4947 97% ABCC8‐Related Transient Neonatal Diabetes Mellitus 2 ABCC8 4947 97% Familial Hyperinsulinism ABCC8 4947 97% Permanent Neonatal Diabetes Mellitus ABCC9 4944 100% ABCC9‐Related ABCC9 4944 100% Dilated Cardiomyopathy ABCD1 2436 92% , X‐Linked ABCD2 2263 100% . ABCD3 2103 100% . ABCD4 1897 100% . ABCE1 1868 100% . ABCF1 2795 94% . ABCF2 1969 100% . ABCF3 2214 100% . ABCG1 2265 95% . ABCG2 2047 100% . ABCG4 1997 100% . ABCG5 2008 91% ABCG8 2074 97% Sitosterolemia ABHD1 1278 100% . ABHD10 941 100% . ABHD11 1078 99% . ABHD12 1311 85% Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract ABHD12B 1141 91% . ABHD13 1018 100% . ABHD14A 836 91% . ABHD14B 907 98% . ABHD15 1415 88% . ABHD16A 2173 94% . ABHD16B 1414 66% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:5

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ABHD2 1314 100% . ABHD3 1266 100% . ABHD4 1057 98% . ABHD5 1097 100% Chanarin‐Dorfman Syndrome ABHD6 1046 100% . ABHD8 1336 100% . ABI1 1630 97% . ABI2 1470 100% . ABI3 1133 89% . ABI3BP 3424 100% . ABL1 3577 99% . ABL2 3827 99% . ABLIM1 2586 100% . ABLIM2 2076 99% . ABLIM3 2144 100% . ABO 7 0% . ABP1 2329 100% . ABR 2811 97% . ABRA 1154 100% . ABT1 831 100% . ABTB1 1485 97% . ABTB2 3146 90% . ACAA1 1324 93% . ACAA2 1240 92% . ACACA 7433 100% . ACACB 7670 100% . ACAD10 3357 97% . ACAD11 2440 100% . ACAD8 1292 97% Isobutyryl‐CoA Dehydrogenase Deficiency ACAD9 2330 100% Acyl‐CoA Dehydrogenase 9 Deficiency ACADL 1337 96% Long‐Chain Acyl‐CoA Dehydrogenase Deficiency ACADM 1326 100% Medium Chain Acyl‐Coenzyme A Dehydrogenase Deficiency UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:6

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ACADS 1279 96% Short Chain Acyl‐CoA Dehydrogenase Deficiency ACADSB 1343 97% Acyl‐CoA Dehydrogenase, Short/Branched Chain Deficiency ACADVL 2186 98% Very Long Chain Acyl‐Coenzyme A Dehydrogenase Deficiency ACAN 7661 87% . ACAP1 2311 95% . ACAP2 2429 98% . ACAP3 2601 82% . ACAT1 1332 94% Ketothiolase Deficiency ACAT2 1230 99% . ACBD3 1619 86% . ACBD4 1094 97% . ACBD5 1670 100% . ACBD6 881 100% . ACBD7 283 100% . ACCN1 2291 93% . ACCN2 1769 100% . ACCN3 1755 97% . ACCN4 2041 94% . ACCN5 1558 100% . ACCS 1562 100% . ACCSL 1763 100% . ACD 1842 100% . ACE 4224 95% Cardiovascular Disease Risk Factor ( Converting (ACE)) ACE2 2490 100% . ACER1 819 100% . ACER2 852 95% . ACER3 848 88% . ACHE 2171 98% . ACIN1 4249 100% . ACLY 3445 100% . ACMSD 1051 100% . ACN9 386 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:7

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ACO1 2772 100% . ACO2 2496 100% . ACOT1 1278 73% . ACOT11 2052 96% . ACOT12 1736 94% . ACOT13 436 100% . ACOT2 1464 96% . ACOT4 1278 91% . ACOT6 632 100% . ACOT7 1437 94% . ACOT8 984 100% . ACOT9 1434 99% . ACOX1 2204 100% Pseudoneonatal Adrenoleukodystrophy ACOX2 2129 100% . ACOX3 2171 94% . ACOXL 1811 99% . ACP1 683 100% . ACP2 1349 100% . ACP5 994 100% . ACP6 1327 98% . ACPL2 1464 100% . ACPP 1324 100% . ACPT 1325 86% . ACR 1286 90% . ACRBP 1672 98% . ACRC 2124 97% . ACRV1 814 100% . ACSBG1 2231 100% . ACSBG2 2053 100% . ACSF2 1912 96% . ACSF3 1820 99% . ACSL1 2216 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:8

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ACSL3 2219 100% . ACSL4 2192 100% X‐Linked Mental Retardation 63 ACSL5 2304 100% . ACSL6 2346 100% . ACSM1 1800 100% . ACSM2A 1787 100% . ACSM2B 1786 100% . ACSM3 1978 100% . ACSM4 1795 100% . ACSM5 1792 100% . ACSS1 2128 96% . ACSS2 2227 93% . ACSS3 2125 99% . ACTA1 1158 100% ACTA1‐Related Congenital Fiber‐Type Disproportion ACTA1 1158 100% ACTA1‐Related Nemaline ACTA1 1158 100% Childhood Restrictive Cardiomyopathy ACTA1 1158 100% Congenital Fiber‐Type Disproportion ACTA1 1158 100% ACTA2 1166 100% ACTA2‐Related Thoracic Aortic Aneurysms and Aortic Dissections ACTA2 1166 100% Thoracic Aortic Aneurysms and Aortic Dissections ACTB 1154 100% . ACTBL2 1135 100% . ACTC1 1158 100% ACTC1‐Related Dilated Cardiomyopathy ACTC1 1158 100% ACTC1‐Related Familial Hypertrophic Cardiomyopathy ACTC1 1158 100% Atrial Septal Defect 5 ACTC1 1158 100% Dilated Cardiomyopathy ACTC1 1158 100% Familial Hypertrophic Cardiomyopathy ACTG1 1148 100% DFNA20/26 Nonsyndromic Hearing Loss and Deafness ACTG1 1148 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant ACTG2 1264 100% . ACTL10 742 92% . ACTL6A 1355 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:9

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ACTL6B 1337 96% . ACTL7A 1312 100% . ACTL7B 1252 100% . ACTL8 1109 100% . ACTL9 1255 100% . ACTN1 2962 100% . ACTN2 2769 100% ACTN2‐Related Dilated Cardiomyopathy ACTN2 2769 100% ACTN2‐Related Familial Hypertrophic Cardiomyopathy ACTN2 2769 100% Dilated Cardiomyopathy ACTN2 2769 100% Familial Hypertrophic Cardiomyopathy ACTN3 2790 99% . ACTN4 2820 96% Focal Segmental Glomerulosclerosis ACTN4 2820 96% Focal Segmental Glomerulosclerosis 1 ACTR10 1306 100% . ACTR1A 1175 100% . ACTR1B 1179 97% . ACTR2 1240 99% . ACTR3 1305 97% . ACTR3B 1305 96% . ACTR3C 708 100% . ACTR5 1860 88% . ACTR6 1408 100% . ACTR8 1946 100% . ACTRT1 1135 100% . ACTRT2 1138 100% . ACVR1 1566 100% Fibrodysplasia Ossificans Progressiva ACVR1B 1797 99% . ACVR1C 1518 100% . ACVR2A 1586 100% . ACVR2B 1583 96% Heterotaxy Syndrome ACVRL1 1590 100% ACVRL1‐Related Hereditary Hemorrhagic Telangiectasia ACVRL1 1590 100% Hereditary Hemorrhagic Telangiectasia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:10

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ACY1 1424 100% . ACY3 984 96% . ACYP1 391 100% . ACYP2 400 100% . ADA 1140 97% Deficiency ADAD1 1775 100% . ADAD2 2042 92% . ADAL 1140 73% . ADAM10 2313 98% . ADAM11 2428 95% . ADAM12 2940 99% . ADAM15 2717 98% . ADAM17 2551 98% . ADAM18 2300 100% . ADAM19 3018 93% . ADAM2 2288 100% . ADAM20 2335 100% . ADAM21 2173 100% . ADAM22 3309 100% . ADAM23 2694 92% . ADAM28 2480 100% . ADAM29 2467 100% . ADAM30 2377 100% . ADAM32 2569 94% . ADAM33 2749 80% . ADAM7 2407 100% . ADAM8 26 0% . ADAM9 2606 100% Cone‐Rod Dystrophy 9 ADAMDEC1 1469 100% . ADAMTS1 2940 98% . ADAMTS10 3615 86% ADAMTS10‐Related Weill‐Marchesani Syndrome ADAMTS10 3615 86% Weill‐Marchesani Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:11

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ADAMTS12 4946 100% . ADAMTS13 4400 95% Familial Thrombotic Thrombocytopenia Purpura ADAMTS14 3769 95% . ADAMTS15 2885 100% . ADAMTS16 3779 96% . ADAMTS17 3376 81% . ADAMTS18 3762 96% . ADAMTS19 3731 89% . ADAMTS2 3800 88% . ADAMTS20 5922 100% . ADAMTS3 3706 100% . ADAMTS4 2613 99% . ADAMTS5 2825 98% . ADAMTS6 3607 100% . ADAMTS7 5388 94% . ADAMTS8 2938 75% . ADAMTS9 5968 98% . ADAMTSL1 5714 100% . ADAMTSL2 3078 33% Geleophysic Dysplasia ADAMTSL3 5192 100% . ADAMTSL4 3368 100% ADAMTSL4‐Related Eye Disorders ADAMTSL5 1460 85% . ADAP1 1169 79% . ADAP2 1208 92% . ADAR 3741 100% . ADARB1 2326 95% . ADARB2 2470 91% . ADAT1 1545 100% . ADAT2 600 100% . ADAT3 1060 58% . ADC 1515 100% . ADCK1 1612 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:12

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ADCK2 1913 99% . ADCK3 2000 98% CABC1‐Related Coenzyme Q10 Deficiency ADCK3 2000 98% Coenzyme Q10 Deficiency ADCK4 1691 100% . ADCK5 1803 83% . ADCY1 3440 95% . ADCY10 4977 100% . ADCY2 3376 100% . ADCY3 3522 99% . ADCY4 3358 97% . ADCY5 3958 86% . ADCY6 3888 99% . ADCY7 3343 93% . ADCY8 3828 95% . ADCY9 4102 98% . ADCYAP1 547 96% . ADCYAP1R1 1555 100% . ADD1 2408 100% . ADD2 2574 100% . ADD3 2177 100% . ADH1A 1164 100% . ADH1B 1164 100% . ADH1C 1164 100% . ADH4 1179 100% . ADH5 1161 100% . ADH6 1168 100% . ADH7 1279 96% . ADHFE1 1460 96% . ADI1 785 83% . ADIG 247 100% . ADIPOQ 743 100% . ADIPOR1 1156 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:13

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ADIPOR2 1189 100% . ADK 1151 94% . ADM 570 100% . ADM2 957 81% . ADNP 3321 100% . ADNP2 3408 100% . ADO 817 94% . ADORA1 989 100% . ADORA2A 1305 100% . ADORA2B 1007 99% . ADORA3 1790 100% . ADPGK 1581 87% . ADPRH 1086 100% . ADPRHL1 1093 99% . ADPRHL2 1116 84% . ADRA1A 1986 88% . ADRA1B 1571 80% . ADRA1D 1727 79% . ADRA2A 1402 83% . ADRA2B 1348 100% . ADRA2C 1393 77% . ADRB1 1438 84% . ADRB2 1246 100% Asthma, Susceptibility to ADRB2 1246 100% ADRB3 1235 54% . ADRBK1 2219 97% . ADRBK2 2151 99% . ADRM1 1284 100% . ADSL 1507 100% Adenylosuccinase Deficiency ADSS 1423 99% . ADSSL1 1751 83% . AEBP1 3793 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:14

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AEBP2 1598 88% . AEN 990 100% . AES 854 66% . AFAP1 2513 99% . AFAP1L1 2383 98% . AFAP1L2 2533 95% . AFF1 3758 99% . AFF2 4025 100% FRAXE Syndrome AFF3 3912 97% . AFF4 3638 100% . AFG3L2 2462 95% Type28 AFM 1856 100% . AFMID 1045 100% . AFP 1886 100% . AFTPH 2850 100% . AGA 1077 100% Aspartylglycosaminuria AGAP1 2818 100% . AGAP11 4 0% . AGAP2 3819 88% . AGAP3 3008 96% . AGAP4 2020 64% . AGAP5 2095 100% . AGAP6 2093 100% . AGAP7 2022 90% . AGAP8 1948 53% . AGAP9 4018 9% . AGBL1 3257 100% . AGBL2 2928 96% . AGBL3 2828 67% . AGBL4 1786 99% . AGBL5 2904 100% . AGER 1677 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:15

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AGFG1 1817 100% . AGFG2 1494 91% . AGGF1 2216 100% . AGK 1329 100% . AGL 4803 100% Glycogen Storage Disease Type III AGMAT 1087 89% . AGMO 1390 100% . AGPAT1 912 96% . AGPAT2 861 99% Berardinelli‐Seip Congenital Lipodystrophy AGPAT2 861 99% Berardinelli‐Seip Congenital Lipodystrophy Type 1 AGPAT3 1163 100% . AGPAT4 1301 100% . AGPAT5 1127 100% . AGPAT6 1419 95% . AGPAT9 1353 100% . AGPHD1 1144 99% . AGPS 2057 88% Rhizomelic Chondrodysplasia Punctata Type 3 AGR2 651 100% . AGR3 570 100% . AGRN 6282 83% AGRN‐Related Congenital Myasthenic Syndrome AGRP 411 100% . AGT 1474 100% Cardiovascular Disease Risk Factor (Angiotensinogen) AGTPBP1 3781 100% . AGTR1 1084 100% Cardiovascular Disease Risk Factor (Angiotensin II , Type 1) AGTR2 1096 100% X‐Linked Mental Retardation 88 AGTRAP 695 99% . AGXT 1223 88% Hyperoxaluria, Primary, Type 1 AGXT2 1601 94% . AGXT2L1 1557 100% . AGXT2L2 1427 96% . AHCTF1 6972 100% . AHCY 1339 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:16

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AHCYL1 1661 100% . AHCYL2 2026 89% . AHDC1 4816 97% . AHI1 3771 100% AHI1‐Related AHI1 3771 100% Joubert Syndrome AHNAK 17801 100% . AHNAK2 17416 99% . AHR 2591 100% . AHRR 2251 98% . AHSA1 1053 88% . AHSA2 444 100% . AHSG 1135 100% . AHSP 317 100% . AICDA 617 100% Immunodeficiency with Hyper‐IgM, Type 2 AIDA 961 96% . AIF1 508 92% . AIF1L 658 70% . AIFM1 2053 97% . AIFM2 1163 100% . AIFM3 1916 93% . AIG1 741 100% . AIM1 5252 99% . AIM1L 2685 91% . AIM2 1052 100% . AIMP1 1039 100% . AIMP2 979 100% . AIP 1017 100% Growth ‐Secreting Pituitary Adenoma AIPL1 1179 100% AIPL1‐Related Leber Congenital Amaurosis AIPL1 1179 100% AIPL1‐Related Retinitis Pigmentosa AIPL1 1179 100% Leber Congenital Amaurosis AIPL1 1179 100% Retinitis Pigmentosa, Autosomal Dominant AIRE 1982 89% Autoimmune Polyendocrinopathy Syndrome Type 1 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:17

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AJAP1 1256 100% . AJUBA 1649 85% . AK1 609 100% . AK2 753 94% . AK3 704 98% . AK4 692 99% . AK5 1745 98% . AK7 2244 100% . AK8 1492 91% . AKAP1 2760 100% . AKAP10 2049 96% . AKAP11 5750 100% . AKAP12 5390 97% . AKAP13 8718 100% . AKAP14 623 100% . AKAP17A 2297 95% . AKAP2 2906 95% . AKAP3 2574 100% . AKAP4 2589 100% . AKAP5 1288 100% . AKAP6 7089 100% . AKAP7 1184 100% . AKAP8 2135 100% . AKAP8L 1997 91% . AKAP9 12229 100% Long QT Syndrome 11 AKD1 6203 91% . AKIP1 752 100% . AKIRIN1 806 72% . AKIRIN2 632 69% . AKNA 4832 93% . AKNAD1 2571 100% . AKR1A1 1010 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:18

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AKR1B1 1097 100% . AKR1B10 991 100% . AKR1B15 1213 87% . AKR1C1 1008 91% . AKR1C2 1063 91% . AKR1C3 1009 100% . AKR1C4 1008 100% . AKR1D1 1018 100% . AKR1E2 1003 96% . AKR7A2 1108 89% . AKR7A3 1024 96% . AKT1 1495 100% . AKT1S1 794 71% . AKT2 1500 100% . AKT3 1540 100% . AKTIP 1035 100% . ALAD 1064 100% Acute Hepatic Porphyria ALAS1 2071 100% . ALAS2 1880 99% Congenital Sideroblastic Anemia ALAS2 1880 99% Erythropoietic Protoporphyria, X‐Linked Dominant ALAS2 1880 99% X‐Linked Sideroblastic Anemia ALB 1924 100% Dysalbuminemic Hyperthyroxinemia ALCAM 1817 100% . ALDH16A1 2556 90% . ALDH18A1 2456 100% . ALDH1A1 1600 100% . ALDH1A2 1610 100% . ALDH1A3 1624 92% . ALDH1B1 1558 100% . ALDH1L1 2820 95% . ALDH1L2 2864 98% . ALDH2 1606 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:19

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ALDH3A1 2004 100% . ALDH3A2 1586 98% Sjogren‐Larsson Syndrome ALDH3B1 9 0% . ALDH3B2 1190 100% . ALDH4A1 1765 91% , Type II ALDH5A1 1691 79% Succinic Semialdehyde Dehydrogenase Deficiency ALDH6A1 1656 100% . ALDH7A1 1816 98% Pyridoxine‐Dependent Seizures ALDH8A1 1493 100% . ALDH9A1 1601 100% . ALDOA 1293 100% Aldolase A Deficiency ALDOB 1149 100% Hereditary Fructose Intolerance ALDOC 1127 100% . ALG1 1447 97% ALG1‐CDG (CDG‐Ik) ALG1 1447 97% Congenital Disorders of Glycosylation ALG10 1434 100% . ALG10B 1434 100% . ALG11 1495 100% ALG11‐CDG (CDG‐Ip) ALG11 1495 100% Congenital Disorders of Glycosylation ALG12 2087 100% ALG12‐CDG (CDG‐Ig) ALG12 2087 100% Congenital Disorders of Glycosylation ALG13 3647 100% . ALG14 667 100% . ALG1L 585 100% . ALG1L2 680 96% . ALG2 1259 95% ALG2‐CDG (CDG‐Ii) ALG2 1259 95% Congenital Disorders of Glycosylation ALG3 1411 100% ALG3‐CDG (CDG‐Id) ALG3 1411 100% Congenital Disorders of Glycosylation ALG5 1015 100% . ALG6 1590 100% ALG6‐CDG (CDG‐Ic) ALG6 1590 100% Congenital Disorders of Glycosylation UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:20

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ALG8 1692 94% ALG8‐CDG (CDG‐Ih) ALG8 1692 94% Congenital Disorders of Glycosylation ALG9 1925 93% ALG9‐CDG (CDG‐IL) ALG9 1925 93% Congenital Disorders of Glycosylation ALK 5024 99% ALK‐Related Neuroblastoma Susceptibility ALK 5024 99% Neuroblastoma, Susceptibility ALKBH1 1194 100% . ALKBH2 798 100% . ALKBH3 897 100% . ALKBH4 921 100% . ALKBH5 1201 92% . ALKBH6 829 72% . ALKBH7 682 78% . ALKBH8 2045 100% . ALLC 1274 100% . ALMS1 12596 99% Alstrom Syndrome ALOX12 2090 93% . ALOX12B 2557 92% ALOX12B‐Related Autosomal Recessive Congenital Ichthyosis ALOX12B 2557 92% Autosomal Recessive Congenital Ichthyosis ALOX15 2045 93% . ALOX15B 2163 96% . ALOX5 2081 90% . ALOX5AP 507 100% . ALOXE3 2665 98% ALOXE3‐Related Autosomal Recessive Congenital Ichthyosis ALOXE3 2665 98% Autosomal Recessive Congenital Ichthyosis ALPI 1709 96% . ALPK1 3793 100% . ALPK2 6561 100% . ALPK3 5780 92% . ALPL 1619 100% Hypophosphatasia ALPP 1652 96% . ALPPL2 1643 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:21

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ALS2 5184 99% ALS2‐Related Disorders ALS2 5184 99% Amyotrophic Lateral Sclerosis ALS2CL 3307 99% . ALS2CR11 5674 100% . ALS2CR12 1394 100% . ALS2CR8 2348 100% . ALX1 997 100% . ALX3 1048 82% Frontorhiny ALX4 1252 93% Enlarged Parietal Foramina/Cranium Bifidum ALX4 1252 93% Parietal Foramina 2 ALYREF 819 68% . AMACR 1227 99% Alpha‐Methylacyl‐CoA Racemase Deficiency AMBN 1396 100% . AMBP 1099 100% . AMBRA1 3965 100% . AMD1 1041 100% . AMDHD1 1317 89% . AMDHD2 2251 95% . AMELX 642 100% Imperfecta, Hypoplastic/Hypomaturation, X‐Linked 1 AMELY 599 100% . AMFR 2756 91% . AMH 1703 59% . AMHR2 1766 100% . AMICA1 1268 100% . AMIGO1 1486 100% . AMIGO2 1573 100% . AMIGO3 1519 100% . AMMECR1 1026 96% . AMMECR1L 957 100% . AMN 1410 55% Megaloblastic Anemia AMN1 805 95% . AMOT 3316 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:22

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AMOTL1 2938 100% . AMOTL2 2440 100% . AMPD1 2407 100% Adenosine Monophosphate Deaminase 1 AMPD2 2786 100% . AMPD3 2411 99% . AMPH 2172 98% . AMT 1276 100% AMT‐Related Encephalopathy AMT 1276 100% AMTN 662 100% . AMY1A 4728 12% . AMY1B 4728 12% . AMY1C 4728 12% . AMY2A 1576 71% . AMY2B 1576 100% . AMZ1 1521 95% . AMZ2 1107 100% . ANAPC1 6023 87% . ANAPC10 574 100% . ANAPC11 603 100% . ANAPC13 233 100% . ANAPC16 345 100% . ANAPC2 2521 100% . ANAPC4 2542 100% . ANAPC5 2370 100% . ANAPC7 1848 100% . ANG 448 100% Amyotrophic Lateral Sclerosis ANG 448 100% ANG‐Related Amyotrophic Lateral Sclerosis ANGEL1 2053 97% . ANGEL2 1815 100% . ANGPT1 1533 100% . ANGPT2 1527 100% . ANGPT4 1548 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:23

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ANGPTL1 1492 100% . ANGPTL2 1498 100% . ANGPTL3 1411 100% . ANGPTL4 1249 88% . ANGPTL5 1199 100% . ANGPTL6 1433 71% . ANGPTL7 1061 100% . ANK1 6529 98% Spherocytosis, Type 1 ANK2 12295 99% Long QT Syndrome 4 ANK3 14006 98% . ANKAR 4426 100% . ANKDD1A 1680 91% . ANKFN1 2360 100% . ANKFY1 3705 97% . ANKH 1812 91% Chondrocalcinosis 2 ANKH 1812 91% Craniometaphyseal Dysplasia ANKH 1812 91% Craniometaphyseal Dysplasia, Autosomal Dominant ANKHD1 7979 99% . ANKHD1‐EIF4EBP3 8131 99% . ANKIB1 3346 100% . ANKK1 2330 98% . ANKLE1 2209 80% . ANKLE2 2869 90% . ANKMY1 3182 100% . ANKMY2 1366 100% . ANKRA2 974 100% . ANKRD1 996 100% ANKRD1‐Related Dilated Cardiomyopathy ANKRD1 996 100% Dilated Cardiomyopathy ANKRD10 1287 90% . ANKRD11 8078 96% . ANKRD12 6237 100% . ANKRD13A 1833 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:24

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ANKRD13B 1941 84% . ANKRD13C 1678 99% . ANKRD13D 1878 82% . ANKRD16 1114 94% . ANKRD17 7952 98% . ANKRD18A 3082 100% . ANKRD18B 3100 100% . ANKRD2 1119 91% . ANKRD20A1 2532 64% . ANKRD20A2 5064 18% . ANKRD20A3 7596 33% . ANKRD20A4 2532 70% . ANKRD22 600 100% . ANKRD23 954 93% . ANKRD24 3588 77% . ANKRD26 5269 100% . ANKRD27 3266 100% . ANKRD28 3274 100% . ANKRD29 946 97% . ANKRD30A 4166 93% . ANKRD30B 4323 92% . ANKRD31 5722 43% . ANKRD32 3257 100% . ANKRD33 1444 100% . ANKRD33B 1501 66% . ANKRD34A 1495 100% . ANKRD34B 1549 100% . ANKRD34C 1594 0% . ANKRD35 3058 100% . ANKRD36 5569 83% . ANKRD36B 4298 67% . ANKRD37 497 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:25

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ANKRD39 568 99% . ANKRD40 1127 100% . ANKRD42 2175 72% . ANKRD44 3249 99% . ANKRD45 837 100% . ANKRD46 699 100% . ANKRD49 728 100% . ANKRD5 2367 100% . ANKRD50 4302 100% . ANKRD52 3528 100% . ANKRD53 1748 96% . ANKRD54 1000 92% . ANKRD55 1901 100% . ANKRD6 2244 100% . ANKRD63 1147 0% . ANKRD65 6 0% . ANKRD7 820 100% . ANKRD9 958 31% . ANKS1A 3501 98% . ANKS1B 4059 100% . ANKS3 2317 92% . ANKS4B 1262 100% . ANKS6 2679 86% . ANKUB1 1663 54% . ANKZF1 2310 100% . ANLN 3583 100% . ANO1 3218 100% . ANO10 2122 95% . ANO2 3101 100% . ANO3 3054 100% . ANO4 2863 100% . ANO5 2830 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:26

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ANO5 2830 100% Limb‐Girdle Muscular Dystrophy Type 2L ANO6 3106 91% . ANO7 3126 94% . ANO8 3771 77% . ANO9 2441 93% . ANP32A 778 100% . ANP32B 784 98% . ANP32C 709 100% . ANP32D 400 100% . ANP32E 835 100% . ANPEP 2984 100% . ANTXR1 1844 97% . ANTXR2 1577 100% Hyalinosis, Inherited Systemic ANXA1 1103 100% . ANXA10 1023 100% . ANXA11 1574 100% . ANXA13 1122 100% . ANXA2 1126 97% . ANXA3 1021 100% . ANXA4 1014 100% . ANXA5 1029 100% . ANXA6 2122 100% . ANXA7 1519 100% . ANXA8 2688 7% . ANXA8L1 2688 7% . ANXA8L2 1305 33% . ANXA9 1086 100% . AOAH 2080 100% . AOC2 2287 100% . AOC3 2308 100% . AOX1 4157 99% . AP1AR 960 92% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:27

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AP1B1 3277 99% . AP1G1 2561 100% . AP1G2 2442 100% . AP1M1 1360 97% . AP1M2 1326 100% . AP1S1 497 99% . AP1S2 490 100% X‐linked Mental Retardation 59 AP1S3 523 99% . AP2A1 3032 97% . AP2A2 2943 98% . AP2B1 2940 100% . AP2M1 1476 100% . AP2S1 449 100% . AP3B1 3393 100% Hermansky‐Pudlak Syndrome AP3B1 3393 100% Hermansky‐Pudlak Syndrome 2 AP3B2 3353 96% . AP3D1 3776 96% . AP3M1 1289 100% . AP3M2 1289 100% . AP3S1 606 100% . AP3S2 606 88% . AP4B1 2260 100% . AP4E1 3498 100% . AP4M1 1457 100% . AP4S1 721 99% . APAF1 3851 100% . APBA1 2562 100% . APBA2 2433 100% . APBA3 2061 77% . APBB1 2185 100% . APBB1IP 2196 93% . APBB2 2345 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:28

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

APBB3 1528 100% . APC 8766 98% APC‐Associated Polyposis Conditions APC 8766 98% Colon Cancer (APC I1307K related) APC 8766 98% Turcot Syndrome APC2 6968 67% . APCDD1 1661 91% . APCDD1L 1522 91% . APCS 680 100% . APEH 2341 97% . APEX1 973 100% . APEX2 1581 100% . APH1A 837 99% . APH1B 798 100% . API5 1631 100% . APIP 761 100% . APITD1 437 87% . APITD1‐CORT 516 89% . APLF 1576 94% . APLN 247 71% . APLNR 1147 100% . APLP1 2024 92% . APLP2 2365 96% . APOA1 907 100% APOA1‐Associated Familial High Density Lipoprotein Deficiency APOA1 907 100% APOA1‐Related Familial Visceral Amyloidosis APOA1 907 100% Familial High Density Lipoprotein Deficiency APOA1 907 100% Familial Visceral Amyloidosis APOA1BP 1007 100% . APOA2 429 100% . APOA4 1203 100% . APOA5 1113 100% . APOB 13808 99% Familial Hypercholesterolemia Type B APOBEC1 731 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:29

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

APOBEC2 683 100% . APOBEC3A 1079 95% . APOBEC3B 1501 98% . APOBEC3C 655 100% . APOBEC3D 1189 100% . APOBEC3F 1358 98% . APOBEC3G 1187 100% . APOBEC3H 638 90% . APOBEC4 1108 100% . APOBR 3287 99% . APOC1 264 100% . APOC2 318 100% Apolipoprotein C‐II Deficiency APOC3 366 100% . APOC4 396 100% . APOD 620 100% . APOE 989 76% Alzheimer Disease Risk Factor (APOE Genotype) APOE 989 76% Alzheimer Disease Type 2 APOE 989 76% Cardiovascular Disease Risk Factor () APOF 989 100% . APOH 1070 100% . APOL1 1308 100% . APOL2 1105 100% . APOL3 1222 100% . APOL4 1109 100% . APOL5 1318 100% . APOL6 1040 100% . APOLD1 855 65% . APOM 698 94% . APOO 629 98% . APOOL 843 100% . APOPT1 641 76% . APP 2435 96% Alzheimer Disease Type 1 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:30

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

APP 2435 96% Early‐Onset Familial Alzheimer Disease APPBP2 1810 100% . APPL1 2218 97% . APPL2 2079 97% . APRT 563 79% Adenine Phosphoribosyltransferase Deficiency APTX 1116 100% Ataxia with Oculomotor Apraxia 1 AQP1 1083 100% . AQP10 1018 100% . AQP11 828 100% . AQP12A 1005 52% . AQP12B 1004 68% . AQP2 832 100% Nephrogenic AQP2 832 100% Nephrogenic Diabetes Insipidus, Autosomal AQP3 914 97% . AQP4 1013 100% . AQP5 814 100% . AQP6 865 100% . AQP7 1111 100% . AQP8 810 100% . AQP9 912 100% . AQPEP 3053 100% . AQR 4598 100% . AR 2819 95% Androgen Insensitivity Syndrome AR 2819 95% Spinal and Bulbar Muscular Atrophy ARAF 1894 99% . ARAP1 4599 94% . ARAP2 5243 100% . ARAP3 4763 100% . ARC 1195 96% . ARCN1 1576 100% . AREG 1558 65% . ARF1 562 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:31

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARF3 562 100% . ARF4 592 100% . ARF5 567 98% . ARF6 532 100% . ARFGAP1 2107 99% . ARFGAP2 1641 96% . ARFGAP3 1631 96% . ARFGEF1 5706 100% . ARFGEF2 5514 99% Periventricular Heterotopia, Autosomal Recessive ARFIP1 1154 100% . ARFIP2 1054 100% . ARFRP1 638 91% . ARG1 1025 100% Deficiency ARG2 1097 100% . ARGFX 964 87% . ARGLU1 1087 100% . ARHGAP1 1368 95% . ARHGAP10 2453 100% . ARHGAP11A 3120 100% . ARHGAP11B 828 100% . ARHGAP12 2613 100% . ARHGAP15 1480 100% . ARHGAP17 2726 98% . ARHGAP18 2052 100% . ARHGAP19 1566 100% . ARHGAP20 3636 100% . ARHGAP21 6028 100% . ARHGAP22 2792 66% . ARHGAP23 4572 50% . ARHGAP24 2445 100% . ARHGAP25 2265 99% . ARHGAP26 2537 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:32

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARHGAP27 2890 77% . ARHGAP28 1929 100% . ARHGAP29 3913 100% . ARHGAP30 3422 100% . ARHGAP31 4383 100% . ARHGAP32 6352 100% . ARHGAP33 4054 94% . ARHGAP35 4524 100% . ARHGAP36 1688 100% . ARHGAP39 3389 94% . ARHGAP4 3183 90% . ARHGAP40 1926 90% . ARHGAP42 2748 86% . ARHGAP44 2541 94% . ARHGAP5 4533 100% . ARHGAP6 3312 92% . ARHGAP8 1565 100% . ARHGAP9 2339 96% . ARHGDIA 635 100% . ARHGDIB 626 100% . ARHGDIG 702 89% . ARHGEF1 3317 96% . ARHGEF10 4335 100% . ARHGEF10L 3952 95% . ARHGEF11 4884 100% . ARHGEF12 4799 100% . ARHGEF15 2586 100% . ARHGEF16 2186 87% . ARHGEF17 6276 94% . ARHGEF18 3598 89% . ARHGEF19 2676 90% . ARHGEF2 3049 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:33

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARHGEF25 2025 99% . ARHGEF26 2676 100% . ARHGEF3 2117 85% . ARHGEF33 2677 91% . ARHGEF35 1459 73% . ARHGEF37 2076 100% . ARHGEF38 2394 100% . ARHGEF4 2269 97% . ARHGEF40 4652 100% . ARHGEF5 4850 63% . ARHGEF6 2419 100% X‐Linked Mental Retardation 46 ARHGEF7 2787 96% . ARHGEF9 1599 100% ARHGEF9‐Related Hyperekplexia ARHGEF9 1599 100% Hyperekplexia ARID1A 6940 88% . ARID1B 6943 82% . ARID2 5596 100% . ARID3A 1814 85% . ARID3B 1839 100% . ARID3C 1267 93% . ARID4A 3866 100% . ARID4B 4031 100% . ARID5A 2129 87% . ARID5B 3726 100% . ARIH1 1964 91% . ARIH2 1538 100% . ARL1 570 100% . ARL10 751 76% . ARL11 595 100% . ARL13A 1055 100% . ARL13B 1327 100% ARL13B‐Related Joubert Syndrome ARL13B 1327 100% Joubert Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:34

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARL14 583 100% . ARL15 5 0% . ARL16 614 100% . ARL17A 1348 17% . ARL17B 673 21% . ARL2 575 98% . ARL2BP 516 100% . ARL3 573 100% . ARL4A 607 100% . ARL4C 583 100% . ARL4D 610 100% . ARL5A 564 100% . ARL5B 564 100% . ARL5C 564 89% . ARL6 589 100% ARL6‐Related Bardet‐Biedl Syndrome ARL6 589 100% Bardet‐Biedl Syndrome ARL6IP1 636 100% . ARL6IP4 1734 61% . ARL6IP5 579 100% . ARL6IP6 697 100% . ARL8A 589 100% . ARL8B 831 97% . ARL9 531 100% . ARMC1 873 100% . ARMC10 1060 99% . ARMC12 1128 100% . ARMC2 2673 100% . ARMC3 2695 100% . ARMC4 3211 99% . ARMC5 3203 100% . ARMC6 1702 100% . ARMC7 609 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:35

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARMC8 2136 100% . ARMC9 2183 100% . ARMCX1 1366 100% . ARMCX2 1903 100% . ARMCX3 1144 100% . ARMCX4 7023 14% . ARMCX5 1681 100% . ARMCX5‐GPRASP2 2521 100% . ARMCX6 907 75% . ARMS2 2 0% Age‐Related Macular Degeneration ARMS2 2 0% Age‐Related Macular Degeneration 8 ARNT 2511 99% . ARNT2 2230 99% . ARNTL 2361 100% . ARNTL2 2012 97% . ARPC1A 1160 100% . ARPC1B 1174 82% . ARPC2 1007 100% . ARPC3 565 100% . ARPC4 589 100% . ARPC4‐TTLL3 2207 100% . ARPC5 481 100% . ARPC5L 478 69% . ARPM1 1127 100% . ARPP19 351 100% . ARPP21 2585 100% . ARR3 1245 95% . ARRB1 1324 96% . ARRB2 1389 97% . ARRDC1 1389 91% . ARRDC2 1519 83% . ARRDC3 1277 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:36

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ARRDC4 1289 76% . ARRDC5 1041 100% . ARSA 1562 92% A Deficiency ARSB 1667 97% Type VI ARSD 1822 95% . ARSE 1810 100% Chondrodysplasia Punctata 1, X‐Linked Recessive ARSF 1813 100% . ARSG 1622 100% . ARSH 1725 100% . ARSI 1718 100% . ARSJ 1808 100% . ARSK 1760 100% . ART1 1000 100% . ART3 1474 94% . ART4 977 100% . ART5 892 97% . ARTN 786 67% . ARV1 836 100% . ARVCF 2957 96% . ARX 1709 50% ARX‐Related Disorders ARX 1709 50% X‐Linked Infantile Spasm Syndrome ARX 1709 50% X‐Linked with Ambiguous Genitalia AS3MT 1172 100% . ASAH1 1399 100% Farber Lipogranulomatosis ASAH2 2423 40% . ASAH2B 589 35% . ASAP1 3507 100% . ASAP2 3133 100% . ASAP3 2835 95% . ASB1 1028 95% . ASB10 1911 89% . ASB11 1122 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:37

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ASB12 965 100% . ASB13 861 77% . ASB14 1942 100% . ASB15 1803 100% . ASB16 1471 82% . ASB17 900 100% . ASB18 1636 61% . ASB2 2006 87% . ASB3 1624 100% . ASB4 1373 100% . ASB5 1018 100% . ASB6 1290 100% . ASB7 977 100% . ASB8 879 100% . ASB9 942 100% . ASCC1 1377 91% . ASCC2 2350 100% . ASCC3 6872 100% . ASCL1 715 87% . ASCL2 586 12% . ASCL3 550 100% . ASCL4 526 98% . ASF1A 631 82% . ASF1B 625 100% . ASGR1 1294 100% . ASGR2 976 100% . ASH1L 9018 100% . ASH2L 1951 94% . ASIP 411 95% . ASL 1462 100% Argininosuccinate Deficiency ASMT 1207 92% . ASMTL 1932 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:38

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ASNA1 1075 100% . ASNS 1733 100% . ASNSD1 1944 100% . ASPA 966 100% Canavan Disease ASPDH 916 96% . ASPG 2079 82% . ASPH 3113 97% . ASPHD1 1185 100% . ASPHD2 1122 100% . ASPM 10597 100% Primary Autosomal Recessive ASPM 10597 100% Primary Autosomal Recessive Microcephaly Type 5 ASPN 1171 100% . ASPRV1 1036 100% . ASPSCR1 2012 90% . ASRGL1 951 99% . ASS1 1295 100% Type I ASTE1 2060 100% . ASTL 1332 100% . ASTN1 4005 100% . ASTN2 4187 93% . ASUN 2185 100% . ASXL1 4685 99% . ASXL2 4356 100% . ASXL3 6795 100% . ASZ1 1480 100% . ATAD1 1122 100% . ATAD2 4285 100% . ATAD2B 4489 99% . ATAD3A 1999 78% . ATAD3B 2315 82% . ATAD3C 1284 99% . ATAD5 5627 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:39

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ATAT1 1525 94% . ATCAY 1164 97% Cerebellar Ataxia, Cayman Type ATE1 1738 100% . ATF1 840 100% . ATF2 1571 100% . ATF3 622 100% . ATF4 1064 100% . ATF5 857 100% . ATF6 2077 100% . ATF6B 2264 97% . ATF7 1529 100% . ATF7IP 3869 100% . ATF7IP2 2089 100% . ATG10 796 100% . ATG12 588 100% . ATG13 1721 100% . ATG14 1519 100% . ATG16L1 1978 94% . ATG16L2 2088 78% . ATG2A 5987 95% . ATG2B 6405 100% . ATG3 1066 100% . ATG4A 1249 100% . ATG4B 1754 97% . ATG4C 1418 100% . ATG4D 1465 88% . ATG5 856 100% . ATG7 2186 100% . ATG9A 2578 100% . ATG9B 2389 86% . ATHL1 2506 98% . ATIC 2017 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:40

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ATL1 1715 100% Spastic Paraplegia 3A ATL2 1917 100% . ATL3 1754 100% . ATM 9420 100% Ataxia‐Telangiectasia ATMIN 2488 95% . ATN1 3609 95% DRPLA ATOH1 1069 100% . ATOH7 463 93% . ATOH8 978 94% . ATOX1 219 100% . ATP10A 4584 99% . ATP10B 4683 100% . ATP10D 4387 100% . ATP11A 3802 99% . ATP11B 3728 99% . ATP11C 3582 100% . ATP12A 3230 100% . ATP13A1 3719 95% . ATP13A2 4012 98% Kufor‐Rakeb Syndrome ATP13A3 3805 100% . ATP13A4 3772 100% . ATP13A5 3785 100% . ATP1A1 3167 99% . ATP1A2 3155 100% Familial Hemiplegic Migraine ATP1A2 3155 100% Familial Hemiplegic Migraine 2 ATP1A3 3808 95% Rapid‐Onset Dystonia‐Parkinsonism ATP1A4 3178 100% . ATP1B1 936 100% . ATP1B2 901 97% . ATP1B3 868 100% . ATP1B4 1106 100% . ATP2A1 3214 100% Brody Myopathy UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:41

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ATP2A2 3227 100% Darier‐White Disease ATP2A3 3295 88% . ATP2B1 3901 100% . ATP2B2 3820 100% . ATP2B3 3912 97% . ATP2B4 3888 100% . ATP2C1 3090 100% Benign Chronic ATP2C2 3210 96% . ATP4A 3196 100% . ATP4B 904 95% . ATP5A1 1710 100% . ATP5B 1630 100% . ATP5C1 941 100% . ATP5D 523 68% . ATP5E 164 100% . ATP5F1 799 100% . ATP5G1 503 100% . ATP5G2 617 100% . ATP5G3 445 100% . ATP5H 506 100% . ATP5I 226 74% . ATP5J 367 99% . ATP5J2 331 100% . ATP5J2‐PTCD1 2334 100% . ATP5L 324 100% . ATP5L2 307 100% . ATP5O 687 96% . ATP5S 718 100% . ATP5SL 838 95% . ATP6AP1 1570 90% . ATP6AP1L 691 100% . ATP6AP2 1185 89% X‐Linked Mental Retardation with UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:42

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ATP6V0A1 2619 100% . ATP6V0A2 2651 100% ATP6V0A2‐Related ATP6V0A4 2603 100% Renal Tubular Acidosis, Distal, Autosomal Recessive ATP6V0B 650 90% . ATP6V0C 480 100% . ATP6V0D1 1088 100% . ATP6V0D2 1085 100% . ATP6V0E1 258 100% . ATP6V0E2 887 77% . ATP6V1A 1910 100% . ATP6V1B1 1792 100% Distal Renal Tubular Acidosis with Progressive Sensorineural Deafness ATP6V1B2 1592 100% . ATP6V1C1 1197 100% . ATP6V1C2 1336 100% . ATP6V1D 780 100% . ATP6V1E1 717 100% . ATP6V1E2 685 100% . ATP6V1F 456 100% . ATP6V1G1 369 96% . ATP6V1G2 405 91% . ATP6V1G3 419 100% . ATP6V1H 1504 100% . ATP7A 4615 100% ATP7A‐Related Copper Transport Disorders ATP7A 4615 100% ATP7B 4482 100% Wilson Disease ATP8A1 3740 99% . ATP8A2 3732 95% . ATP8B1 4077 98% ATP8B1‐Related Intrahepatic Cholestasis ATP8B1 4077 98% Low Gamma‐GT Familial Intrahepatic Cholestasis ATP8B2 3914 100% . ATP8B3 4360 96% . ATP8B4 3687 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:43

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ATP9A 3256 98% . ATP9B 3564 98% . ATPAF1 1024 74% . ATPAF1‐AS1 2 0% . ATPAF2 902 100% Nuclear‐Encoded ATPase Deficiency, ATPAF2‐Related ATPBD4 1030 97% . ATPIF1 378 100% . ATR 8195 100% ATRIP 2428 100% . ATRN 4431 91% . ATRNL1 4338 99% . ATRX 7635 100% Alpha‐Thalassemia X‐Linked Syndrome ATXN1 2456 100% Spinocerebellar Ataxia Type 1 ATXN10 1558 93% Spinocerebellar Ataxia Type10 ATXN1L 2074 0% . ATXN2 4135 84% Spinocerebellar Ataxia Type 2 ATXN2L 3552 98% . ATXN3 1234 100% Spinocerebellar Ataxia Type 3 ATXN3L 1072 100% . ATXN7 2887 97% Spinocerebellar Ataxia Type 7 ATXN7L1 2877 98% . ATXN7L2 2213 99% . ATXN7L3 1113 100% . ATXN7L3B 1 0% . AUH 1060 84% 3‐Methylglutaconic Aciduria Type 1 AUP1 1640 93% . AURKA 1259 100% . AURKAIP1 612 90% . AURKB 1067 100% . AURKC 963 95% Male Infertility with Large‐Headed, Multiflagellar, Polyploid Spermatozoa AUTS2 4044 98% . AVEN 1113 76% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:44

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

AVIL 2536 100% . AVL9 2150 96% . AVP 507 53% Neurohypophyseal Diabetes Insipidus AVPI1 616 100% . AVPR1A 1265 100% . AVPR1B 1283 100% . AVPR2 1338 94% Nephrogenic Diabetes Insipidus AVPR2 1338 94% Nephrogenic Diabetes Insipidus, X‐Linked AWAT1 1015 100% . AWAT2 1202 98% . AXDND1 3188 100% . AXIN1 2687 95% . AXIN2 2572 99% Oligodontia‐ Syndrome AXL 2765 99% . AZGP1 993 100% . AZI1 3352 96% . AZI2 1296 100% . AZIN1 1387 100% . AZU1 821 93% . B2M 395 100% . B3GALNT1 1034 100% . B3GALNT2 1568 93% . B3GALT1 985 100% . B3GALT2 1273 100% . B3GALT4 1145 100% . B3GALT5 937 100% . B3GALT6 994 54% . B3GALTL 1557 95% Peters Plus Syndrome B3GAT1 1021 99% . B3GAT2 988 95% . B3GAT3 1028 100% . B3GNT1 1256 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:45

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

B3GNT2 1198 100% . B3GNT3 1127 100% . B3GNT4 1145 100% . B3GNT5 1141 100% . B3GNT6 1162 93% . B3GNT7 1214 99% . B3GNT8 1198 100% . B3GNT9 1213 88% . B3GNTL1 1134 93% . B4GALNT1 1917 88% . B4GALNT2 1763 98% . B4GALNT3 3080 95% . B4GALNT4 3200 71% . B4GALT1 1221 99% B4GALT1‐CDG (CDG‐IId) B4GALT1 1221 99% Congenital Disorders of Glycosylation B4GALT2 1234 97% . B4GALT3 1206 100% . B4GALT4 1063 100% . B4GALT5 1203 100% . B4GALT6 1185 100% . B4GALT7 1027 95% . B7H6 1385 95% . B9D1 1094 92% . B9D2 540 100% . BAALC 450 84% . BAAT 1269 100% BAAT‐Related Familial Hypercholanemia BABAM1 1179 100% . BACE1 1596 93% . BACE2 1593 88% . BACH1 2227 100% . BACH2 2542 100% . BAD 593 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:46

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BAG1 1085 94% . BAG2 648 100% . BAG3 1744 100% BAG3‐Related Myofibrillar Myopathy BAG3 1744 100% Myofibrillar Myopathy BAG4 1394 96% . BAG5 1475 100% . BAG6 3690 94% . BAGE 2 0% . BAGE2 4 0% . BAGE3 4 0% . BAGE4 2 0% . BAGE5 2 0% . BAHCC1 7757 90% . BAHD1 2367 100% . BAI1 4875 80% . BAI2 4882 90% . BAI3 4689 100% . BAIAP2 2090 92% . BAIAP2L1 1592 97% . BAIAP2L2 1646 79% . BAIAP3 3865 94% . BAK1 747 90% . BAMBI 795 93% . BANF1 278 100% . BANF2 282 100% . BANK1 2422 97% . BANP 1663 100% . BAP1 2327 98% . BARD1 2378 100% . BARHL1 996 100% . BARHL2 1176 99% . BARX1 781 63% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:47

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BARX2 856 100% . BASP1 688 81% . BATF 390 100% . BATF2 837 98% . BATF3 396 77% . BAX 786 97% . BAZ1A 4775 100% . BAZ1B 4528 98% . BAZ2A 5834 100% . BAZ2B 6752 100% . BBC3 802 56% . BBIP1 6 0% . BBOX1 1192 100% . BBS1 1883 99% Bardet‐Biedl Syndrome BBS1 1883 99% BBS1‐Related Bardet‐Biedl Syndrome BBS10 2180 100% Bardet‐Biedl Syndrome BBS10 2180 100% BBS10‐Related Bardet‐Biedl Syndrome BBS12 2137 100% Bardet‐Biedl Syndrome BBS12 2137 100% BBS12‐Related Bardet‐Biedl Syndrome BBS2 2234 100% Bardet‐Biedl Syndrome BBS2 2234 100% BBS2‐Related Bardet‐Biedl Syndrome BBS4 1624 99% Bardet‐Biedl Syndrome BBS4 1624 99% BBS4‐Related Bardet‐Biedl Syndrome BBS5 1074 100% Bardet‐Biedl Syndrome BBS5 1074 100% BBS5‐Related Bardet‐Biedl Syndrome BBS7 2229 100% Bardet‐Biedl Syndrome BBS7 2229 100% BBS7‐Related Bardet‐Biedl Syndrome BBS9 2816 100% Bardet‐Biedl Syndrome BBS9 2816 100% BBS9‐Related Bardet‐Biedl Syndrome BBX 2957 100% . BCAM 1951 94% . BCAN 2862 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:48

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BCAP29 1079 100% . BCAP31 974 83% . BCAR1 2993 90% . BCAR3 2522 100% . BCAS1 1862 100% . BCAS2 706 100% . BCAS3 2885 100% . BCAS4 733 61% . BCAT1 1207 100% Hyperleucine‐Isoleucinemia BCAT2 1223 100% Hyperleucine‐Isoleucinemia BCCIP 1205 100% . BCDIN3D 887 100% . BCHE 1821 100% Deficiency BCKDHA 1449 99% Maple Syrup Urine Disease BCKDHA 1449 99% Maple Syrup Urine Disease Type 1A BCKDHB 1219 96% Maple Syrup Urine Disease BCKDHB 1219 96% Maple Syrup Urine Disease Type 1B BCKDK 1287 100% . BCL10 714 100% . BCL11A 2651 100% . BCL11B 2701 97% . BCL2 761 100% . BCL2A1 596 100% . BCL2L1 710 100% . BCL2L10 623 88% . BCL2L11 1055 88% . BCL2L12 1033 97% . BCL2L13 1488 100% . BCL2L14 1096 100% . BCL2L15 534 100% . BCL2L2 590 100% . BCL2L2‐PABPN1 1040 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:49

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BCL3 1461 79% . BCL6 2253 100% . BCL6B 1472 100% . BCL7A 720 97% . BCL7B 633 96% . BCL7C 678 100% . BCL9 4309 100% . BCL9L 4532 97% . BCLAF1 2807 100% . BCMO1 1688 100% . BCO2 1848 100% . BCOR 5328 100% BCOR‐Related Lenz Microphthalmia Syndrome BCOR 5328 100% Lenz Microphthalmia Syndrome BCOR 5328 100% Syndromic Microphthalmia 2 BCORL1 5184 99% . BCR 3909 96% . BCS1L 1288 100% Gracile Syndrome BCS1L 1288 100% (nuclear DNA ) BCS1L 1288 100% Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L‐Related BDH1 1167 100% . BDH2 900 100% . BDKRB1 1066 100% . BDKRB2 1184 100% . BDNF 1034 100% . BDP1 8112 100% . BEAN1 770 95% . BECN1 1397 100% . BEGAIN 1809 95% . BEND2 2482 94% . BEND3 2499 100% . BEND4 1723 75% . BEND5 1290 90% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:50

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BEND6 860 100% . BEND7 1505 100% . BEST1 2257 86% Best Vitelliform Macular Dystrophy BEST1 2257 86% BEST1‐Related Retinitis Pigmentosa BEST1 2257 86% Vitreoretinochoroidopathy BEST2 1566 82% . BEST3 2043 100% . BEST4 1458 62% . BET1 469 100% . BET1L 489 96% . BET3L 566 100% . BEX1 382 100% . BEX2 394 99% . BEX4 367 100% . BEX5 340 100% . BFAR 1381 100% . BFSP1 2036 79% . BFSP2 1276 100% . BGLAP 319 97% . BGN 1186 100% . BHLHA15 574 85% . BHLHA9 712 1% . BHLHB9 1648 100% . BHLHE22 1150 81% . BHLHE23 682 51% . BHLHE40 1524 99% . BHLHE41 1469 62% . BHMT 1253 100% . BHMT2 1124 97% . BICC1 3119 100% . BICD1 3052 100% . BICD2 2606 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:51

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BID 750 100% . BIK 499 81% . BIN1 1907 84% Myotubular Myopathy, Recessive BIN2 1750 100% . BIN3 798 98% . BIRC2 1889 100% . BIRC3 1847 100% . BIRC5 621 100% . BIRC6 14870 100% . BIRC7 1109 100% . BIRC8 715 100% . BIVM 1569 100% . BIVM‐ERCC5 5147 100% . BLCAP 268 100% . BLID 331 100% . BLK 1566 100% . BLM 4338 100% Bloom's Syndrome BLMH 1416 99% . BLNK 1482 100% . BLOC1S1 394 100% . BLOC1S2 449 100% . BLOC1S3 613 58% Hermansky‐Pudlak Syndrome BLOC1S3 613 58% Hermansky‐Pudlak Syndrome 8 BLVRA 1046 100% . BLVRB 641 99% . BLZF1 1284 100% . BMF 567 100% . BMI1 1017 100% . BMP1 3131 100% . BMP10 1283 100% . BMP15 1187 99% Ovarian Dysgenesis 2 BMP2 1199 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:52

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BMP2K 3588 96% . BMP3 1431 100% . BMP4 1235 100% Cleft Lip +/‐ Cleft Palate BMP5 1393 100% . BMP6 1570 88% . BMP7 1417 88% . BMP8A 1237 75% . BMP8B 1264 71% . BMPER 2119 100% . BMPR1A 1643 100% BMPR1A‐Related Juvenile Polyposis BMPR1A 1643 100% Juvenile Polyposis Syndrome BMPR1B 1571 100% Type A2 BMPR2 3169 100% Heritable Pulmonary Arterial Hypertension BMS1 3937 100% . BMX 2100 100% . BNC1 3005 97% . BNC2 3328 100% . BNIP1 844 100% . BNIP2 1348 85% . BNIP3 609 95% . BNIP3L 684 100% . BNIPL 1114 100% . BOC 3518 99% . BOD1 602 93% . BOD1L 9260 99% . BOK 655 80% . BOLA1 418 100% . BOLA2 942 0% . BOLA2B 942 0% . BOLA3 411 86% . BOLL 1020 100% . BOP1 2305 10% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:53

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BORA 1739 100% . BPGM 788 100% . BPHL 904 98% . BPI 1571 100% . BPIFA1 799 100% . BPIFA2 778 100% . BPIFA3 793 100% . BPIFB1 1515 100% . BPIFB2 1437 100% . BPIFB3 1491 100% . BPIFB4 1909 100% . BPIFB6 1422 100% . BPIFC 1588 100% . BPNT1 959 100% . BPTF 9265 96% . BPY2 1011 2% . BPY2B 1011 2% . BPY2C 1011 2% . BRAF 2373 94% BRAF‐Related Cardiofaciocutaneous Syndrome BRAF 2373 94% BRAF‐Related Syndrome BRAF 2373 94% Cardiofaciocutaneous Syndrome BRAF 2373 94% LEOPARD Syndrome BRAP 1827 100% . BRAT1 3710 97% . BRCA1 5750 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer BRCA1 5750 100% BRCA1 Hereditary Breast and Ovarian Cancer BRCA2 10361 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer BRCA2 10361 100% BRCA2 Hereditary Breast and Ovarian Cancer BRCA2 10361 100% BRCA2‐Related Fanconi Anemia BRCA2 10361 100% Fanconi Anemia BRCA2 10361 100% Susceptibility 2 BRCA2 10361 100% Cancer UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:54

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BRCC3 1067 100% . BRD1 3618 100% . BRD2 2637 93% . BRD3 2225 98% . BRD4 4180 94% . BRD7 2027 100% . BRD8 4191 100% . BRD9 2099 92% . BRDT 2952 100% . BRE 1440 100% . BRF1 2497 93% . BRF2 1276 100% . BRI3 391 62% . BRI3BP 768 93% . BRIP1 3906 100% BRIP1‐Related Fanconi Anemia BRIP1 3906 100% Fanconi Anemia BRIX1 1102 94% . BRK1 3 0% . BRMS1 921 100% . BRMS1L 1012 100% . BROX 1284 100% . BRP44 404 80% . BRP44L 342 100% . BRPF1 3715 100% . BRPF3 3681 97% . BRS3 1212 100% . BRSK1 2413 92% . BRSK2 2087 93% . BRWD1 7384 99% . BRWD3 5573 100% X‐Linked Mental Retardation 93 BSCL2 1482 100% Berardinelli‐Seip Congenital Lipodystrophy BSCL2 1482 100% Berardinelli‐Seip Congenital Lipodystrophy Type 2 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:55

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BSCL2 1482 100% BSCL2‐Related Neurologic Disorders/Seipinopathy BSDC1 1504 100% . BSG 1226 92% . BSN 11821 98% . BSND 979 100% Bartter Syndrome Type 4A BSPH1 419 100% . BSPRY 1233 84% . BST1 996 93% . BST2 559 100% . BSX 714 97% . BTAF1 5702 100% . BTBD1 1481 97% . BTBD10 1460 100% . BTBD11 3488 82% . BTBD16 1584 100% . BTBD17 1661 79% . BTBD18 2147 0% . BTBD19 908 78% . BTBD2 1614 85% . BTBD3 1585 100% . BTBD6 1474 86% . BTBD7 3547 100% . BTBD8 1258 100% . BTBD9 1978 95% . BTC 557 88% . BTD 1648 100% Deficiency BTF3 645 82% . BTF3L4 497 100% . BTG1 524 100% . BTG2 485 92% . BTG3 911 100% . BTG4 803 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:56

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

BTK 2052 100% X‐Linked Agammaglobulinemia BTLA 890 100% . BTN1A1 1609 100% . BTN2A1 1722 99% . BTN2A2 1728 98% . BTN3A1 1746 90% . BTN3A2 1034 100% . BTN3A3 1791 100% . BTNL2 1434 97% . BTNL3 1541 86% . BTNL8 1691 87% . BTNL9 1720 90% . BTRC 1891 98% . BUB1 3358 100% . BUB1B 3302 100% . BUB3 1040 100% . BUD13 1900 99% . BUD31 451 100% . BVES 1111 100% . BYSL 1342 100% . BZRAP1 5698 94% . BZW1 1416 93% . BZW2 1304 100% . C10orf10 643 100% . C10orf105 411 33% . C10orf107 751 100% . C10orf11 621 100% . C10orf111 472 100% . C10orf113 446 100% . C10orf114 419 94% . C10orf116 243 79% . C10orf118 2761 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:57

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C10orf12 3748 100% . C10orf120 1020 100% . C10orf122 577 100% . C10orf125 500 62% . C10orf128 396 100% . C10orf129 1483 100% . C10orf131 546 100% . C10orf137 4140 98% . C10orf140 2731 86% . C10orf2 2090 100% C10orf2‐Related Ataxia Neuropathy Spectrum Disorders C10orf2 2090 100% C10orf2‐Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form C10orf2 2090 100% Infantile‐Onset Spinocerebellar Ataxia C10orf2 2090 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form C10orf2 2090 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 C10orf25 377 100% . C10orf26 1139 94% . C10orf27 1196 100% . C10orf28 2361 100% . C10orf32 341 100% . C10orf35 409 100% . C10orf46 1146 100% . C10orf47 1320 63% . C10orf53 620 84% . C10orf54 987 100% . C10orf55 542 100% . C10orf58 711 100% . C10orf62 676 100% . C10orf67 578 100% . C10orf68 1970 100% . C10orf71 4402 100% . C10orf76 2353 100% . C10orf81 1704 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:58

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C10orf82 579 100% . C10orf88 1362 94% . C10orf90 2136 100% . C10orf91 450 96% . C10orf95 782 39% . C10orf96 813 100% . C10orf99 258 100% . C11orf1 469 100% . C11orf10 252 100% . C11orf16 1424 100% . C11orf2 2389 97% . C11orf20 623 84% . C11orf21 553 74% . C11orf24 1358 100% . C11orf30 4052 100% . C11orf31 381 77% . C11orf34 640 72% . C11orf35 1961 84% . C11orf40 670 93% . C11orf41 5648 100% . C11orf42 1014 100% . C11orf45 450 100% . C11orf46 795 100% . C11orf48 1008 100% . C11orf49 1218 100% . C11orf51 382 100% . C11orf52 388 100% . C11orf53 723 100% . C11orf54 826 100% . C11orf57 902 100% . C11orf58 572 100% . C11orf61 1696 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:59

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C11orf63 2433 100% . C11orf65 974 100% . C11orf67 381 100% . C11orf68 890 86% . C11orf70 836 86% . C11orf71 452 100% . C11orf73 660 95% . C11orf74 686 100% . C11orf75 184 100% . C11orf80 2105 92% . C11orf82 3013 100% . C11orf83 290 98% . C11orf84 1170 100% . C11orf85 683 100% . C11orf86 442 13% . C11orf87 598 100% . C11orf88 619 86% . C11orf9 3713 88% . C11orf91 590 87% . C11orf93 473 100% . C11orf94 309 86% . C11orf95 2057 10% . C11orf96 1012 25% . C12orf10 1159 100% . C12orf12 1225 100% . C12orf23 359 100% . C12orf24 850 83% . C12orf26 1860 100% . C12orf29 1145 100% . C12orf32 3 0% . C12orf34 1367 96% . C12orf35 5256 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:60

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C12orf39 375 94% . C12orf4 1711 100% . C12orf40 2034 100% . C12orf42 1111 100% . C12orf43 816 97% . C12orf44 665 100% . C12orf45 574 100% . C12orf49 638 100% . C12orf5 837 100% . C12orf50 1293 100% . C12orf51 12406 98% . C12orf52 818 100% . C12orf53 869 99% . C12orf54 412 100% . C12orf56 1935 74% . C12orf57 393 100% . C12orf59 524 100% . C12orf60 742 100% . C12orf61 400 57% . C12orf62 178 100% . C12orf65 587 100% . C12orf66 1350 100% . C12orf68 589 99% . C12orf69 682 100% . C12orf70 1064 84% . C12orf71 889 100% . C12orf73 224 100% . C12orf74 581 100% . C12orf75 5 0% . C12orf76 424 58% . C12orf77 454 98% . C13orf15 434 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:61

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C13orf16 476 100% . C13orf26 898 100% . C13orf27 704 100% . C13orf30 432 100% . C13orf33 932 98% . C13orf35 374 100% . C14orf1 439 100% . C14orf101 2188 94% . C14orf102 3551 100% . C14orf105 915 100% . C14orf109 518 100% . C14orf118 1601 100% . C14orf119 427 100% . C14orf126 519 94% . C14orf129 428 100% . C14orf132 2 0% . C14orf133 1558 100% . C14orf135 2866 100% . C14orf142 311 100% . C14orf149 1085 98% . C14orf159 1914 100% . C14orf166 767 100% . C14orf166B 1860 96% . C14orf169 1 0% . C14orf176 678 0% . C14orf177 386 100% . C14orf178 392 91% . C14orf180 499 40% . C14orf182 336 100% . C14orf183 995 92% . C14orf2 244 77% . C14orf21 1951 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:62

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C14orf28 949 100% . C14orf37 2407 100% . C14orf38 2405 96% . C14orf39 1832 100% . C14orf43 3182 100% . C14orf45 1638 100% . C14orf49 2996 97% . C14orf79 998 100% . C14orf80 1347 71% . C14orf93 1641 100% . C15orf17 617 85% . C15orf2 3475 100% . C15orf23 1030 100% . C15orf24 749 100% . C15orf26 976 99% . C15orf27 1636 97% . C15orf29 951 100% . C15orf32 549 100% . C15orf33 1587 100% . C15orf38 705 86% . C15orf38‐AP3S2 1225 92% . C15orf39 3152 100% . C15orf40 666 100% . C15orf41 890 98% . C15orf42 5821 99% . C15orf43 691 100% . C15orf44 1647 100% . C15orf48 268 100% . C15orf52 1912 99% . C15orf53 548 100% . C15orf54 556 100% . C15orf55 3427 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:63

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C15orf56 494 65% . C15orf57 601 100% . C15orf58 1162 100% . C15orf59 890 100% . C15orf60 825 100% . C15orf61 482 92% . C15orf62 532 100% . C15orf63 417 100% . C16orf11 1724 94% . C16orf13 710 57% . C16orf3 358 81% . C16orf42 963 80% . C16orf45 698 92% . C16orf46 1224 100% . C16orf48 1168 89% . C16orf5 803 99% . C16orf52 3 0% . C16orf53 777 94% . C16orf54 679 75% . C16orf55 509 92% . C16orf57 942 84% . C16orf58 1742 95% . C16orf59 1342 85% . C16orf61 252 100% . C16orf62 3350 98% . C16orf7 2146 77% . C16orf70 1333 95% . C16orf71 1595 99% . C16orf72 844 80% . C16orf73 1469 100% . C16orf74 243 96% . C16orf78 818 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:64

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C16orf79 711 99% . C16orf80 606 100% . C16orf82 658 97% . C16orf86 1461 95% . C16orf87 481 100% . C16orf88 1393 100% . C16orf89 1492 86% . C16orf90 620 100% . C16orf91 1169 100% . C16orf92 415 100% . C16orf93 1125 79% . C16orf95 496 99% . C16orf96 3211 25% . C17orf100 499 92% . C17orf101 1173 93% . C17orf102 512 100% . C17orf103 3 0% . C17orf104 2912 98% . C17orf105 515 0% . C17orf107 585 57% . C17orf108 309 100% . C17orf109 311 100% . C17orf110 1 0% . C17orf28 2443 94% . C17orf39 927 77% . C17orf46 1175 100% . C17orf47 1721 100% . C17orf48 1041 100% . C17orf49 603 96% . C17orf50 537 32% . C17orf51 674 100% . C17orf53 1984 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:65

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C17orf56 1626 84% . C17orf57 3010 100% . C17orf58 427 100% . C17orf59 1078 95% . C17orf61 358 99% . C17orf62 1031 94% . C17orf63 1697 100% . C17orf64 735 95% . C17orf65 586 54% . C17orf66 1866 100% . C17orf67 357 100% . C17orf70 2665 93% . C17orf72 808 12% . C17orf74 1518 100% . C17orf75 1231 100% . C17orf77 736 100% . C17orf78 856 100% . C17orf79 571 82% . C17orf80 1873 100% . C17orf81 1088 100% . C17orf82 760 92% . C17orf85 1915 99% . C17orf89 237 14% . C17orf90 452 92% . C17orf96 1144 29% . C17orf97 1280 76% . C17orf98 477 100% . C17orf99 1120 74% . C18orf1 1022 99% . C18orf21 758 100% . C18orf25 1228 100% . C18orf26 645 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:66

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C18orf32 239 100% . C18orf34 2688 100% . C18orf42 212 0% . C18orf54 1630 100% . C18orf56 509 58% . C18orf62 318 100% . C18orf63 2106 100% . C18orf8 2054 100% . C19orf10 546 88% . C19orf12 471 94% . C19orf18 672 100% . C19orf21 2056 100% . C19orf24 411 31% . 702 87% . C19orf26 1461 92% . C19orf29 2531 94% . C19orf33 337 99% . C19orf35 1434 73% . C19orf38 721 96% . C19orf40 664 100% . C19orf42 248 100% . C19orf43 543 40% . C19orf44 2002 100% . C19orf45 1769 84% . C19orf46 1284 98% . C19orf47 1305 94% . C19orf48 358 100% . C19orf51 1878 79% . C19orf52 791 53% . C19orf53 312 100% . C19orf54 1086 94% . C19orf55 1584 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:67

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C19orf57 1942 100% . C19orf59 592 100% . C19orf6 1907 65% . C19orf60 850 63% . C19orf63 908 87% . C19orf66 908 97% . C19orf69 468 100% . C19orf70 373 73% . C19orf71 646 48% . C19orf73 394 100% . C19orf75 614 100% . C19orf76 470 37% . C19orf77 409 83% . C19orf79 242 52% . C19orf80 635 97% . C19orf81 617 62% . C1D 451 100% . C1GALT1 1146 100% . C1GALT1C1 961 100% . C1orf100 460 100% . C1orf101 3002 96% . C1orf105 580 100% . C1orf106 2032 82% . C1orf109 628 100% . C1orf110 921 100% . C1orf111 798 100% . C1orf112 2673 100% . C1orf114 1550 100% . C1orf115 437 49% . C1orf116 1818 100% . C1orf122 492 62% . C1orf123 515 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:68

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C1orf124 1525 100% . 2092 99% . C1orf129 1926 100% . C1orf130 321 100% . C1orf131 917 100% . C1orf135 1086 96% . C1orf141 1227 100% . C1orf144 603 91% . C1orf146 563 100% . C1orf150 586 100% . C1orf151‐NBL1 578 93% . C1orf158 601 100% . C1orf159 1353 80% . C1orf162 488 100% . C1orf168 2271 100% . C1orf172 1209 100% . C1orf173 4649 100% . C1orf174 748 100% . C1orf177 1362 97% . C1orf182 390 100% . C1orf185 620 100% . C1orf186 539 100% . C1orf187 1074 100% . C1orf189 322 100% . C1orf190 728 100% . C1orf192 554 100% . C1orf194 501 100% . C1orf198 1000 98% . C1orf201 1464 88% . C1orf204 732 68% . C1orf21 386 100% . C1orf210 2 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:69

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C1orf212 1 0% . C1orf216 694 100% . C1orf226 960 87% . C1orf227 305 100% . C1orf228 1367 88% . C1orf229 718 12% . C1orf27 1417 100% . C1orf31 393 100% . C1orf35 824 88% . C1orf38 1956 95% . C1orf43 794 100% . C1orf49 1032 96% . C1orf50 620 90% . C1orf51 1178 100% . C1orf52 561 100% . C1orf53 450 96% . C1orf54 416 100% . C1orf55 1384 100% . C1orf56 1034 100% . C1orf61 519 100% . C1orf63 946 100% . C1orf64 518 100% . C1orf65 1876 98% . C1orf68 757 100% . 814 100% . C1orf85 1245 97% . C1orf86 992 93% . C1orf87 1685 100% . C1orf88 664 100% . C1orf9 4120 98% . C1orf94 1825 80% . C1orf95 430 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:70

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C1orf96 825 89% . C1QA 852 100% . C1QB 770 100% . C1QBP 873 73% . C1QC 746 100% . C1QL1 785 99% . C1QL2 872 82% . C1QL3 776 97% . C1QL4 725 86% . C1QTNF1 875 100% . C1QTNF2 1005 100% . C1QTNF3 984 100% . C1QTNF4 994 74% . C1QTNF5 740 66% Late‐Onset Degeneration C1QTNF6 919 99% . C1QTNF7 903 98% . C1QTNF8 767 95% . C1QTNF9 1036 99% . C1QTNF9B 1014 100% . C1QTNF9B‐AS1 777 100% . C1R 1915 96% . C1RL 1488 100% . C1S 2186 100% . C2 4039 97% . C20orf11 703 100% . C20orf111 891 100% . C20orf112 1372 99% . C20orf118 672 100% . C20orf123 1713 65% . C20orf132 3342 89% . C20orf141 506 100% . C20orf144 470 57% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:71

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C20orf151 2047 83% . C20orf152 1779 100% . C20orf160 1370 65% . C20orf166 424 100% . C20orf173 775 100% . C20orf177 1156 100% . C20orf194 3744 96% . C20orf195 961 100% . C20orf196 630 100% . C20orf197 389 100% . C20orf20 635 76% . C20orf201 731 30% . C20orf202 377 100% . C20orf203 2 0% . C20orf24 606 81% . C20orf26 4028 100% . C20orf27 1113 100% . C20orf29 611 100% . C20orf3 1287 96% . C20orf30 572 68% . C20orf4 1167 100% . C20orf43 957 99% . C20orf54 1477 97% Brown‐Vialetto‐Van Laere Syndrome C20orf7 1102 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear ) C20orf72 1128 100% . C20orf79 475 100% . C20orf85 430 100% . C20orf94 1255 100% . C20orf96 1329 96% . C21orf2 1159 88% . C21orf33 917 96% Anophthalmia/Microphthalmia C21orf56 1039 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:72

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C21orf58 1170 60% . C21orf59 1021 99% . 664 100% . C21orf63 1399 97% . C21orf7 757 76% . C21orf91 910 100% . C22orf13 936 88% . C22orf15 718 99% . 678 100% . C22orf24 491 100% . C22orf25 1150 98% . C22orf26 425 38% . C22orf28 1566 100% . C22orf29 1099 100% . C22orf31 885 100% . C22orf32 332 100% . C22orf33 863 100% . C22orf39 496 84% . C22orf40 666 99% . C22orf42 792 90% . C22orf43 740 100% . C22orf46 740 10% . C2CD2 2219 91% . C2CD2L 2180 98% . C2CD3 6016 100% . C2CD4A 1114 45% . C2CD4B 1099 29% . C2CD4C 1270 29% . C2CD4D 1066 0% . C2orf15 386 100% . C2orf16 5959 100% . C2orf18 1140 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:73

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C2orf27A 620 5% . C2orf27B 638 8% . C2orf28 883 78% . C2orf29 1570 93% . C2orf40 463 83% . C2orf42 1757 100% . C2orf43 1020 100% . C2orf44 2178 100% . C2orf47 896 100% . C2orf48 492 98% . C2orf49 829 99% . C2orf50 501 100% . C2orf51 555 100% . C2orf53 1243 100% . C2orf54 1435 99% . C2orf55 2935 80% . C2orf56 1366 100% . C2orf57 1192 100% . C2orf61 790 100% . C2orf62 1204 100% . C2orf63 1805 100% . C2orf65 1633 99% . C2orf66 362 100% . C2orf67 3154 100% . C2orf68 745 100% . C2orf69 1166 79% . C2orf70 622 93% . C2orf71 3875 100% C2orf71‐Related Retinitis Pigmentosa C2orf71 3875 100% Retinitis Pigmentosa, Autosomal Recessive C2orf72 900 29% . 884 100% . C2orf74 607 80% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:74

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C2orf76 413 100% . C2orf77 1695 100% . C2orf78 2781 99% . C2orf80 682 100% . C2orf81 1783 72% . C2orf82 378 22% . C2orf83 564 86% . C2orf84 641 100% . C2orf88 292 100% . C2orf89 1395 99% . C3 5156 100% Age‐Related Macular Degeneration C3 5156 100% Age‐Related Macular Degeneration 9 C3 5156 100% Atypical Hemolytic‐Uremic Syndrome C3 5156 100% C3 Deficiency, Autosomal Recessive C3 5156 100% C3‐Related Atypical Hemolytic‐Uremic Syndrome C3AR1 1453 100% . C3orf14 403 100% . C3orf15 2451 100% . C3orf17 1744 100% . C3orf18 583 94% . C3orf19 1453 100% . C3orf20 2775 100% . C3orf22 438 100% . C3orf23 1583 100% . C3orf24 1 0% . C3orf25 1876 100% . C3orf26 898 98% . C3orf27 454 100% . C3orf30 1623 100% . C3orf32 1131 93% . C3orf33 787 100% . C3orf35 711 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:75

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C3orf36 502 100% . C3orf37 1089 100% . C3orf38 1002 100% . C3orf39 1747 100% . C3orf43 713 100% . C3orf45 511 100% . C3orf52 1030 80% . C3orf55 566 64% . C3orf58 1339 95% . C3orf62 816 100% . C3orf64 1380 100% . C3orf67 1953 100% . C3orf70 761 98% . C3orf71 877 87% . C3orf72 548 84% . C3orf75 949 100% . C3orf77 5159 99% . C3orf78 255 100% . C3orf79 315 100% . C3orf80 541 95% . C4A 11092 18% . C4B 11085 18% . C4BPA 1838 100% . C4BPB 783 100% . C4orf17 1117 100% . C4orf19 953 100% . C4orf21 6485 100% . C4orf22 785 100% . C4orf26 543 91% . C4orf27 1073 98% . C4orf29 1287 100% . C4orf3 612 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:76

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C4orf32 407 63% . C4orf33 624 100% . C4orf34 325 100% . C4orf36 366 100% . C4orf37 1424 100% . C4orf39 478 93% . C4orf40 676 100% . C4orf43 644 100% . C4orf44 849 63% . C4orf45 581 100% . C4orf46 350 100% . C4orf47 958 53% . C4orf48 436 17% . C4orf49 821 100% . C4orf51 633 100% . C4orf52 216 100% . C4orf6 311 100% . C5 5195 100% . C5AR1 1061 100% . C5orf15 810 100% . C5orf20 739 100% . C5orf22 1365 100% . C5orf24 571 100% . C5orf25 1503 91% . C5orf28 656 100% . C5orf30 625 100% . C5orf32 302 100% . C5orf34 1965 100% . C5orf35 925 100% . C5orf38 772 83% . C5orf39 586 100% . C5orf4 1312 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:77

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C5orf41 1990 100% . C5orf42 9902 100% . C5orf43 229 100% . C5orf44 1398 99% . C5orf45 1106 89% . C5orf46 280 100% . C5orf47 547 60% . C5orf48 417 100% . C5orf49 456 81% . C5orf51 909 100% . C5orf52 492 100% . C5orf54 1789 99% . C5orf55 364 100% . C5orf58 321 100% . C5orf60 1229 71% . C5orf62 1 0% . C5orf63 4 0% . C5orf64 405 90% . C5orf65 1369 0% . C6 2873 100% . C6orf1 492 98% . C6orf10 1718 94% . C6orf103 5176 94% . C6orf105 780 92% . C6orf106 917 100% . C6orf108 822 54% . C6orf115 397 100% . C6orf118 1446 99% . C6orf120 603 100% . C6orf125 397 100% . C6orf126 395 78% . C6orf127 378 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:78

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C6orf130 562 100% . C6orf132 3587 17% . C6orf136 1463 72% . C6orf138 2586 100% . C6orf141 1 0% . C6orf146 1585 100% . C6orf15 996 95% . C6orf162 302 100% . C6orf163 1010 100% . C6orf165 1917 100% . C6orf168 1254 100% . C6orf170 3902 100% . C6orf174 2868 94% . C6orf186 1121 73% . C6orf191 407 100% . C6orf192 1427 97% . C6orf195 388 100% . C6orf201 439 100% . C6orf203 736 100% . C6orf211 1346 100% . C6orf221 666 100% . C6orf222 2003 100% . C6orf223 788 94% . C6orf225 251 100% . C6orf226 310 100% . C6orf228 2 0% . C6orf25 865 94% . C6orf47 895 99% . C6orf48 337 98% . C6orf52 475 100% . C6orf57 339 85% . C6orf58 1017 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:79

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C6orf62 710 100% . C6orf7 4 0% . C6orf70 2109 100% . C6orf72 1025 92% . C6orf89 1228 100% . C6orf94 697 95% . C6orf97 2213 97% . C6orf99 401 100% . C7 2604 100% . C7orf10 1476 99% . C7orf11 548 65% . C7orf23 499 100% . C7orf25 1448 89% . C7orf26 1374 99% . C7orf29 715 100% . C7orf30 721 99% . C7orf31 1809 100% . C7orf33 546 100% . C7orf34 452 100% . C7orf41 408 100% . C7orf42 969 100% . C7orf43 2038 80% . C7orf44 628 100% . C7orf45 747 100% . C7orf46 925 93% . C7orf49 527 100% . 601 99% . C7orf53 408 100% . C7orf55 350 100% . C7orf57 936 100% . C7orf58 3215 100% . C7orf59 528 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:80

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C7orf60 1238 100% . C7orf61 1066 86% . C7orf62 766 100% . C7orf63 2922 100% . C7orf65 468 100% . C7orf66 356 100% . C7orf69 381 71% . C7orf70 784 100% . C7orf71 522 95% . C7orf72 1353 100% . C7orf73 156 0% . C8A 1799 100% . C8B 1824 100% . C8G 637 99% . C8orf22 262 100% . C8orf31 415 100% . C8orf33 749 100% . C8orf34 1473 100% . C8orf37 648 100% . C8orf38 1052 87% . C8orf4 325 100% . C8orf40 336 100% . C8orf42 673 79% . C8orf44 488 100% . C8orf44‐SGK3 1555 100% . C8orf45 2162 100% . C8orf46 648 95% . C8orf47 1137 95% . C8orf48 964 100% . C8orf55 635 30% . C8orf58 1233 96% . C8orf59 309 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:81

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C8orf73 2216 70% . C8orf74 901 100% . C8orf76 1195 100% . C8orf80 2535 100% . C8orf82 663 26% . C8orf83 273 100% . C8orf84 815 100% . C8orf85 476 91% . C8orf86 684 100% . C8ORFK29 728 69% . C9 1724 100% . C9orf100 1148 91% . C9orf102 2199 99% . C9orf103 584 91% . C9orf106 1 0% . C9orf11 925 100% . C9orf114 1219 99% . C9orf116 423 100% . C9orf117 1599 96% . C9orf123 347 100% . C9orf125 1216 100% . C9orf128 1233 100% . C9orf129 607 86% . C9orf131 3264 100% . C9orf135 714 100% . C9orf139 581 100% . C9orf140 1209 49% . C9orf142 643 73% . C9orf150 695 100% . C9orf152 728 100% . C9orf153 318 100% . C9orf156 1462 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:82

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C9orf16 260 68% . C9orf163 616 93% . C9orf167 1276 67% . C9orf169 447 100% . C9orf170 374 100% . C9orf171 991 100% . C9orf172 2935 66% . C9orf173 1185 100% . C9orf174 5342 98% . C9orf21 727 65% . C9orf23 496 100% . C9orf24 1217 88% . C9orf25 726 100% . C9orf3 2604 98% . C9orf30 902 100% . C9orf30‐TMEFF1 1405 100% . C9orf37 535 89% . C9orf4 1055 64% . C9orf40 593 73% . C9orf41 1298 98% . C9orf43 1486 100% . C9orf46 460 100% . C9orf47 773 69% . C9orf5 2809 86% . C9orf50 1324 69% . C9orf57 506 100% . C9orf64 1042 100% . C9orf66 892 93% . C9orf68 1041 100% . C9orf69 1 0% . C9orf7 540 79% . C9orf71 521 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:83

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

C9orf72 1490 100% . C9orf78 906 100% . C9orf79 4354 100% . C9orf80 365 100% . C9orf82 1110 99% . C9orf84 4645 100% . C9orf85 490 100% . C9orf86 3203 82% . C9orf89 576 87% . C9orf9 697 100% . C9orf91 1107 100% . C9orf93 4093 100% . C9orf95 636 100% . C9orf96 2188 99% . CA1 814 100% . CA10 1023 100% . CA11 1023 98% . CA12 1109 100% . CA13 817 100% . CA14 1058 100% . CA2 811 96% with Renal Tubular Acidosis CA3 811 95% . CA4 971 100% CA4‐Related Retinitis Pigmentosa CA4 971 100% Retinitis Pigmentosa, Autosomal Dominant CA5A 946 100% . CA5B 982 99% . CA6 971 100% . CA7 823 95% . CA8 905 100% . CA9 1424 100% . CAB39 1058 100% . CAB39L 1051 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:84

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CABIN1 6807 98% . CABLES1 1996 74% . CABLES2 1477 76% . CABP1 1652 60% . CABP2 691 73% . CABP4 903 97% CABP4‐Related Autosomal Recessive Congenital Stationary Night Blindness CABP4 903 97% Congenital Stationary Night Blindness, Type 2B CABP5 546 100% . CABP7 668 99% . CABS1 1192 100% . CABYR 2101 100% . CACHD1 3933 99% . CACNA1A 7814 91% CACNA1A‐Related Episodic Ataxia Type 2 CACNA1A 7814 91% Episodic Ataxia Type 2 CACNA1A 7814 91% Familial Hemiplegic Migraine CACNA1A 7814 91% Familial Hemiplegic Migraine 1 CACNA1A 7814 91% Spinocerebellar Ataxia Type 6 CACNA1B 7203 91% . CACNA1C 7314 100% Brugada Syndrome 3 CACNA1C 7314 100% CACNA1D 6850 99% . CACNA1E 7136 100% . CACNA1F 6301 94% CACNA1F‐Related X‐Linked Congenital Stationary Night Blindness CACNA1F 6301 94% Congenital Stationary Night Blindness, X‐Linked CACNA1F 6301 94% X‐linked Cone‐Rod Dystrophy 3 CACNA1G 7614 97% . CACNA1H 7199 93% . CACNA1I 6868 86% . CACNA1S 5798 100% CACNA1S‐Related Malignant Hyperthermia Susceptibility CACNA1S 5798 100% Hypokalemic Periodic Paralysis CACNA1S 5798 100% Hypokalemic Periodic Paralysis Type 1 CACNA1S 5798 100% Malignant Hyperthermia Susceptibility UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:85

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CACNA2D1 3441 100% . CACNA2D2 3621 92% . CACNA2D3 3439 96% . CACNA2D4 3620 98% Retinal Cone Dystrophy 4 CACNB1 2117 95% . CACNB2 2349 96% . CACNB3 1509 100% . CACNB4 1729 98% CACNB4‐Related Episodic Ataxia Type 2 CACNB4 1729 98% CACNB4‐Related Juvenile Myoclonic Epilepsy CACNB4 1729 98% Episodic Ataxia Type 5 CACNB4 1729 98% Juvenile Myoclonic Epilepsy CACNG1 685 100% . CACNG2 988 100% . CACNG3 964 100% . CACNG4 1000 99% . CACNG5 1165 100% . CACNG6 799 81% . CACNG7 875 100% . CACNG8 1294 65% . CACYBP 711 100% . CAD 6967 100% . CADM1 1370 91% . CADM2 1419 100% . CADM3 1339 94% . CADM4 1203 94% . CADPS 4255 95% . CADPS2 4052 95% . CAGE1 2701 96% . CALB1 830 100% . CALB2 860 100% . CALCA 602 100% . CALCB 396 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:86

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CALCOCO1 2132 100% . CALCOCO2 1432 100% . CALCR 1526 100% . CALCRL 1434 100% . CALD1 2491 99% . CALHM1 1049 100% . CALHM2 1082 100% . CALHM3 1047 98% . CALM1 474 99% . CALM2 542 100% . CALM3 474 99% . CALML3 454 100% . CALML4 611 100% . CALML5 445 100% . CALML6 570 95% . CALN1 814 100% . CALR 1290 100% . CALR3 1191 100% . CALU 1198 99% . CALY 901 74% . CAMK1 1527 100% . CAMK1D 1237 100% . CAMK1G 1475 100% . CAMK2A 1546 99% . CAMK2B 2132 91% . CAMK2D 1667 96% . CAMK2G 1855 89% . CAMK2N1 245 75% . CAMK2N2 248 97% . CAMK4 1466 100% . CAMKK1 1743 99% . CAMKK2 1841 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:87

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CAMKMT 1016 89% . CAMKV 1551 100% . CAMLG 907 100% . CAMP 529 100% . CAMSAP1 4877 97% . CAMSAP2 4516 100% . CAMSAP3 3907 78% . CAMTA1 5147 99% . CAMTA2 3869 99% . CAND1 3753 100% . CAND2 3771 96% . CANT1 1218 100% Desbuquois Dysplasia CANX 1839 100% . CAP1 1476 100% . CAP2 1492 100% . CAPG 1083 100% . CAPN1 2229 99% . CAPN10 2067 93% . CAPN11 2312 100% . CAPN12 2244 86% . CAPN13 2124 100% . CAPN14 2139 98% . CAPN2 2194 96% . CAPN3 2578 99% Calpainopathy CAPN3 2578 99% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive CAPN5 2006 100% . CAPN6 1974 100% . CAPN7 2526 97% . CAPN8 1865 99% . CAPN9 2153 100% . CAPNS1 847 96% . CAPNS2 1 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:88

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CAPRIN1 2222 100% . CAPRIN2 3504 100% . CAPS 608 100% . CAPS2 1755 100% . CAPSL 661 100% . CAPZA1 901 100% . CAPZA2 936 95% . CAPZA3 904 100% . CAPZB 962 99% . CARD10 3179 94% . CARD11 3561 97% . CARD14 3260 93% . CARD16 630 100% . CARD17 345 100% . CARD18 2 0% . CARD6 3126 100% . CARD8 1848 100% . CARD9 1702 92% . CARHSP1 456 100% . CARKD 1326 85% . CARM1 1891 86% . CARNS1 2962 65% . CARS 2643 100% . CARS2 1902 94% . CARTPT 363 100% . CASC1 2422 100% . CASC3 2164 99% . CASC4 1413 100% . CASC5 7133 98% . CASD1 2470 94% . CASK 2925 100% CASK‐Related X‐linked Mental Retardation CASKIN1 4376 75% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:89

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CASKIN2 3685 98% . CASP1 1251 100% . CASP10 1760 100% Autoimmune Lymphoproliferative Syndrome CASP10 1760 100% CASP10‐Related Autoimmune Lymphoproliferative Syndrome CASP12 1054 100% . CASP14 753 100% . CASP2 1475 100% . CASP3 873 100% . CASP4 1326 100% . CASP5 1381 100% . CASP6 911 99% . CASP7 1376 79% . CASP8 1768 100% Caspase 8 Deficiency CASP8AP2 5940 100% . CASP9 1500 87% . CASQ1 1242 100% . CASQ2 1244 100% CASQ2‐Related Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 1244 100% Catecholaminergic Polymorphic Ventricular Tachycardia CASR 3291 100% Autosomal Dominant Hypocalcemia CASR 3291 100% CASR‐Associated Familial Isolated Hypoparathyroidism CASR 3291 100% CASR‐Related Disorders CASR 3291 100% CASR‐Related Familial Isolated Hypoparathyroidism CASR 3291 100% Familial Hypocalciuric Hypercalcemia, Type I CASR 3291 100% Familial Isolated Hypoparathyroidism CASR 3291 100% Neonatal Severe Primary Hyperparathyroidism CASS4 2385 100% . CAST 2534 97% . CASZ1 5356 95% . 1636 98% . CATSPER1 2391 100% CATSPER‐Related Male Infertility CATSPER1 2391 100% CATSPER‐Related Nonsyndromic Male Infertility CATSPER2 1646 100% CATSPER‐Related Male Infertility UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:90

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CATSPER2 1646 100% Deafness‐Infertility Syndrome CATSPER3 1229 100% . CATSPER4 1459 100% . CATSPERB 3455 100% . CATSPERG 3847 97% . CAV1 780 99% . CAV2 543 100% . CAV3 464 100% CAV3‐Related Distal Myopathy CAV3 464 100% CAV3‐Related Hypertrophic Cardiomyopathy CAV3 464 100% CAV3‐Related Isolated HyperCKemia CAV3 464 100% CAV3‐Related Rippling Muscle Disease CAV3 464 100% CAV3‐Related Sudden Infant Death Syndrome CAV3 464 100% Caveolinopathies CAV3 464 100% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant CAV3 464 100% Limb‐Girdle Muscular Dystrophy Type 1C CAV3 464 100% Long QT Syndrome 9 CBFA2T2 1897 98% . CBFA2T3 2010 83% . CBFB 619 99% . CBL 2785 96% . CBLB 3057 100% . CBLC 1465 96% . CBLL1 1500 99% . CBLN1 594 100% . CBLN2 687 97% . CBLN3 630 90% . CBLN4 618 100% . CBR1 1118 100% . CBR3 846 100% . CBR4 739 100% . CBS 1716 94% Caused by Cystathionine Beta‐Synthase Deficiency CBWD1 1393 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:91

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CBWD2 1248 96% . CBWD3 2558 39% . CBWD5 1100 31% . CBWD6 1381 56% . CBX1 586 100% . CBX2 1967 99% . CBX3 572 100% . CBX4 1703 97% . CBX5 592 100% . CBX6 1259 98% . CBX7 780 85% . CBX8 1190 100% . CBY1 397 100% . CBY3 737 61% . CC2D1A 2972 98% . CC2D1B 2669 100% . CC2D2A 5235 94% CC2D2A‐Related Joubert Syndrome CC2D2A 5235 94% CC2D2A‐Related Meckel Syndrome CC2D2A 5235 94% Joubert Syndrome CC2D2A 5235 94% Meckel Syndrome CC2D2B 1248 100% . CCAR1 3549 100% . CCBE1 1265 89% Hennekam Lymphangiectasia‐ Syndrome CCBL1 1320 100% . CCBL2 1417 100% . CCBP2 1159 100% . CCDC101 918 100% . CCDC102A 1685 81% . CCDC102B 1570 100% . CCDC103 741 100% . CCDC104 1204 100% . CCDC105 1528 81% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:92

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCDC106 863 100% . CCDC107 917 81% . CCDC108 6290 97% . CCDC109B 1043 90% . CCDC11 1577 100% . CCDC110 2739 94% . CCDC111 1731 100% . CCDC112 1630 98% . CCDC113 1170 99% . CCDC114 2132 100% . CCDC115 563 100% . CCDC116 2056 91% . CCDC117 864 78% . CCDC12 568 100% . CCDC120 2086 73% . CCDC121 1337 90% . CCDC122 842 100% . CCDC124 688 64% . CCDC125 1580 100% . CCDC126 431 100% . CCDC127 791 99% . CCDC129 3205 98% . CCDC13 2214 96% . CCDC130 1227 100% . CCDC132 3083 100% . CCDC134 714 100% . CCDC135 2693 100% . CCDC136 3690 96% . CCDC137 894 88% . CCDC138 2058 100% . CCDC14 2787 100% . CCDC140 496 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:93

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCDC141 4792 100% . CCDC142 2289 100% . CCDC144A 4552 95% . CCDC144NL 682 100% . CCDC146 2944 100% . CCDC147 2691 100% . CCDC148 1837 100% . CCDC149 1716 92% . CCDC15 2916 100% . CCDC150 3460 100% . CCDC151 1840 99% . CCDC152 797 100% . CCDC153 657 60% . CCDC154 2099 65% . CCDC155 1767 99% . CCDC157 2303 94% . CCDC158 3434 100% . CCDC159 1059 78% . CCDC160 982 100% . CCDC164 2291 100% . CCDC165 4844 100% . CCDC166 2 0% . CCDC167 426 100% . CCDC168 7366 21% . CCDC169 895 100% . CCDC169‐SOHLH2 1812 100% . CCDC17 1921 99% . CCDC18 4056 100% . CCDC19 1704 100% . CCDC22 1952 88% . CCDC23 209 100% . CCDC24 956 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:94

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCDC25 691 95% . CCDC27 2019 95% . CCDC28A 849 100% . CCDC28B 801 100% . CCDC3 825 82% . CCDC30 2412 99% . CCDC33 2607 99% . CCDC34 1237 100% . CCDC36 1942 100% . CCDC37 1903 99% . CCDC38 1752 100% . CCDC39 2908 100% Primary Ciliary Dyskinesia14: CCDC39‐Related Primary Ciliary Dyskinesia CCDC40 3799 97% . CCDC41 2166 100% . CCDC42 979 100% . CCDC42B 955 43% . CCDC43 695 100% . CCDC47 1572 100% . CCDC48 1833 29% . CCDC50 1497 100% DFNA44 Nonsyndromic Hearing Loss and Deafness CCDC50 1497 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant CCDC51 1248 100% . CCDC53 613 100% . CCDC54 991 100% . CCDC56 329 100% . CCDC57 3027 100% . CCDC58 455 100% . CCDC59 742 100% . CCDC6 1794 100% . CCDC60 1709 100% . CCDC61 1656 88% . CCDC62 2103 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:95

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCDC63 1736 100% . CCDC64 1758 79% . CCDC64B 1563 86% . CCDC65 1487 100% . CCDC66 2919 100% . CCDC67 1867 100% . CCDC68 1048 100% . CCDC69 1313 100% . CCDC7 1594 100% . CCDC70 706 100% . CCDC71 1408 100% . CCDC71L 1 0% . CCDC72 211 100% . CCDC73 3356 99% . CCDC74A 1534 92% . CCDC74B 2200 96% . CCDC75 824 100% . CCDC76 1517 100% . CCDC77 1511 100% . CCDC78 1548 99% . CCDC79 2252 73% . CCDC8 1621 100% . CCDC80 3069 100% . CCDC81 2019 87% . CCDC82 1707 100% . CCDC83 1379 100% . CCDC84 1043 94% . CCDC85A 1686 97% . CCDC85B 613 51% . CCDC85C 1284 37% . CCDC86 1099 100% . CCDC87 2554 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:96

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCDC88A 6280 100% . CCDC88B 4995 82% . CCDC88C 6207 99% . CCDC89 1129 100% . CCDC9 1640 97% . CCDC90A 1116 63% . CCDC90B 801 100% . CCDC91 1374 100% . CCDC92 1012 100% . CCDC93 1992 100% . CCDC94 1004 99% . CCDC96 1672 97% . CCDC97 1052 97% . CCDC99 2061 98% . CCHCR1 2889 97% . CCIN 1771 100% . CCK 356 100% . CCKAR 1307 100% . CCKBR 1364 100% . CCL1 303 100% . CCL11 306 100% . CCL13 309 100% . CCL14 346 85% . CCL15 358 100% . CCL16 375 100% . CCL17 297 100% . CCL18 282 100% . CCL19 352 100% . CCL2 312 100% . CCL20 307 100% . CCL21 425 100% . CCL22 294 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:97

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCL23 430 100% . CCL24 372 100% . CCL25 473 86% . CCL26 297 100% . CCL27 351 100% . CCL28 396 100% . CCL3 291 100% . CCL3L1 588 31% . CCL3L3 588 31% . CCL4 291 100% . CCL4L1 582 50% . CCL4L2 582 50% . CCL5 288 100% . CCL7 395 100% . CCL8 342 100% . CCM2 1475 98% Familial Cerebral Cavernous Malformation CCM2 1475 98% Familial Cerebral Cavernous Malformation 2 CCNA1 1434 100% . CCNA2 1331 100% . CCNB1 1515 100% . CCNB1IP1 846 100% . CCNB2 1233 98% . CCNB3 4232 100% . CCNC 986 100% . CCND1 908 100% . CCND2 890 100% . CCND3 1003 99% . CCNDBP1 1127 98% . CCNE1 1277 98% . CCNE2 1283 100% . CCNF 2429 99% . CCNG1 908 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:98

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCNG2 1067 100% . CCNH 1065 100% . CCNI 1158 100% . CCNI2 1134 65% . CCNJ 1172 100% . CCNJL 1332 89% . CCNK 1846 92% . CCNL1 1651 93% . CCNL2 1664 100% . CCNO 1080 86% . CCNT1 2217 100% . CCNT2 2292 100% . CCNY 1066 99% . CCNYL1 1120 93% . CCP110 3118 100% . CCPG1 2518 92% . CCR1 1072 100% . CCR10 1097 95% . CCR2 1275 100% . CCR3 1074 100% . CCR4 1087 100% . CCR5 1063 100% . CCR6 1133 100% . CCR7 1149 100% . CCR8 1072 100% . CCR9 1118 100% . CCRL1 1057 100% . CCRL2 1079 100% . CCRN4L 1352 86% . CCS 857 96% . CCT2 1672 100% . CCT3 1694 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:99

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CCT4 1676 100% . CCT5 1768 100% Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia CCT6A 1652 92% . CCT6B 1649 100% . CCT7 1680 100% . CCT8 1711 100% . CCT8L2 1678 100% . CCZ1 1509 80% . CCZ1B 1509 78% . CD101 3102 100% . CD109 4470 98% . CD14 1136 100% . CD151 922 98% . CD160 729 100% . CD163 3773 100% . CD163L1 4468 100% . CD164 669 86% . CD164L2 730 87% . CD177 1186 92% . CD180 1998 100% . CD19 1727 99% Common Variable Immune Deficiency CD1A 1008 100% . CD1B 1283 100% . CD1C 1156 100% . CD1D 1032 96% . CD1E 1316 100% . CD2 1096 100% . CD200 948 98% . CD200R1 1126 100% . CD200R1L 840 100% . CD207 1012 100% . CD209 1301 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:100

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CD22 2596 100% . CD226 1035 100% . CD24 1 0% . CD244 1149 100% . CD247 527 100% . CD248 2278 98% . CD27 807 100% . CD274 897 100% . CD276 1641 100% . CD28 685 100% . CD2AP 1992 100% Focal Segmental Glomerulosclerosis CD2AP 1992 100% Focal Segmental Glomerulosclerosis 3 CD2BP2 1050 100% . CD300A 928 98% . CD300C 691 100% . CD300E 757 100% . CD300LB 733 100% . CD300LD 1293 100% . CD300LF 946 100% . CD300LG 1146 96% . CD302 723 90% . CD320 1135 91% . CD33 1220 100% . CD34 1209 93% . CD36 1467 100% Platelet Glycoprotein IV Deficiency CD37 878 100% . CD38 935 100% . CD3D 536 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, ‐Positive, NK Cell‐Positive, CD3D‐Related CD3E 656 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, B Cell‐Positive, NK Cell‐Positive, CD3E‐Related CD3EAP 1551 98% . CD3G 573 95% Immunodeficiency due to Defect in CD3‐Gamma CD4 1483 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:101

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CD40 1492 100% Immunodeficiency with Hyper‐IgM, Type 3 CD40LG 806 100% X‐Linked Hyper IgM Syndrome CD44 2309 98% . CD46 1312 100% Atypical Hemolytic‐Uremic Syndrome CD46 1312 100% CD46‐Related Atypical Hemolytic‐Uremic Syndrome CD47 1020 95% . CD48 873 100% . CD5 1528 98% . CD52 194 100% . CD53 688 100% . CD55 1503 76% . CD58 798 95% . CD59 399 100% . CD5L 1068 100% . CD6 2059 82% . CD63 745 100% . CD68 1089 100% . CD69 641 100% . CD7 739 88% . CD70 594 100% . CD72 1221 88% . CD74 927 100% . CD79A 701 93% . CD79B 717 100% . CD80 887 100% . CD81 743 97% . CD82 836 100% . CD83 638 100% . CD84 1221 100% . CD86 1018 100% . CD8A 855 69% . CD8B 931 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:102

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CD9 928 98% . CD93 1967 99% . CD96 2011 100% . CD97 2590 97% . CD99 822 95% . CD99L2 1046 91% . CDA 457 100% . CDADC1 1586 95% . CDAN1 3895 95% Congenital Dyserythropoietic Anemia Type I CDC123 1266 100% . CDC14A 1981 100% . CDC14B 1649 96% . CDC16 2034 98% . CDC20 1540 100% . CDC20B 1608 100% . CDC23 1942 100% . CDC25A 1640 90% . CDC25B 1908 94% . CDC25C 1533 100% . CDC26 266 100% . CDC27 2569 100% . CDC34 731 94% . CDC37 1169 100% . CDC37L1 1042 100% . CDC40 1869 100% . CDC42 690 100% . CDC42BPA 5381 100% . CDC42BPB 5284 95% . CDC42BPG 4804 91% . CDC42EP1 1184 100% . CDC42EP2 637 100% . CDC42EP3 769 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:103

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CDC42EP4 1075 100% . CDC42EP5 451 46% . CDC42SE1 252 100% . CDC42SE2 267 100% . CDC45 1946 96% . CDC5L 2476 99% . CDC6 1727 100% Meier‐Gorlin Syndrome 5 CDC7 1769 100% . CDC73 1664 100% CDC73‐Related Disorders CDC73 1664 100% CDC73‐Related Familial Isolated Hyperparathyroidism CDC73 1664 100% CDC73‐Related Parathyroid Carcinoma CDC73 1664 100% Hyperparathyroidism‐Jaw Tumor Syndrome CDCA2 3142 100% . CDCA3 827 100% . CDCA4 730 100% . CDCA5 944 100% . CDCA7 1393 98% . CDCA7L 1437 100% . CDCA8 883 100% . CDCP1 2555 100% . CDCP2 1366 100% . CDH1 2781 99% Hereditary Diffuse Gastric Cancer CDH10 2411 100% . CDH11 2435 100% . CDH12 2429 100% . CDH13 2247 96% . CDH15 2501 89% . CDH16 2558 99% . CDH17 2567 100% . CDH18 2560 100% . CDH19 2363 100% . CDH2 2785 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:104

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CDH20 2450 100% . CDH22 2531 87% . CDH23 10646 100% DFNB12 Nonsyndromic Hearing Loss and Deafness CDH23 10646 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive CDH23 10646 100% Type 1 CDH23 10646 100% Usher Syndrome Type 1D CDH24 2508 90% . CDH26 2593 100% . CDH3 2554 95% EEM Syndrome CDH4 2816 98% . CDH5 2399 100% . CDH6 2527 100% . CDH7 2402 100% . CDH8 2553 100% . CDH9 2414 100% . CDHR1 2850 95% . CDHR2 4057 100% . CDHR3 2734 100% . CDHR4 2578 25% . CDHR5 2598 99% . CDIPT 840 99% . CDK1 926 100% . CDK10 1186 99% . CDK11A 2485 67% . CDK11B 2498 70% . CDK12 4551 100% . CDK13 4595 81% . CDK14 1412 100% . CDK15 1238 100% . CDK16 1847 99% . CDK17 1636 97% . CDK18 1756 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:105

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CDK19 1568 100% . CDK2 925 100% . CDK20 1491 95% . CDK2AP1 364 84% . CDK2AP2 397 63% . CDK3 946 100% . CDK4 940 100% CDK4‐Related Cutaneous Malignant Melanoma CDK4 940 100% Cutaneous Malignant Melanoma CDK5 928 100% . CDK5R1 928 100% . CDK5R2 1108 79% . CDK5RAP1 1816 100% . CDK5RAP2 5918 100% Primary Autosomal Recessive Microcephaly CDK5RAP2 5918 100% Primary Autosomal Recessive Microcephaly Type 3 CDK5RAP3 1577 99% . CDK6 1009 99% . CDK7 1089 99% . CDK8 1447 100% . CDK9 1498 87% . CDKAL1 1796 100% . CDKL1 1166 100% . CDKL2 1522 100% . CDKL3 1831 100% . CDKL4 980 100% . CDKL5 3173 100% CDKL5‐Related X‐Linked Infantile Spasm Syndrome CDKL5 3173 100% Epileptic Encephalopathy, Early Infantile, 2 CDKN1A 508 100% . CDKN1B 605 100% Multiple Endocrine Neoplasia Type 4 CDKN1C 964 31% Beckwith‐Wiedemann Syndrome CDKN2A 1055 95% CDKN2A‐Related Cutaneous Malignant Melanoma CDKN2A 1055 95% Cutaneous Malignant Melanoma CDKN2AIP 1760 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:106

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CDKN2AIPNL 363 100% . CDKN2B 506 100% . CDKN2C 515 100% . CDKN2D 509 86% . CDKN3 685 98% . CDNF 580 100% . CDO1 623 100% . CDON 3940 100% . CDR1 793 100% . CDR2 1385 100% . CDR2L 1626 60% . CDRT1 2393 100% . CDRT15 579 100% . CDRT15L2 854 100% . CDRT4 467 100% . CDS1 1438 97% . CDS2 1390 96% . CDSN 1608 95% . CDT1 1681 95% Meier‐Gorlin Syndrome 4 CDV3 817 72% . CDX1 835 51% . CDX2 954 87% . CDX4 867 100% . CDY1 3408 0% . CDY1B 3408 0% . CDY2A 3260 0% . CDY2B 3260 0% . CDYL 1663 98% . CDYL2 1549 100% . CEACAM1 1730 94% . CEACAM16 1302 98% . CEACAM18 1217 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:107

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CEACAM19 935 98% . CEACAM20 13 0% . CEACAM21 989 100% . CEACAM3 787 100% . CEACAM4 865 100% . CEACAM5 2145 100% . CEACAM6 1055 100% . CEACAM7 814 100% . CEACAM8 1070 100% . CEBPA 1081 50% Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA CEBPB 1042 53% . CEBPD 814 79% . CEBPE 854 100% . CEBPG 457 100% . CEBPZ 3229 100% . CECR1 1863 97% . CECR2 4430 100% . CECR5 1344 94% . CECR6 1815 63% . CEL 2315 82% Maturity‐Onset Diabetes of the Young Type 8, with Exocrine Dysfunction CELA1 809 95% . CELA2A 842 100% . CELA2B 842 100% . CELA3A 849 99% . CELA3B 845 100% . CELF1 1597 95% . CELF2 1687 100% . CELF3 1523 87% . CELF4 1509 96% . CELF5 1506 99% . CELF6 1494 74% . CELSR1 9185 90% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:108

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CELSR2 8908 100% . CELSR3 10079 96% . CEMP1 821 100% . CEND1 454 100% . CENPA 439 76% . CENPB 1804 100% . CENPBD1 568 64% . CENPC1 2955 99% . CENPE 8305 99% . CENPF 9421 100% . CENPH 780 97% . CENPI 2355 100% . CENPJ 4125 100% Primary Autosomal Recessive Microcephaly CENPJ 4125 100% Primary Autosomal Recessive Microcephaly Type 6 CENPK 846 100% . CENPL 1193 88% . CENPM 781 100% . CENPN 1277 100% . CENPO 959 100% . CENPP 964 98% . CENPQ 839 100% . CENPT 1776 99% . CENPV 839 72% . CENPW 324 100% . CEP104 2882 100% . CEP112 3138 100% . CEP120 3043 100% . CEP128 3377 100% . CEP135 3570 100% . CEP152 5237 100% Primary Autosomal Recessive Microcephaly CEP152 5237 100% Primary Autosomal Recessive Microcephaly Type 4 CEP164 4555 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:109

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CEP170 5046 100% . CEP19 512 100% . CEP192 7794 78% . CEP250 7529 98% . CEP290 7652 100% Bardet‐Biedl Syndrome CEP290 7652 100% CEP290‐Related Bardet‐Biedl Syndrome CEP290 7652 100% CEP290‐Related Joubert Syndrome CEP290 7652 100% CEP290‐Related Leber Congenital Amaurosis CEP290 7652 100% CEP290‐Related Meckel Syndrome CEP290 7652 100% Joubert Syndrome CEP290 7652 100% Leber Congenital Amaurosis CEP290 7652 100% Meckel Syndrome CEP290 7652 100% Senior‐Loken Syndrome CEP290 7652 100% Senior‐Loken Syndrome 6 CEP350 9533 100% . CEP41 1166 100% . CEP44 1331 91% . CEP55 1469 100% . CEP57 1548 100% . CEP57L1 1423 100% . CEP63 2271 95% . CEP68 2294 100% . CEP70 1876 100% . CEP72 1992 96% . CEP76 2028 100% . CEP78 2233 100% . CEP85 2341 99% . CEP85L 2610 97% . CEP89 2545 100% . CEP95 2569 99% . CEP97 2664 100% . CEPT1 1283 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:110

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CER1 812 100% . CERCAM 1839 89% . CERK 1666 89% . CERKL 1735 100% CERKL‐Related Retinitis Pigmentosa CERS1 1085 73% . CERS2 1191 100% . CERS3 1193 100% . CERS4 1225 100% . CERS5 1219 100% . CERS6 1223 100% . CES1 1763 77% . CES2 1920 100% . CES3 1900 100% . CES4A 1743 91% . CES5A 1782 100% . CETN1 523 100% . CETN2 539 99% . CETN3 524 100% . CETP 1546 100% CETP‐Related Hyperalphalipoproteinemia CFB 2566 96% Atypical Hemolytic‐Uremic Syndrome CFB 2566 96% CFB‐Related Atypical Hemolytic‐Uremic Syndrome CFC1 1392 15% CFC1‐Related Conotruncal Malformations CFC1 1392 15% Heterotaxy Syndrome CFC1 1392 15% Visceral Heterotaxy 2, Autosomal CFC1B 1392 15% . CFD 782 60% . CFDP1 928 100% . CFH 3820 100% Age‐Related Macular Degeneration CFH 3820 100% Age‐Related Macular Degeneration 4 CFH 3820 100% Atypical Hemolytic‐Uremic Syndrome CFH 3820 100% CFH‐Related Atypical Hemolytic‐Uremic Syndrome CFH 3820 100% CFH‐Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:111

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CFH 3820 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFHR1 1017 93% Atypical Hemolytic‐Uremic Syndrome CFHR1 1017 93% CFHR3 and CFHR1‐Related Atypical Hemolytic‐Uremic Syndrome CFHR2 833 96% . CFHR3 1017 91% Atypical Hemolytic‐Uremic Syndrome CFHR3 1017 91% CFHR3 and CFHR1‐Related Atypical Hemolytic‐Uremic Syndrome CFHR4 1225 100% Atypical Hemolytic‐Uremic Syndrome CFHR5 1822 100% CFHR5‐Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFHR5 1822 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFI 1808 100% Atypical Hemolytic‐Uremic Syndrome CFI 1808 100% CFI‐Related Atypical Hemolytic‐Uremic Syndrome CFL1 517 99% . CFL2 524 99% CFL2‐Related Nemaline Myopathy CFL2 524 99% Nemaline Myopathy CFLAR 1645 100% . CFP 1450 80% , X‐Linked CFTR 4581 100% CFTR‐Related Disorders CFTR 4581 100% CFTR‐Related Hereditary Pancreatitis CFTR 4581 100% Hereditary Pancreatitis CGA 364 100% . CGB 519 54% . CGB1 576 99% . CGB2 504 86% . CGB5 519 92% . CGB7 519 91% . CGB8 516 79% . CGGBP1 508 100% . CGN 3692 99% . CGNL1 3981 100% . CGREF1 1538 90% . CGRRF1 1023 100% . CH25H 823 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:112

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CHAC1 807 100% . CHAC2 567 100% . CHAD 1092 100% . CHADL 2389 47% . CHAF1A 3034 98% . CHAF1B 1732 100% . CHAMP1 2443 100% . CHAT 2351 88% CHAT‐Related Congenital Myasthenic Syndrome CHAT 2351 88% Congenital Myasthenic Syndromes CHCHD1 420 100% . CHCHD10 466 81% . CHCHD2 472 100% . CHCHD3 731 91% . CHCHD4 506 99% . CHCHD5 521 98% . CHCHD6 809 92% . CHCHD7 349 100% . CHCHD8 268 100% . CHD1 5472 100% . CHD1L 2790 97% . CHD2 5710 100% . CHD3 6612 94% . CHD4 5975 100% . CHD5 6075 98% . CHD6 8335 100% . CHD7 9186 100% CHARGE Syndrome CHD7 9186 100% CHD7 9186 100% Kallmann Syndrome 5 CHD8 7499 100% . CHD9 8849 100% . CHDH 1813 84% . CHEK1 1499 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:113

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CHEK2 1864 93% CHEK2‐Related CHEK2 1864 93% Li‐Fraumeni Syndrome, CHEK2‐Related CHEK2 1864 93% Prostate Cancer CHERP 2819 86% . CHFR 2167 84% . CHGA 1589 83% . CHGB 2054 97% . CHI3L1 1363 100% . CHI3L2 1213 100% . CHIA 1475 100% . CHIC1 703 100% . CHIC2 522 100% . CHID1 1352 88% . CHIT1 1449 100% Chitotriosidase Deficiency CHKA 1422 90% . CHKB 1392 94% . CHL1 3779 100% . CHM 2045 99% CHML 1975 100% . CHMP1A 771 100% . CHMP1B 1 0% . CHMP2A 689 100% . CHMP2B 666 100% CHMP2B‐Related Frontotemporal Dementia CHMP3 693 100% . CHMP4A 822 100% . CHMP4B 695 100% . CHMP4C 722 100% . CHMP5 692 100% . CHMP6 638 83% . CHMP7 1402 94% . CHN1 1606 99% Duane Retraction Syndrome 2 CHN1 1606 99% Duane Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:114

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CHN2 1631 100% . CHODL 962 91% . CHORDC1 1043 100% . CHP 616 100% . CHP2 619 100% . CHPF 2353 93% . CHPF2 2335 100% . CHPT1 1292 97% . CHRAC1 408 97% . CHRD 3077 94% . CHRDL1 1421 100% . CHRDL2 1488 95% . CHRFAM7A 1271 49% . CHRM1 1387 100% . CHRM2 1405 100% . CHRM3 1777 100% . CHRM4 1444 100% . CHRM5 1603 100% . CHRNA1 1521 100% CHRNA1‐Related Congenital Myasthenic Syndrome CHRNA1 1521 100% CHRNA1‐Related Multiple Pterygium Syndrome, Lethal Type CHRNA1 1521 100% Congenital Myasthenic Syndromes CHRNA10 1373 88% . CHRNA2 1614 98% CHRNA2‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA2 1614 98% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA3 1708 95% . CHRNA4 1908 91% CHRNA4‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA4 1908 91% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA5 1431 92% . CHRNA6 1521 100% . CHRNA7 1722 63% . CHRNA9 1460 100% . CHRNB1 1550 100% CHRNB1‐Related Congenital Myasthenic Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:115

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CHRNB1 1550 100% Congenital Myasthenic Syndromes CHRNB2 1533 86% CHRNB2‐Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNB2 1533 86% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNB3 1401 100% . CHRNB4 1699 100% . CHRND 1602 100% CHRND‐Related Congenital Myasthenic Syndrome CHRND 1602 100% CHRND‐Related Multiple Pterygium Syndrome, Lethal Type CHRND 1602 100% Congenital Myasthenic Syndromes CHRNE 1530 100% CHRNE‐Related Congenital Myasthenic Syndrome CHRNE 1530 100% Congenital Myasthenic Syndromes CHRNG 1602 100% CHRNG‐Related Disorders CHST1 1240 100% . CHST10 1123 100% . CHST11 1071 100% . CHST12 1249 100% . CHST13 1038 87% . CHST14 1135 84% Adducted ‐ Syndrome CHST15 1888 99% . CHST2 1597 84% . CHST3 1448 79% CHST3‐Related Skeletal Dysplasia CHST3 1448 79% Humerospinal CHST3 1448 79% , Autosomal Recessive CHST3 1448 79% Spondyloepiphyseal Dysplasia, Omani Type CHST4 1165 100% . CHST5 1240 99% . CHST6 1192 99% . CHST7 1465 70% . CHST8 1287 100% . CHST9 1352 100% . CHSY1 2421 92% . CHSY3 2661 87% . CHTF18 3641 82% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:116

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CHTF8 1949 99% . CHTOP 790 100% . CHUK 2322 100% . CHURC1 358 100% . CHURC1‐FNTB 1475 100% . CIAO1 1048 96% . CIAPIN1 1027 100% . CIB1 604 85% . CIB2 588 100% . CIB3 588 100% . CIB4 586 98% . CIC 4907 97% . CIDEA 680 100% . CIDEB 680 99% . CIDEC 804 86% . CIITA 3518 100% . CILP 3587 100% . CILP2 3503 94% . CINP 660 100% . CIR1 1415 99% . CIRBP 992 100% . CIRH1A 2170 100% North American Indian Childhood Cirrhosis CISD1 339 100% . CISD2 420 100% Wolfram Syndrome 2 CISD3 400 0% . CISH 864 97% . CIT 6398 100% . CITED1 672 97% . CITED2 817 100% . CITED4 559 18% . CIZ1 2761 89% . CKAP2 2097 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:117

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CKAP2L 2274 100% . CKAP4 1817 74% . CKAP5 6292 100% . CKB 1174 90% . CKLF 488 100% . CKLF‐CMTM1 623 100% . CKM 1174 100% . CKMT1A 1383 42% . CKMT1B 1430 43% . CKMT2 1296 100% . CKS1B 269 100% . CKS2 252 100% . CLASP1 4847 100% . CLASP2 4910 99% . CLASRP 2109 89% . CLC 445 100% . CLCA1 2801 100% . CLCA2 2888 100% . CLCA4 2819 100% . CLCC1 1696 100% . CLCF1 690 97% CLCF1‐Related Cold‐Induced Sweating Syndrome including Crisponi Syndrome CLCF1 690 97% Cold‐Induced Sweating Syndrome including Crisponi Syndrome CLCN1 3059 96% CLCN1 3059 96% Myotonia Congenita, Autosomal Dominant CLCN1 3059 96% Myotonia Congenita, Autosomal Recessive CLCN2 2793 100% CLCN2‐Related Juvenile Myoclonic Epilepsy CLCN2 2793 100% Juvenile Myoclonic Epilepsy CLCN3 2736 97% . CLCN4 2327 100% . CLCN5 2508 99% Dent Disease CLCN5 2508 99% Dent Disease 1 CLCN6 3045 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:118

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CLCN7 2539 83% CLCN7‐Related Osteopetrosis CLCNKA 2140 99% Bartter Syndrome Type 4B CLCNKB 2288 100% Bartter Syndrome Type 3 CLCNKB 2288 100% Bartter Syndrome Type 4B CLDN1 652 100% . CLDN10 929 100% . CLDN11 636 75% . CLDN12 739 100% . CLDN14 724 99% DFNB29 Nonsyndromic Hearing Loss and Deafness CLDN14 724 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive CLDN15 707 100% . CLDN16 938 100% Primary Hypomagnesemia CLDN17 679 100% . CLDN18 1030 99% . CLDN19 705 90% Hypomagnesemia, Renal, with Ocular Involvement CLDN2 697 100% . CLDN20 664 100% . CLDN22 667 100% . CLDN23 1 0% . CLDN24 619 100% . CLDN25 694 100% . CLDN3 667 100% . CLDN4 634 100% . CLDN5 916 76% . CLDN6 667 100% . CLDN7 694 100% . CLDN8 682 100% . CLDN9 658 100% . CLDND1 874 100% . CLDND2 520 100% . CLEC10A 1169 100% . CLEC11A 1037 79% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:119

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CLEC12A 843 100% . CLEC12B 874 100% . CLEC14A 1477 86% . CLEC16A 3382 100% . CLEC17A 1220 91% . CLEC18A 1483 39% . CLEC18B 1629 85% . CLEC18C 1425 32% . CLEC1A 867 100% . CLEC1B 714 100% . CLEC2A 545 78% . CLEC2B 466 100% . CLEC2D 694 100% . CLEC2L 665 59% . CLEC3A 607 100% . CLEC3B 621 96% . CLEC4A 738 100% . CLEC4C 666 100% . CLEC4D 672 100% . CLEC4E 684 100% . CLEC4F 1798 99% . CLEC4G 1145 91% . CLEC4M 1228 96% . CLEC5A 676 99% . CLEC6A 654 100% . CLEC7A 1013 100% . CLEC9A 750 100% . CLECL1 513 100% . CLGN 1889 100% . CLIC1 786 95% . CLIC2 768 100% . CLIC3 735 75% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:120

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CLIC4 786 99% . CLIC5 1325 99% . CLIC6 2085 45% . CLINT1 1982 100% . CLIP1 4498 100% . CLIP2 3205 99% . CLIP3 1696 95% . CLIP4 2243 100% . CLK1 1651 100% . CLK2 1711 100% . CLK3 2205 80% . CLK4 1494 100% . CLLU1 370 100% . CLLU1OS 318 100% . CLMN 3061 100% . CLMP 1150 100% . CLN3 1395 100% CLN3‐Related Neuronal Ceroid‐Lipofuscinosis CLN3 1395 100% Neuronal Ceroid‐Lipofuscinoses CLN3 1395 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile CLN5 1240 99% CLN5‐Related Neuronal Ceroid‐Lipofuscinosis CLN5 1240 99% Neuronal Ceroid‐Lipofuscinoses CLN5 1240 99% Neuronal Ceroid‐Lipofuscinosis, Finnish Variant CLN6 964 91% CLN6‐Related Neuronal Ceroid‐Lipofuscinosis CLN6 964 91% Neuronal Ceroid‐Lipofuscinoses CLN8 869 100% CLN8‐Related Neuronal Ceroid‐Lipofuscinosis CLN8 869 100% Neuronal Ceroid‐Lipofuscinoses CLN8 869 100% Northern Epilepsy CLNK 1364 100% . CLNS1A 738 96% . CLOCK 2621 100% . CLP1 1286 100% . CLPB 2192 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:121

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CLPP 858 83% . CLPS 352 100% . CLPTM1 2066 96% . CLPTM1L 1685 96% . CLPX 1958 98% . CLRN1 766 100% Usher Syndrome Type 3 CLRN1 766 100% Usher Syndrome Type 3A CLRN2 711 100% . CLRN3 693 100% . CLSPN 4120 100% . CLSTN1 3022 97% . CLSTN2 2946 96% . CLSTN3 2998 96% . CLTA 776 93% . CLTB 714 100% . CLTC 5173 100% . CLTCL1 5051 99% . CLU 1411 100% . CLUAP1 1290 100% . CLUL1 1433 100% . CLVS1 1085 100% . CLVS2 1004 100% . CLYBL 1216 95% . CMA1 764 100% . CMAS 1337 98% . CMBL 758 100% . CMC1 426 74% . CMIP 2107 100% . CMKLR1 1130 100% . CMPK1 747 85% . CMPK2 1374 54% . CMTM1 877 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:122

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CMTM2 763 100% . CMTM3 569 76% . CMTM4 729 74% . CMTM5 491 100% . CMTM6 568 94% . CMTM7 548 70% . CMTM8 538 95% . CMYA5 12262 100% . CNBD1 917 98% . CNBP 582 100% Type 2 CNDP1 1572 100% . CNDP2 1472 100% . CNFN 351 95% . CNGA1 2316 91% CNGA1‐Related Retinitis Pigmentosa CNGA1 2316 91% Retinitis Pigmentosa, Autosomal Recessive CNGA2 2019 99% . CNGA3 2113 100% Achromatopsia CNGA3 2113 100% Achromatopsia 2 CNGA4 1856 100% . CNGB1 3914 98% CNGB1‐Related Retinitis Pigmentosa CNGB1 3914 98% Retinitis Pigmentosa, Autosomal Recessive CNGB3 2502 100% Achromatopsia CNGB3 2502 100% Achromatopsia 3 CNGB3 2502 100% CNGB3‐Related Stargardt Disease 1 CNGB3 2502 100% Stargardt Disease, Autosomal Recessive CNIH 455 82% . CNIH2 507 95% . CNIH3 507 83% . CNIH4 440 99% . CNKSR1 2490 99% . CNKSR2 3202 100% . CNKSR3 1720 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:123

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CNN1 922 100% . CNN2 958 95% . CNN3 1018 100% . CNNM1 2900 85% . CNNM2 2720 99% . CNNM3 2156 62% . CNNM4 2356 96% . CNO 658 56% . CNOT1 7545 100% . CNOT10 2313 99% . CNOT2 1683 100% . CNOT3 2437 100% . CNOT4 2493 100% . CNOT6 1718 100% . CNOT6L 1717 100% . CNOT7 882 100% . CNOT8 903 100% . CNP 1282 99% . CNPPD1 1342 96% . CNPY1 291 100% . CNPY2 569 100% . CNPY3 881 98% . CNPY4 821 100% . CNR1 1423 100% . CNR2 1087 100% . CNRIP1 652 80% . CNST 2233 100% . CNTD1 1021 100% . CNTD2 944 70% . CNTF 623 100% . CNTFR 1151 92% . CNTLN 4359 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:124

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CNTN1 3233 100% . CNTN2 3211 100% . CNTN3 3175 100% . CNTN4 3191 100% . CNTN5 3388 100% . CNTN6 3175 100% . CNTNAP1 4251 99% . CNTNAP2 4092 98% Pitt‐Hopkins‐Like Syndrome 1 CNTNAP3 3997 85% . CNTNAP3B 4143 73% . CNTNAP4 4130 100% . CNTNAP5 4021 100% . CNTRL 7309 100% . CNTROB 2951 100% . COA5 237 97% . COASY 1822 100% . COBL 3838 99% . COBLL1 3614 97% . COBRA1 1795 87% . COCH 1697 100% DFNA 9 Nonsyndromic Hearing Loss and Deafness COCH 1697 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant COG1 2999 99% COG1‐CDG (CDG‐IIg) COG1 2999 99% Congenital Disorders of Glycosylation COG2 2289 100% . COG3 2579 100% . COG4 2446 100% COG4‐CDG (CDG‐IIj) COG4 2446 100% Congenital Disorders of Glycosylation COG5 2675 100% COG5‐CDG (CDG‐IIi) COG5 2675 100% Congenital Disorders of Glycosylation COG6 2175 95% COG6‐CDG (CDG‐IIL) COG6 2175 95% Congenital Disorders of Glycosylation COG7 2381 100% COG7‐CDG (CDG‐IIe) UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:125

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COG7 2381 100% Congenital Disorders of Glycosylation COG8 1859 98% COG8‐CDG (CDG‐IIh) COG8 1859 98% Congenital Disorders of Glycosylation COIL 1759 100% . COL10A1 2051 100% Metaphyseal Chondrodysplasia, Schmid Type COL11A1 5888 100% COL11A1‐Related Stickler Syndrome COL11A1 5888 100% COL11A1 5888 100% Marshall Syndrome COL11A1 5888 100% Stickler Syndrome COL11A2 5951 91% COL11A2‐Related Stickler Syndrome COL11A2 5951 91% DFNA13 Nonsyndromic Hearing Loss and Deafness COL11A2 5951 91% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant COL11A2 5951 91% Otospondylomegaepiphyseal Dysplasia COL11A2 5951 91% Stickler Syndrome COL11A2 5951 91% Weissenbacher‐Zweymuller Syndrome COL12A1 9488 99% . COL13A1 2311 100% . COL14A1 5599 100% . COL15A1 4335 100% . COL16A1 5293 96% . COL17A1 4746 100% COL17A1‐Related Junctional COL17A1 4746 100% Junctional Epidermolysis Bullosa COL18A1 5546 85% Knobloch Syndrome Type I COL19A1 3633 100% . COL1A1 4599 99% Caffey Disease COL1A1 4599 99% COL1A1/2‐Related COL1A1 4599 99% Ehlers‐Danlos Syndrome Type VIIA COL1A1 4599 99% Ehlers‐Danlos Syndrome, Arthrochalasia Type COL1A1 4599 99% Osteogenesis Imperfecta Type I COL1A1 4599 99% Osteogenesis Imperfecta Type II COL1A1 4599 99% Osteogenesis Imperfecta Type III COL1A1 4599 99% Osteogenesis Imperfecta Type IV UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:126

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COL1A2 4309 98% COL1A1/2‐Related Osteogenesis Imperfecta COL1A2 4309 98% Ehlers‐Danlos Syndrome Type VIIB COL1A2 4309 98% Ehlers‐Danlos Syndrome, Arthrochalasia Type COL1A2 4309 98% Osteogenesis Imperfecta Type I COL1A2 4309 98% Osteogenesis Imperfecta Type II COL1A2 4309 98% Osteogenesis Imperfecta Type III COL1A2 4309 98% Osteogenesis Imperfecta Type IV COL20A1 4030 97% . COL21A1 3026 100% . COL22A1 5137 98% . COL23A1 1728 76% . COL24A1 5385 100% . COL25A1 2396 99% . COL27A1 5875 94% . COL28A1 3520 100% . COL2A1 4725 93% Type 2 COL2A1 4725 93% Avascular Necrosis of Femoral Head, Primary COL2A1 4725 93% COL2A1‐Associated Stickler Syndrome COL2A1 4725 93% COL2A1‐Related Stickler Syndrome COL2A1 4725 93% Kniest Dysplasia COL2A1 4725 93% with Mild Chondrodysplasia COL2A1 4725 93% Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 4725 93% Spondyloepimetaphyseal Dysplasia, Strudwick Type COL2A1 4725 93% Spondyloepiphyseal Dysplasia COL2A1 4725 93% Spondyloepiphyseal Dysplasia, Congenita COL2A1 4725 93% Spondyloperipheral Dysplasia COL2A1 4725 93% Stickler Syndrome COL2A1 4725 93% Type II Collagenopathies COL3A1 4605 96% Ehlers‐Danlos Syndrome, Vascular Type COL4A1 5218 98% Autosomal Dominant Type 1 COL4A1 5218 98% Small Vessel Disease with Hemorrhage COL4A1 5218 98% COL4A1‐Related Disorders UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:127

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COL4A1 5218 98% Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle COL4A2 6026 89% . COL4A3 5295 97% COL4A3 and Thin Basement Membrane Nephropathy COL4A3 5295 97% IV‐Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A3BP 2334 97% . COL4A4 5258 100% COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy COL4A4 5258 100% Collagen IV‐Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A5 5262 99% COL4A5 Alport Syndrome COL4A5 5262 99% Collagen IV‐Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A6 5455 100% . COL5A1 5781 93% Ehlers‐Danlos Syndrome, Classic Type COL5A1 5781 93% Ehlers‐Danlos Syndrome, Classic Type, COL5A1‐Related COL5A2 4716 98% Ehlers‐Danlos Syndrome, Classic Type COL5A2 4716 98% Ehlers‐Danlos Syndrome, Classic Type, COL5A2‐Related COL5A3 5506 95% . COL6A1 3227 92% Bethlem Myopathy COL6A1 3227 92% Collagen Type VI‐Related Disorders COL6A2 3546 97% Bethlem Myopathy COL6A2 3546 97% Collagen Type VI‐Related Disorders COL6A2 3546 97% Myosclerosis, Autosomal Recessive COL6A3 9753 100% Bethlem Myopathy COL6A3 9753 100% Collagen Type VI‐Related Disorders COL6A5 7758 31% . COL6A6 6966 100% . COL7A1 9307 99% Dystrophic Epidermolysis Bullosa COL7A1 9307 99% Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe COL8A1 2246 100% . COL8A2 2120 83% . COL9A1 3017 100% COL9A1‐Related Multiple Epiphyseal Dysplasia COL9A1 3017 100% COL9A1‐Related Stickler Syndrome COL9A1 3017 100% Multiple Epiphyseal Dysplasia, Dominant COL9A1 3017 100% Stickler Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:128

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COL9A2 2198 84% COL9A2‐Related Multiple Epiphyseal Dysplasia COL9A2 2198 84% Multiple Epiphyseal Dysplasia, Dominant COL9A3 2183 84% COL9A3‐Related Multiple Epiphyseal Dysplasia COL9A3 2183 84% Multiple Epiphyseal Dysplasia, Dominant COLEC10 858 100% . COLEC11 1025 94% . COLEC12 2269 99% . COLQ 1626 98% COLQ‐Related Congenital Myasthenic Syndrome COLQ 1626 98% Congenital Myasthenic Syndromes COMMD1 585 100% . COMMD10 637 100% . COMMD2 700 100% . COMMD3 712 80% . COMMD3‐BMI1 1475 90% . COMMD4 632 99% . COMMD5 679 100% . COMMD6 340 100% . COMMD7 639 86% . COMMD8 572 88% . COMMD9 621 92% . COMP 2350 93% COMP‐Related Multiple Epiphyseal Dysplasia COMP 2350 93% Multiple Epiphyseal Dysplasia, Dominant COMP 2350 93% Pseudoachondroplasia COMT 983 99% . COMTD1 817 53% . COPA 3834 100% . COPB1 2946 100% . COPB2 2809 100% . COPE 967 85% . COPG 2781 99% . COPG2 1260 100% . COPS2 1405 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:129

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COPS3 1320 100% . COPS4 1290 100% . COPS5 1037 100% . COPS6 1024 95% . COPS7A 856 100% . COPS7B 819 100% . COPS8 662 100% . COPZ1 575 99% . COPZ2 665 87% . COQ10A 1000 97% . COQ10B 737 100% . COQ2 1294 94% Coenzyme Q10 Deficiency COQ2 1294 94% COQ2‐Related Coenzyme Q10 Deficiency COQ3 1138 100% . COQ4 880 100% . COQ5 1257 100% . COQ6 1456 95% . COQ7 678 100% . COQ9 1176 94% Coenzyme Q10 Deficiency COQ9 1176 94% COQ9‐Related Coenzyme Q10 Deficiency CORIN 3465 98% . CORO1A 1695 94% . CORO1B 1626 99% . CORO1C 1470 100% . CORO2A 1622 100% . CORO2B 1491 99% . CORO6 1711 95% . CORO7 2890 98% . CORO7‐PAM16 3271 98% . CORT 476 100% . COTL1 445 72% . COX10 1377 100% Leigh Syndrome (nuclear DNA mutation) UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:130

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

COX10 1377 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX11 849 100% . COX15 1339 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX16 337 100% . COX17 200 100% . COX18 1030 87% . COX19 285 100% . COX4I1 526 100% . COX4I2 532 100% . COX4NB 653 99% . COX5A 469 78% . COX5B 406 77% . COX6A1 342 100% . COX6A2 306 54% . COX6B1 284 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX6B2 279 91% . COX6C 236 100% . COX7A1 256 92% . COX7A2 494 100% . COX7A2L 357 100% . COX7B 255 100% . COX7B2 250 100% . COX7C 200 100% . COX8A 218 94% . COX8C 227 100% . CP 3286 100% Aceruloplasminemia CPA1 1300 100% . CPA2 1304 100% . CPA3 1298 100% . CPA4 1310 100% . CPA5 1355 99% . CPA6 1358 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:131

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CPAMD8 6009 89% . CPB1 1298 100% . CPB2 1316 100% . CPD 4228 91% . CPE 1471 94% . CPEB1 1749 92% . CPEB2 1851 92% . CPEB3 2160 91% . CPEB4 2230 100% . CPLX1 1107 80% . CPLX2 623 86% . CPLX3 489 100% . CPLX4 495 100% . CPM 1364 100% . CPN1 1413 100% . CPN2 1642 100% . CPNE1 4632 100% . CPNE2 1707 98% . CPNE3 1674 100% . CPNE4 1735 100% . CPNE5 1866 94% . CPNE6 1734 100% . CPNE7 1970 81% . CPNE8 1775 99% . CPNE9 1739 100% . CPO 1161 100% . CPOX 1393 87% Hereditary Coproporphyria CPPED1 961 99% . CPS1 4677 100% Carbamoylphosphate Synthetase I Deficiency CPSF1 4480 96% . CPSF2 2405 100% . CPSF3 2134 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:132

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CPSF3L 2504 94% . CPSF4 1037 100% . CPSF4L 567 85% . CPSF6 1695 100% . CPSF7 1581 97% . CPT1A 2434 100% Carnitine Palmitoyltransferase IA Deficiency CPT1B 2391 100% . CPT1C 2598 99% . CPT2 1997 94% Carnitine Palmitoyltransferase II Deficiency CPVL 1483 100% . CPXCR1 910 100% . CPXM1 2411 93% . CPXM2 2327 89% . CPZ 2092 96% . CR1 7670 69% . CR1L 1758 100% . CR2 3355 99% . CRABP1 430 100% . CRABP2 433 100% . CRADD 608 100% . CRAMP1L 3890 85% . CRAT 2132 99% . CRB1 4273 100% CRB1‐Related Leber Congenital Amaurosis CRB1 4273 100% CRB1‐Related Retinitis Pigmentosa CRB1 4273 100% Leber Congenital Amaurosis CRB1 4273 100% Pigmented Paravenous Chorioretinal Atrophy CRB1 4273 100% Retinitis Pigmentosa, Autosomal Recessive CRB2 4052 85% . CRB3 451 86% . CRBN 1385 100% . CRCP 561 100% . CRCT1 304 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:133

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CREB1 1161 100% . CREB3 1152 100% . CREB3L1 1608 100% . CREB3L2 1890 95% . CREB3L3 1426 100% . CREB3L4 1247 100% . CREB5 1628 100% . CREBBP 7453 98% CREBBP‐Related Rubinstein‐Taybi Syndrome CREBBP 7453 98% Rubinstein‐Taybi Syndrome CREBL2 379 100% . CREBZF 1069 100% . CREG1 679 48% . CREG2 889 56% . CRELD1 1521 100% Heterotaxy Syndrome CRELD2 1253 89% . CREM 1353 97% . CRH 595 61% CRH‐Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRH 595 61% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRHBP 1021 99% . CRHR1 1455 91% . CRHR2 1594 83% . CRIM1 3179 100% . CRIP1 250 82% . CRIP2 665 74% . CRIP3 748 100% . CRIPAK 1345 100% . CRIPT 326 94% . CRISP1 778 100% . CRISP2 760 100% . CRISP3 809 95% . CRISPLD1 1559 100% . CRISPLD2 1550 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:134

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CRK 927 100% . CRKL 924 100% . CRLF1 1305 90% Cold‐Induced Sweating Syndrome including Crisponi Syndrome CRLF1 1305 90% Crisponi Syndrome CRLF1 1305 90% CRLF1‐Related Cold‐Induced Sweating Syndrome including Crisponi Syndrome CRLF2 803 99% . CRLF3 1361 100% . CRLS1 947 67% . CRMP1 2160 81% . CRNKL1 2607 97% . CRNN 1496 100% . CROCC 6202 74% . CROT 2015 100% . CRP 683 100% . CRTAC1 2169 94% . CRTAM 1222 100% . CRTAP 1234 97% CRTAP‐Related Osteogenesis Imperfecta CRTC1 2111 92% . CRTC2 2140 100% . CRTC3 1920 95% . CRX 912 100% Cone‐Rod Dystrophy 2 CRX 912 100% CRX‐Related Leber Congenital Amaurosis CRX 912 100% CRX‐Related Retinitis Pigmentosa CRX 912 100% Leber Congenital Amaurosis CRX 912 100% Retinitis Pigmentosa, Autosomal Dominant CRY1 1809 100% . CRY2 1925 98% . CRYAA 534 100% . CRYAB 540 100% Alpha‐B Crystallinopathy CRYAB 540 100% Myofibrillar Myopathy CRYAB 540 100% Posterior Polar Cataract 2 CRYBA1 672 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:135

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CRYBA2 610 100% . CRYBA4 611 100% . CRYBB1 779 100% . CRYBB2 638 100% . CRYBB3 656 100% . CRYGA 537 100% . CRYGB 540 100% . CRYGC 537 100% . CRYGD 537 100% Cataracts, Autosomal Dominant CRYGN 673 98% . CRYGS 549 100% . CRYL1 1202 96% . CRYM 977 91% . CRYZ 1022 100% . CRYZL1 1185 100% . CS 1445 98% . CSAD 1778 96% . CSAG1 525 100% . CSAG2 784 0% . CSAG3 784 0% . CSDA 1155 85% . CSDC2 478 90% . CSDE1 2611 100% . CSE1L 3012 100% . CSF1 1697 97% . CSF1R 3076 100% . CSF2 451 100% . CSF2RA 1594 92% CSF2RA‐Related Pulmonary Surfactant Metabolism Dysfunction CSF2RA 1594 92% Pulmonary Surfactant Metabolism Dysfunction CSF2RB 2764 98% . CSF3 672 94% . CSF3R 2761 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:136

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CSGALNACT1 1627 100% . CSGALNACT2 1657 100% . CSH1 952 78% . CSH2 722 86% . CSHL1 952 100% . CSK 1401 100% . CSMD1 10559 100% . CSMD2 10848 100% . CSMD3 11470 100% . CSN1S1 618 99% . CSN2 705 100% . CSN3 561 100% . CSNK1A1 1147 100% . CSNK1A1L 1018 100% . CSNK1D 1477 88% . CSNK1E 1287 98% . CSNK1G1 1313 100% . CSNK1G2 1292 99% . CSNK1G3 1423 100% . CSNK2A1 1244 100% . CSNK2A2 1097 99% . CSNK2B 719 95% . CSPG4 7009 97% . CSPG5 1721 94% . CSPP1 3782 100% . CSRNP1 1826 98% . CSRNP2 1648 100% . CSRNP3 1797 100% . CSRP1 602 100% . CSRP2 602 100% . CSRP2BP 2389 100% . CSRP3 605 100% CSRP3‐Related Dilated Cardiomyopathy UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:137

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CSRP3 605 100% CSRP3‐Related Familial Hypertrophic Cardiomyopathy CSRP3 605 100% Dilated Cardiomyopathy CSRP3 605 100% Familial Hypertrophic Cardiomyopathy CST1 438 100% . CST11 429 100% . CST2 438 100% . CST3 453 54% . CST4 438 100% . CST5 441 100% . CST6 462 98% . CST7 520 100% . CST8 441 100% . CST9 488 100% . CST9L 456 100% . CSTA 333 100% . CSTB 309 77% Unverricht‐Lundborg Disease CSTF1 1316 100% . CSTF2 1786 100% . CSTF2T 1855 100% . CSTF3 2468 100% . CSTL1 450 100% . CT45A1 586 18% . CT45A2 586 2% . CT45A3 586 10% . CT45A4 1172 3% . CT45A5 586 56% . CT45A6 586 8% . CT47A1 8622 1% . CT47A10 7875 0% . CT47A11 7875 0% . CT47A12 7875 0% . CT47A2 7875 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:138

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CT47A3 7875 0% . CT47A4 7875 0% . CT47A5 7875 0% . CT47A6 8750 3% . CT47A7 875 0% . CT47A8 7875 0% . CT47A9 7875 0% . CT47B1 908 100% . CT62 419 100% . CTAG1A 1448 0% . CTAG1B 1448 0% . CTAG2 780 94% . CTAGE1 2242 100% . CTAGE15P 1 0% . CTAGE4 4676 23% . CTAGE5 2557 100% . CTAGE6P 1 0% . CTAGE9 2338 99% . CTBP1 1779 76% . CTBP2 3056 99% . CTBS 1186 94% . CTC1 3746 99% . CTCF 2224 100% . CTCFL 2034 100% . CTDNEP1 767 100% . CTDP1 2938 83% Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTDSP1 911 84% . CTDSP2 916 100% . CTDSPL 863 90% . CTDSPL2 1449 100% . CTF1 619 24% . CTGF 1070 74% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:139

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CTH 1266 100% CTHRC1 932 85% . CTIF 1990 100% . CTLA4 688 100% . CTNNA1 2789 100% . CTNNA2 2786 100% . CTNNA3 2762 100% . CTNNAL1 2281 94% . CTNNB1 2402 100% . CTNNBIP1 282 98% . CTNNBL1 1761 94% . CTNND1 2986 100% . CTNND2 3766 91% . CTNS 1266 100% CTNS 1266 100% Nephropathic Cystinosis CTPS 1844 100% . CTPS2 1829 100% . CTR9 3622 100% . CTRB1 820 55% . CTRB2 820 38% . CTRC 839 100% CTRC‐Related Hereditary Pancreatitis CTRC 839 100% Hereditary Pancreatitis CTRL 1036 98% . CTSA 1557 97% Galactosialidosis CTSB 1313 94% . CTSC 1559 92% Papillon‐Lefevre Disease CTSC 1559 92% Papillon‐Lefevre Syndrome CTSD 1419 95% CTSD‐Related Neuronal Ceroid‐Lipofuscinosis CTSD 1419 95% Neuronal Ceroid‐Lipofuscinoses CTSE 1285 100% . CTSF 1507 85% . CTSG 788 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:140

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CTSH 1056 90% . CTSK 1019 100% Pycnodysostosis CTSL1 1087 100% . CTSL2 1033 100% . CTSO 998 86% . CTSS 1024 100% . CTSW 1171 100% . CTSZ 936 84% . CTTN 2178 100% . CTTNBP2 5084 99% . CTTNBP2NL 1936 100% . CTU1 1055 45% . CTU2 1821 96% . CTXN1 253 88% . CTXN2 250 0% . CTXN3 250 100% . CUBN 11164 100% Megaloblastic Anemia CUEDC1 1198 96% . CUEDC2 896 100% . CUL1 2415 100% . CUL2 2320 100% . CUL3 2371 100% . CUL4A 2362 90% . CUL4B 2839 100% Mental Retardation, X‐Linked, with , Small Testes, Muscle Wasting, and Tremor CUL5 2420 100% . CUL7 5198 100% 3‐M Syndrome CUL7 5198 100% 3‐M Syndrome, CUL7‐Related CUL9 7785 100% . CUTA 791 99% . CUTC 858 92% . CUX1 5499 94% . CUX2 4557 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:141

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CUZD1 1860 100% . CWC15 713 100% . CWC22 2807 100% . CWC25 1318 100% . CWC27 1475 100% . CWF19L1 1673 100% . CWF19L2 2757 100% . CWH43 2168 99% . CX3CL1 1206 100% . CX3CR1 1172 100% . CXADR 1175 97% . CXCL1 340 100% . CXCL10 313 100% . CXCL11 301 100% . CXCL12 561 93% . CXCL13 346 100% . CXCL14 352 75% . CXCL16 842 100% . CXCL17 376 100% . CXCL2 340 100% . CXCL3 340 100% . CXCL5 361 100% . CXCL6 377 100% . CXCL9 394 100% . CXCR1 1057 100% . CXCR2 1087 100% . CXCR3 1299 100% . CXCR4 1094 100% . CXCR5 1127 100% . CXCR6 1033 100% . CXCR7 1093 100% . CXorf1 340 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:142

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CXorf21 910 100% . CXorf22 2995 100% . CXorf23 2180 100% . CXorf26 835 96% . CXorf27 358 100% . CXorf30 2072 100% . CXorf36 1377 100% . CXorf38 984 100% . CXorf40A 498 99% . CXorf40B 485 100% . CXorf41 669 100% . CXorf48 823 67% . CXorf49 10 0% . CXorf49B 10 0% . CXorf51A 4 0% . CXorf51B 4 0% . CXorf56 697 100% . CXorf57 2755 100% . CXorf58 1067 100% . CXorf59 1607 100% . CXorf61 350 100% . CXorf64 905 100% . CXorf65 636 100% . CXorf66 1098 100% . CXorf68 312 100% . CXorf69 447 74% . CXXC1 2043 100% . CXXC11 1727 94% . CXXC4 605 100% . CXXC5 977 100% . CYB561 823 100% . CYB561D1 887 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:143

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CYB561D2 681 100% . CYB5A 438 100% . CYB5B 487 100% . CYB5D1 703 100% . CYB5D2 811 100% . CYB5R1 1094 100% . CYB5R2 1132 100% . CYB5R3 943 89% Methemoglobinemia Due to Deficiency of Methemoglobin Reductase CYB5R4 1630 100% . CYB5RL 972 100% . CYBA 612 55% Chronic Granulomatous Disease CYBA 612 55% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b‐Negative CYBASC3 804 95% . CYBB 1765 100% Chronic Granulomatous Disease CYBB 1765 100% Chronic Granulomatous Disease, X‐linked CYBRD1 877 100% . CYC1 1006 87% . CYCS 326 100% Thrombocytopenia 4 CYFIP1 4269 96% . CYFIP2 3883 100% . CYGB 589 95% . CYHR1 1621 98% . CYLC1 1976 99% . CYLC2 1067 100% . CYLD 2927 100% Brooke‐Spiegler Syndrome CYLD 2927 100% Familial Cylindromatosis CYLD 2927 100% Multiple Familial Trichoepithelioma 1 CYP11A1 1649 100% . CYP11B1 1650 100% 11‐beta‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia CYP11B1 1650 100% Familial Hyperaldosteronism Type 1 CYP11B2 1548 100% Corticosterone Methyloxidase Type I Deficiency CYP11B2 1548 100% Corticosterone Methyloxidase Type II Deficiency UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:144

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CYP11B2 1548 100% Familial Hyperaldosteronism Type 1 CYP11B2 1548 100% Familial Hypoaldosteronism Type 2 CYP17A1 1559 100% 17‐alpha‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia CYP19A1 1577 100% Aromatase Deficiency CYP1A1 1563 100% . CYP1A2 1575 100% . CYP1B1 1640 95% CYP1B1‐Related Primary Congenital Glaucoma CYP1B1 1640 95% Peters Anomaly CYP1B1 1640 95% Primary Congenital Glaucoma CYP20A1 1474 100% . CYP21A2 1641 79% 21‐Hydroxylase‐Deficient Congenital Adrenal Hyperplasia CYP24A1 1612 96% . CYP26A1 1522 100% . CYP26B1 1563 96% . CYP26C1 1938 80% . CYP27A1 1632 97% Cerebrotendinous Xanthomatosis CYP27B1 1563 92% Vitamin D‐Dependent Rickets, Type I CYP27C1 1147 100% . CYP2A13 1521 100% . CYP2A6 1521 100% . CYP2A7 1531 100% . CYP2B6 1563 100% . CYP2C18 1509 100% . CYP2C19 1509 100% . CYP2C8 1510 100% . CYP2C9 1509 100% . CYP2D6 1586 99% . CYP2E1 1693 100% . CYP2F1 1512 100% . CYP2J2 1545 100% . CYP2R1 1526 100% . CYP2S1 1551 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:145

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CYP2U1 1655 76% . CYP2W1 1721 72% . CYP39A1 1458 100% . CYP3A4 1603 100% . CYP3A43 1579 100% . CYP3A5 1670 100% . CYP3A7 1564 100% . CYP46A1 1590 89% . CYP4A11 1615 100% . CYP4A22 1664 100% . CYP4B1 1587 100% . CYP4F11 1623 100% . CYP4F12 1878 100% . CYP4F2 1611 100% . CYP4F22 1644 100% Autosomal Recessive Congenital Ichthyosis CYP4F22 1644 100% CYP4F22‐Related Autosomal Recessive Congenital Ichthyosis CYP4F3 1612 100% . CYP4F8 1852 100% . CYP4V2 1622 92% Bietti Crystalline Retinopathy CYP4V2 1622 92% Corneal Dystrophy CYP4X1 1578 100% . CYP4Z1 1566 97% . CYP51A1 1570 100% . CYP7A1 1539 100% . CYP7B1 1545 92% Spastic Paraplegia 5A CYP8B1 1510 100% . CYR61 1166 100% . CYS1 489 31% . CYSLTR1 1018 100% . CYSLTR2 1045 100% . CYTH1 1250 98% . CYTH2 1255 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:146

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

CYTH3 1255 93% . CYTH4 1301 100% . CYTIP 1112 100% . CYTL1 427 100% . CYYR1 484 100% . D2HGDH 1604 94% D‐2‐Hydroxyglutaric Aciduria D4S234E 574 100% . DAAM1 3337 100% . DAAM2 3444 100% . DAB1 1765 100% . DAB2 2386 100% . DAB2IP 3564 98% . DACH1 2171 94% Anophthalmia/Microphthalmia DACH2 1898 100% . DACT1 2527 92% . DACT2 2341 85% . DACT3 1953 43% . DAD1 350 100% . DAG1 2698 100% . DAGLA 3205 100% . DAGLB 2079 100% . DAK 1796 98% . DALRD3 1828 86% . DAND5 578 100% . DAO 1084 100% . DAOA 587 100% . DAP 674 94% . DAP3 1245 100% . DAPK1 4393 100% . DAPK2 1223 100% . DAPK3 1397 97% . DAPL1 340 90% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:147

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DAPP1 879 100% . DARC 1046 100% . DARS 1687 100% . DARS2 2006 100% Leukoencephalopathy with Brainstem and Involvement and Lactate Elevation DAXX 2292 98% . DAZ1 2382 2% . DAZ2 3706 6% . DAZ3 4398 6% . DAZ4 6394 5% . DAZAP1 1365 97% . DAZAP2 925 100% . DAZL 999 99% . DBC1 2355 100% . DBF4 2073 100% . DBF4B 1977 99% . DBH 1903 100% Dopamine Beta‐Hydroxylase Deficiency DBI 362 99% . DBN1 2306 95% . DBNDD1 588 94% . DBNDD2 1029 80% . DBNL 1499 88% . DBP 1191 53% . DBR1 1667 100% . DBT 1493 100% Maple Syrup Urine Disease DBT 1493 100% Maple Syrup Urine Disease Type 2 DBX1 1165 87% . DBX2 1036 79% . DCAF10 1708 88% . DCAF11 1708 100% . DCAF12 1398 100% . DCAF12L1 1396 100% . DCAF12L2 1396 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:148

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DCAF13 1838 100% . DCAF15 1855 93% . DCAF16 655 100% . DCAF17 1619 93% . DCAF4 1543 100% . DCAF4L1 1195 100% . DCAF4L2 1192 100% . DCAF5 2865 100% . DCAF6 2948 100% . DCAF7 1058 100% . DCAF8 1842 100% . DCAF8L1 1807 100% . DCAF8L2 1 0% . DCAKD 712 100% . DCBLD1 1840 94% . DCBLD2 2508 97% . DCC 4460 100% . DCD 353 91% . DCDC1 1093 100% . DCDC2 1796 100% . DCDC2B 1086 97% . DCDC5 2826 100% . DCHS1 10263 95% . DCHS2 11085 94% . DCK 941 100% . DCLK1 2449 100% . DCLK2 2420 99% . DCLK3 1963 100% . DCLRE1A 3159 100% . DCLRE1B 1615 100% . DCLRE1C 2135 100% Omenn Syndrome DCN 1108 100% Congenital Stromal Corneal Dystrophy UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:149

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DCP1A 1800 100% . DCP1B 1890 100% . DCP2 1537 100% . DCPS 1038 100% . DCST1 2190 100% . DCST2 2382 100% . DCT 1848 100% . DCTD 594 95% . DCTN1 4113 100% Distal Hereditary Motor Neuronopathy Type VIIB DCTN1 4113 100% Perry Syndrome DCTN2 1262 97% . DCTN3 939 100% . DCTN4 1460 98% . DCTN5 575 100% . DCTN6 601 100% . DCTPP1 525 100% . DCUN1D1 808 100% . DCUN1D2 950 84% . DCUN1D3 923 100% . DCUN1D4 942 97% . DCUN1D5 746 100% . DCX 1369 100% DCX‐Related Disorders DCXR 767 90% . DDA1 329 92% . DDAH1 882 95% . DDAH2 958 96% . DDB1 3531 98% . DDB2 1324 100% DDB2‐Related DDB2 1324 100% Xeroderma Pigmentosum DDC 1584 100% Aromatic L‐ Decarboxylase Deficiency DDHD1 2780 97% . DDHD2 2200 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:150

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DDI1 1195 100% . DDI2 1236 100% . DDIT3 518 100% . DDIT4 707 100% . DDIT4L 590 100% . DDN 2144 100% . DDO 1130 100% . DDOST 1415 88% . DDR1 3096 96% . DDR2 2808 100% Spondylometaepiphyseal Dysplasia, Short Limb‐ Type DDRGK1 1153 96% . DDT 394 20% . DDTL 417 30% . DDX1 2327 99% . DDX10 2704 100% . DDX11 3173 100% . DDX17 2258 100% . DDX18 2069 100% . DDX19A 1594 100% . DDX19B 1488 100% . DDX20 2519 98% . DDX21 2412 100% . DDX23 2527 100% . DDX24 2612 100% . DDX25 1500 96% . DDX26B 2654 100% . DDX27 2769 100% . DDX28 1627 100% . DDX31 2701 98% . DDX39A 1570 100% . DDX39B 1688 96% . DDX3X 2061 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:151

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DDX3Y 2051 100% . DDX4 2300 98% . DDX41 2016 100% . DDX42 2885 100% . DDX43 2011 100% . DDX46 3191 100% . DDX47 1445 100% . DDX49 1533 97% . DDX5 1897 100% . DDX50 2274 98% . DDX51 2061 76% . DDX52 1860 100% . DDX53 1900 100% . DDX54 2729 96% . DDX55 1931 96% . DDX56 1889 100% . DDX58 2850 100% . DDX59 1888 100% . DDX6 1500 100% . DDX60 5345 100% . DDX60L 5276 100% . DEAF1 1746 83% . DECR1 1048 100% 2,4‐Dienoyl‐CoA Reductase Deficiency DECR2 990 90% . DEDD 1063 100% . DEDD2 997 97% . DEF6 1940 92% . DEF8 1667 96% . DEFA1 879 32% . DEFA1B 879 32% . DEFA3 293 97% . DEFA4 302 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:152

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DEFA5 293 100% . DEFA6 311 100% . DEFB1 215 100% . DEFB103A 424 0% . DEFB103B 424 0% . DEFB104A 454 61% . DEFB104B 454 61% . DEFB105A 498 30% . DEFB105B 498 30% . DEFB106A 412 89% . DEFB106B 412 89% . DEFB107A 442 22% . DEFB107B 442 22% . DEFB108B 230 100% . DEFB110 350 100% . DEFB112 350 100% . DEFB113 257 100% . DEFB114 218 100% . DEFB115 275 100% . DEFB116 317 100% . DEFB118 380 100% . DEFB119 517 100% . DEFB121 240 100% . DEFB123 212 100% . DEFB124 224 100% . DEFB125 479 100% . DEFB126 344 100% . DEFB127 308 100% . DEFB128 290 100% . DEFB129 560 100% . DEFB130 496 20% . DEFB131 221 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:153

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DEFB132 296 100% . DEFB133 194 100% . DEFB134 209 100% . DEFB135 242 100% . DEFB136 245 100% . DEFB4A 203 39% . DEFB4B 203 85% . DEGS1 984 91% . DEGS2 984 91% . DEK 1210 100% . DEM1 1126 100% . DENND1A 3225 90% . DENND1B 2462 99% . DENND1C 2498 99% . DENND2A 3165 100% . DENND2C 2863 100% . DENND2D 1464 100% . DENND3 3940 99% . DENND4A 5848 98% . DENND4B 4599 100% . DENND4C 5189 100% . DENND5A 3956 99% . DENND5B 3954 97% . DENR 631 99% . DEPDC1 2781 100% . DEPDC1B 1634 98% . DEPDC4 1041 100% . DEPDC5 5062 100% . DEPDC7 1731 97% . DEPTOR 1266 100% . DERA 1098 97% . DERL1 788 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:154

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DERL2 748 100% . DERL3 992 77% . DES 1449 93% Desminopathy DES 1449 93% DES‐Related Dilated Cardiomyopathy DES 1449 93% Dilated Cardiomyopathy DES 1449 93% Myofibrillar Myopathy DES 1449 93% Neurogenic Scapuloperoneal Syndrome , Kaeser Type DET1 1706 100% . DEXI 292 98% . DFFA 1044 100% . DFFB 1117 99% . DFNA5 1578 100% DFNA 5 Nonsyndromic Hearing Loss and Deafness DFNA5 1578 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant DFNB31 3086 99% DFNB31 Nonsyndromic Hearing Loss and Deafness DFNB31 3086 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive DFNB31 3086 99% Usher Syndrome Type 2 DFNB31 3086 99% Usher Syndrome Type 2D DFNB59 1139 100% DFNB59 Nonsyndromic Hearing Loss and Deafness DFNB59 1139 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive DGAT1 1535 85% . DGAT2 1199 100% . DGAT2L6 1042 99% . DGCR14 1471 100% . DGCR2 1693 95% . DGCR6 683 99% . DGCR6L 683 99% . DGCR8 2374 100% . DGKA 2486 100% . DGKB 2530 100% . DGKD 3789 96% . DGKE 1748 100% . DGKG 2472 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:155

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DGKH 3835 99% . DGKI 3364 93% . DGKK 28 0% . DGKQ 3149 81% . DGKZ 4099 80% . DGUOK 862 100% DGUOK‐Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DGUOK 862 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DHCR24 1587 100% Desmosterolosis DHCR7 1456 100% Smith‐Lemli‐Opitz Syndrome DHDDS 1148 100% . DHDH 1033 98% . DHFR 588 100% . DHFRL1 568 100% . DHH 1203 85% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis DHH 1203 85% DHH‐Related 46,XY DSD and 46,XY CGD DHODH 1224 90% . DHPS 1147 100% . DHRS1 974 100% . DHRS11 811 85% . DHRS12 1026 91% . DHRS13 1154 90% . DHRS2 935 100% . DHRS3 933 100% . DHRS4 869 100% . DHRS4L1 463 99% . DHRS4L2 750 100% . DHRS7 1160 100% . DHRS7B 1016 98% . DHRS7C 963 100% . DHRS9 976 100% . DHRSX 1028 88% . DHTKD1 2858 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:156

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DHX15 2444 100% . DHX16 3376 96% . DHX29 4218 100% . DHX30 3676 100% . DHX32 2276 100% . DHX33 2349 93% . DHX34 3496 98% . DHX35 2200 100% . DHX36 3127 100% . DHX37 3582 99% . DHX38 3788 97% . DHX40 2412 89% . DHX57 4253 100% . DHX58 2085 100% . DHX8 3755 100% . DHX9 3921 100% . DIABLO 746 99% . DIAPH1 3921 96% DFNA 1 Nonsyndromic Hearing Loss and Deafness DIAPH1 3921 96% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant DIAPH2 3500 97% . DIAPH3 3854 100% . DICER1 5873 100% . DIDO1 6909 99% . DIEXF 2459 100% . DIMT1 1009 99% . DIO1 766 100% . DIO2 1057 100% . DIO3 919 100% . DIP2A 4954 98% . DIP2B 4918 98% . DIP2C 4819 99% . DIRAS1 601 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:157

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DIRAS2 604 100% . DIRAS3 694 100% . DIRC1 319 100% . DIRC2 1473 94% . DIS3 3033 98% . DIS3L 3233 96% . DIS3L2 2949 97% . DISC1 2853 97% . DISP1 4603 100% . DISP2 4238 96% . DIXDC1 2158 99% . DKC1 1639 99% DKC1‐Related DKC1 1639 99% Dyskeratosis Congenita DKFZp761E198 1 0% . DKK1 817 100% . DKK2 796 100% . DKK3 1123 100% . DKK4 691 100% . DKKL1 749 100% . DLAT 2000 100% Dihydrolipoamide Acetyltransferase (E2) Deficiency DLC1 4740 100% . DLD 1586 100% Dihydrolipoamide Dehydrogenase (E3) Deficiency DLD 1586 100% Leigh Syndrome (nuclear DNA mutation) DLD 1586 100% Maple Syrup Urine Disease Type 3 DLEC1 5714 100% . DLEU7 491 52% . DLG1 3240 100% . DLG2 3604 100% . DLG3 2818 92% DLG3‐Related X‐Linked Nonsyndromic Mental Retardation DLG4 2528 99% . DLG5 5888 97% . DLGAP1 3215 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:158

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DLGAP2 3038 100% . DLGAP3 2980 94% . DLGAP4 3199 100% . DLGAP5 2708 99% . DLK1 1172 100% . DLK2 1172 94% . DLL1 2290 86% . DLL3 1899 69% DLL3‐Related Spondylocostal Dysostosis, Autosomal Recessive DLL3 1899 69% Spondylocostal Dysostosis DLL3 1899 69% Spondylocostal Dysostosis, Autosomal Recessive DLL3 1899 69% , Type IV DLL4 2102 100% . DLST 1422 99% . DLX1 1020 100% . DLX2 999 93% . DLX3 876 100% Amelogenesis Imperfecta, Type IV DLX4 802 100% . DLX5 882 100% . DLX6 814 96% . DMAP1 1444 99% . DMBT1 7577 80% . DMBX1 1165 100% . DMC1 1075 100% . DMD 11700 100% DMD‐Associated Dilated Cardiomyopathy DMD 11700 100% DMD‐Related Dilated Cardiomyopathy DMD 11700 100% Dystrophinopathies DMGDH 2665 96% . DMKN 1884 97% . DMP1 1562 100% Hypophosphatemic Rickets, Autosomal Recessive 1 DMPK 2147 89% Myotonic Dystrophy Type 1 DMRT1 1142 93% . DMRT2 1755 76% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:159

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DMRT3 1470 97% . DMRTA1 1523 95% . DMRTA2 1637 53% . DMRTB1 1045 80% . DMRTC1 1206 22% . DMRTC1B 1206 22% . DMRTC2 1285 100% . DMTF1 2348 100% . DMWD 2045 87% . DMXL1 9256 100% . DMXL2 9283 100% . DNA2 3578 100% . DNAAF1 2274 98% . DNAAF2 2526 98% . DNAH1 13519 100% . DNAH10 13749 100% . DNAH11 13901 100% Primary Ciliary Dyskinesia DNAH11 13901 100% Primary Ciliary Dyskinesia 7: DNAH11‐Related Primary Ciliary Dyskinesia DNAH12 9661 62% . DNAH14 14081 76% . DNAH17 13959 100% . DNAH2 14093 100% . DNAH3 12697 100% . DNAH5 14191 99% Primary Ciliary Dyskinesia DNAH5 14191 99% Primary Ciliary Dyskinesia 3: DNAH5‐Related Primary Ciliary Dyskinesia DNAH6 12865 100% . DNAH7 12339 100% . DNAH8 14534 100% . DNAH9 13737 97% . DNAI1 2180 96% Primary Ciliary Dyskinesia DNAI1 2180 96% Primary Ciliary Dyskinesia 1: DNAI1‐Related Primary Ciliary Dyskinesia DNAI2 1866 100% Primary Ciliary Dyskinesia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:160

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DNAI2 1866 100% Primary Ciliary Dyskinesia 9: DNAI2‐Related Primary Ciliary Dyskinesia DNAJA1 1226 100% . DNAJA2 1275 100% . DNAJA3 1514 99% . DNAJA4 1445 94% . DNAJB1 1035 100% . DNAJB11 1117 100% . DNAJB12 1262 100% . DNAJB13 983 100% . DNAJB14 1172 100% . DNAJB2 1066 100% . DNAJB3 1 0% . DNAJB4 1026 100% . DNAJB5 1280 86% . DNAJB6 1129 77% . DNAJB7 934 100% . DNAJB8 703 100% . DNAJB9 680 100% . DNAJC1 1713 94% . DNAJC10 2470 100% . DNAJC11 1744 100% . DNAJC12 644 100% . DNAJC13 6991 100% . DNAJC14 2226 100% . DNAJC15 477 100% . DNAJC16 2415 100% . DNAJC17 1039 100% . DNAJC18 1109 100% . DNAJC19 375 99% 3‐Methylglutaconic Aciduria Type 5 DNAJC2 1976 100% . DNAJC21 1822 100% . DNAJC22 1034 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:161

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DNAJC24 466 100% . DNAJC25 1099 72% . DNAJC25‐GNG10 470 34% . DNAJC27 850 100% . DNAJC28 1171 100% . DNAJC3 1563 100% . DNAJC30 685 100% . DNAJC4 750 96% . DNAJC5 613 97% . DNAJC5B 616 100% . DNAJC5G 593 100% . DNAJC6 2824 100% . DNAJC7 1541 100% . DNAJC8 798 100% . DNAJC9 997 80% . DNAL1 605 100% . DNAL4 384 98% . DNALI1 867 100% . DNASE1 881 100% . DNASE1L1 1012 100% . DNASE1L2 924 91% . DNASE1L3 1041 100% . DNASE2 1107 98% . DNASE2B 1110 100% . DND1 1078 84% . DNER 2266 88% . DNHD1 14435 57% . DNLZ 549 81% . DNM1 2709 90% . DNM1L 2516 100% Lethal Encephalopathy Due To Defective Mitochondrial Peroxisomal Fission DNM2 2840 98% DNM2‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy DNM2 2840 98% Myotubular Myopathy, Dominant UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:162

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DNM3 2661 100% . DNMBP 4870 100% . DNMT1 5063 99% . DNMT3A 3050 94% . DNMT3B 2690 100% Immunodeficiency‐Centromeric Instability‐Facial Anomalies Syndrome DNMT3L 1208 100% . DNPEP 1563 100% . DNTT 1574 100% . DNTTIP1 1091 94% . DNTTIP2 2461 100% . DOC2A 1243 93% . DOC2B 951 51% . DOCK1 5806 99% . DOCK10 6785 98% . DOCK11 6446 98% . DOCK2 5701 99% . DOCK3 6305 98% . DOCK4 6119 100% . DOCK5 5965 100% . DOCK6 6403 98% . DOCK7 6535 99% . DOCK8 7516 99% Autosomal Recessive Hyper IgE Syndrome DOCK9 6872 98% . DOHH 925 52% . DOK1 1466 100% . DOK2 1259 97% . DOK3 1867 89% . DOK4 1013 100% . DOK5 953 100% . DOK6 1028 100% . DOK7 1543 90% Congenital Myasthenic Syndromes DOK7 1543 90% DOK7‐Related Congenital Myasthenic Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:163

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DOK7 1543 90% DOK7‐Related Fetal Akinesia Deformation Sequence DOLK 1621 100% Congenital Disorders of Glycosylation DOLK 1621 100% DOLK‐CDG (CDG‐Im) DOLPP1 749 100% . DOM3Z 1305 98% . DONSON 1741 86% . DOPEY1 7697 100% . DOPEY2 7041 100% . DOT1L 4726 97% . DPAGT1 1337 100% Congenital Disorders of Glycosylation DPAGT1 1337 100% DPAGT1‐CDG (CDG‐Ij) DPCD 636 99% . DPCR1 4205 84% . DPEP1 1276 100% . DPEP2 1501 99% . DPEP3 1582 94% . DPF1 1323 97% . DPF2 1220 100% . DPF3 1110 100% . DPH1 1486 96% . DPH2 1494 99% . DPH3 261 100% . DPH3P1 1 0% . DPH5 887 100% . DPM1 819 100% Congenital Disorders of Glycosylation DPM1 819 100% DPM1‐CDG (CDG‐Ie) DPM2 468 100% . DPM3 373 100% Congenital Disorders of Glycosylation DPM3 373 100% DPM3‐CDG (CDG‐Io) DPP10 2666 96% . DPP3 2345 100% . DPP4 2409 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:164

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DPP6 2818 97% . DPP7 1601 86% . DPP8 2777 100% . DPP9 2794 100% . DPPA2 925 100% . DPPA3 496 100% . DPPA4 943 100% . DPPA5 363 100% . DPRX 588 100% . DPT 622 100% . DPY19L1 2116 96% . DPY19L2 2365 97% . DPY19L3 2307 100% . DPY19L4 2249 99% . DPY30 316 100% . DPYD 3213 100% Hereditary Thymine‐Uraciluria DPYS 1596 83% Deficiency DPYSL2 2133 83% . DPYSL3 2154 86% . DPYSL4 1775 99% . DPYSL5 1743 100% . DQX1 2230 100% . DR1 543 100% . DRAM1 745 86% . DRAM2 829 100% . DRAP1 667 94% . DRD1 1345 100% . DRD2 1360 100% Myoclonus‐Dystonia DRD3 1227 100% Hereditary Essential Tremor DRD4 1276 62% . DRD5 1438 100% . DRG1 1140 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:165

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DRG2 1147 94% . DRGX 831 100% . DROSHA 4261 100% . DRP2 2970 98% . DSC1 2789 100% . DSC2 2812 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant DSC2 2812 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11 DSC3 2786 98% . DSCAM 6212 100% . DSCAML1 6474 99% . DSCC1 1218 92% . DSCR3 926 100% . DSCR4 369 100% . DSCR6 589 82% . DSE 2897 98% . DSEL 3673 100% . DSG1 3210 100% . DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10 DSG2 3417 99% DSG2‐Related Dilated Cardiomyopathy DSG3 3064 100% . DSG4 3308 100% Localized Autosomal Recessive Hypotrichosis DSN1 1111 100% . DSP 8712 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8 DSP 8712 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant DSP 8712 100% Cardiomyopathy, Dilated, with Woolly and DSP 8712 100% DSP‐Related / Fragility Syndrome DSP 8712 100% Ectodermal Dysplasia/ DSP 8712 100% Epidermolysis Bullosa, Lethal Acantholytic DSP 8712 100% Skin Fragility‐Woolly Hair Syndrome DSPP 3922 46% , Type II DSPP 3922 46% Dentinogenesis Imperfecta 1 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:166

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DSPP 3922 46% Dentinogenesis Imperfecta, Shields Type III DST 20675 100% . DSTN 514 99% . DSTYK 2842 100% . DTD1 650 93% . DTHD1 2762 76% . DTL 2253 100% . DTNA 2501 96% Familial Isolated Noncompaction of Left Ventricular Myocardium DTNB 1960 100% . DTNBP1 1201 100% Hermansky‐Pudlak Syndrome DTNBP1 1201 100% Hermansky‐Pudlak Syndrome 7 DTWD1 931 100% . DTWD2 923 100% . DTX1 1899 81% . DTX2 1909 96% . DTX3 1088 100% . DTX3L 2243 100% . DTX4 1896 100% . DTYMK 659 93% . DUOX1 4931 95% . DUOX2 4783 93% Congenital Hypothyroidism DUOX2 4783 93% Congenital Hypothyroidism, DUOX2‐Related DUOXA1 1615 100% . DUOXA2 1348 100% . DUPD1 675 100% . DUS1L 1474 100% . DUS2L 1542 100% . DUS3L 2005 99% . DUS4L 982 100% . DUSP1 1120 77% . DUSP10 1461 100% . DUSP11 1170 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:167

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DUSP12 1047 100% . DUSP13 1162 92% . DUSP14 601 100% . DUSP15 736 79% . DUSP16 2022 100% . DUSP18 571 100% . DUSP19 670 100% . DUSP2 961 63% . DUSP21 577 100% . DUSP22 697 100% . DUSP23 461 44% . DUSP26 648 100% . DUSP27 3497 100% . DUSP28 539 82% . DUSP3 570 80% . DUSP4 1365 99% . DUSP5 1171 100% . DUSP6 1158 100% . DUSP7 1349 85% . DUSP8 1902 58% . DUSP9 1167 71% . DUT 803 82% . DUX2 7144 0% . DUX4 2755 0% . DUX4L2 7143 0% . DUX4L3 8728 0% . DUX4L4 5782 8% . DUX4L5 8728 0% . DUX4L6 8728 0% . DUX4L7 4 0% . DUXA 639 100% . DVL1 2148 92% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:168

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DVL2 2271 100% . DVL3 2306 100% . DYDC1 609 100% . DYDC2 577 100% . DYM 2074 100% Dyggve‐Melchior‐Clausen Syndrome DYM 2074 100% Smith‐McCort Dysplasia DYNC1H1 14253 100% . DYNC1I1 2002 100% . DYNC1I2 2039 100% . DYNC1LI1 1624 99% . DYNC1LI2 1531 100% . DYNC2H1 13305 99% Asphyxiating Thoracic Dystrophy 3 DYNC2H1 13305 99% Short Syndrome, Verma‐Naumoff Type DYNC2LI1 1222 100% . DYNLL1 278 100% . DYNLL2 278 100% . DYNLRB1 426 100% . DYNLRB2 307 100% . DYNLT1 588 100% . DYNLT3 371 91% . DYRK1A 2461 100% . DYRK1B 1930 88% . DYRK2 1818 100% . DYRK3 1800 96% . DYRK4 1607 100% . DYSF 6722 97% Dysferlinopathy DYSF 6722 97% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive DYTN 1785 100% . DYX1C1 1402 100% . DZANK1 2361 100% . DZIP1 2818 98% . DZIP1L 2568 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:169

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

DZIP3 3751 100% . 1343 79% . 1342 99% . 1427 100% . 1282 95% . 1076 91% . E2F6 874 96% . E2F7 2784 100% . E2F8 2652 100% . 2501 95% . EAF1 831 87% . EAF2 807 100% . EAPP 882 100% . EARS2 2283 100% . EBAG9 666 100% . EBF1 1840 95% . EBF2 1792 97% . EBF3 1855 100% . EBF4 2192 57% . EBI3 710 100% . EBLN1 1 0% . EBLN2 1 0% . EBNA1BP2 958 100% . EBP 709 98% Chondrodysplasia Punctata 2, X‐Linked Dominant EBPL 637 99% . ECD 2090 95% . ECE1 2540 96% ECE1‐Related Hirschsprung Disease ECE1 2540 96% Hirschsprung Disease ECE2 3346 99% . ECEL1 2396 87% . ECH1 1027 98% . ECHDC1 970 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:170

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ECHDC2 919 98% . ECHDC3 1091 72% . ECHS1 905 91% . ECI1 937 84% . ECI2 1307 100% . ECM1 1750 100% . ECM2 2151 100% . ECSCR 347 53% . ECSIT 1324 92% . ECT2 2744 100% . ECT2L 2795 100% . EDA 1245 100% Hypohidrotic Ectodermal Dysplasia EDA 1245 100% Hypohidrotic Ectodermal Dysplasia, X‐Linked EDA 1245 100% Tooth Agenesis, Selective, X‐Linked, 1 EDA2R 981 98% . EDAR 1483 100% Hypohidrotic Ectodermal Dysplasia EDAR 1483 100% Hypohidrotic Ectodermal Dysplasia, Autosomal EDARADD 707 98% Hypohidrotic Ectodermal Dysplasia EDARADD 707 98% Hypohidrotic Ectodermal Dysplasia, Autosomal EDC3 1551 100% . EDC4 4322 98% . EDDM3A 448 100% . EDDM3B 448 100% . EDEM1 2081 96% . EDEM2 1781 100% . EDEM3 2879 100% . EDF1 502 100% . EDIL3 1487 100% . EDN1 659 100% . EDN2 557 90% . EDN3 776 100% EDN3‐Related Hirschsprung Disease EDN3 776 100% Hirschsprung Disease UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:171

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EDN3 776 100% Type IVB EDNRA 1312 100% . EDNRB 1752 100% EDNRB‐Related Hirschsprung Disease EDNRB 1752 100% Hirschsprung Disease EDNRB 1752 100% Waardenburg Syndrome Type IVA EEA1 4352 100% . EED 1378 100% . EEF1A1 1430 100% . EEF1A2 1558 83% . EEF1B2 733 100% . EEF1D 1976 100% . EEF1E1 650 94% . EEF1G 1354 100% . EEF2 2637 96% . EEF2K 2246 100% . EEFSEC 1819 94% . EEPD1 1738 100% . EFCAB1 660 100% . EFCAB11 516 100% . EFCAB2 846 62% . EFCAB3 1521 90% . EFCAB4A 1926 69% . EFCAB4B 2334 75% . EFCAB5 4771 96% . EFCAB6 4665 100% . EFCAB7 1942 100% . EFCAB9 610 100% . EFEMP1 1522 100% Doyne Honeycomb Retinal Dystrophy EFEMP2 1372 89% EFEMP2‐Related Cutis Laxa EFEMP2 1372 89% FBLN4 (EFEMP2)‐Related Cutis Laxa EFHA1 1353 99% . EFHA2 1649 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:172

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EFHB 2701 100% . EFHC1 2082 100% EFHC1‐Related Juvenile Myoclonic Epilepsy EFHC1 2082 100% Juvenile Myoclonic Epilepsy EFHC2 2432 100% . EFHD1 754 85% . EFHD2 739 93% . EFNA1 638 100% . EFNA2 658 78% . EFNA3 737 84% . EFNA4 801 91% . EFNA5 707 100% . EFNB1 1061 89% Craniofrontonasal Syndrome EFNB2 1022 100% . EFNB3 1043 98% . EFR3A 2560 99% . EFR3B 2592 89% . EFS 1710 100% . EFTUD1 3439 100% . EFTUD2 3027 100% . EGF 3720 100% . EGFL6 1713 100% . EGFL7 854 84% . EGFL8 990 95% . EGFLAM 3160 99% . EGFR 4149 99% Cancer EGFR 4149 99% Lung Cancer, EGFR‐Related EGLN1 1301 91% . EGLN2 1601 95% . EGLN3 740 100% . EGR1 1640 100% . EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 1 EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 1D UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:173

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 4 EGR2 1439 100% Charcot‐Marie‐Tooth Neuropathy Type 4E EGR3 1173 100% . EGR4 1469 99% . EHBP1 3792 99% . EHBP1L1 4648 92% . EHD1 1648 100% . EHD2 1652 100% . EHD3 1632 100% . EHD4 1650 100% . EHF 936 100% . EHHADH 2253 100% . EHMT1 4059 98% Kleefstra Syndrome EHMT2 4158 94% . EI24 1115 100% . EID1 1 0% . EID2 715 100% . EID2B 490 100% . EID3 1 0% . EIF1 358 100% . EIF1AD 518 100% . EIF1AX 463 96% . EIF1AY 463 94% . EIF1B 358 100% . EIF2A 1816 100% . EIF2AK1 1953 100% . EIF2AK2 1716 100% . EIF2AK3 3419 96% Multiple Epiphyseal Dysplasia with Early‐Onset Diabetes Mellitus EIF2AK4 5106 100% . EIF2B1 1141 100% Childhood Ataxia with Central Hypomyelination/Vanishing White Matter EIF2B1 1141 100% EIF2B1‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B2 1088 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:174

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EIF2B2 1088 100% EIF2B2‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B3 1440 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B3 1440 100% EIF2B3‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B4 1922 95% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B4 1922 95% EIF2B4‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B5 2234 98% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B5 2234 98% EIF2B5‐Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2C1 2650 100% . EIF2C2 2656 99% . EIF2C3 2663 100% . EIF2C4 2658 99% . EIF2D 1815 100% . EIF2S1 1095 100% . EIF2S2 1038 100% . EIF2S3 1541 100% . EIF3A 4237 100% . EIF3B 2531 86% . EIF3C 5647 9% . EIF3CL 5647 9% . EIF3D 1797 100% . EIF3E 1390 100% . EIF3F 1151 100% . EIF3G 1076 100% . EIF3H 1091 100% . EIF3I 1022 100% . EIF3J 809 99% . EIF3K 689 100% . EIF3L 1928 100% . EIF3M 1169 100% . EIF4A1 1409 100% . EIF4A2 1457 100% . EIF4A3 1284 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:175

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EIF4B 1911 100% . EIF4E 861 83% . EIF4E1B 758 99% . EIF4E2 803 99% . EIF4E3 703 73% . EIF4EBP1 369 61% . EIF4EBP2 375 100% . EIF4EBP3 315 66% . EIF4ENIF1 3033 100% . EIF4G1 4989 99% . EIF4G2 2894 100% . EIF4G3 5171 100% . EIF4H 775 100% . EIF5 1336 100% . EIF5A 575 100% . EIF5A2 478 100% . EIF5AL1 1 0% . EIF5B 3759 100% . EIF6 877 100% . ELAC1 1104 100% . ELAC2 2715 96% Prostate Cancer ELANE 824 99% ELANE 824 99% ELANE‐Related Neutropenia ELAVL1 1017 100% . ELAVL2 1116 100% . ELAVL3 1132 100% . ELAVL4 1249 100% . ELF1 1892 100% . ELF2 1876 100% . ELF3 1148 100% . ELF4 2024 100% . ELF5 826 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:176

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ELFN1 1 0% . ELFN2 2467 100% . ELK1 1307 90% . ELK3 1240 100% . ELK4 1450 100% . ELL 1914 94% . ELL2 2070 100% . ELL3 1301 100% . ELMO1 2337 100% . ELMO2 2267 100% . ELMO3 2402 100% . ELMOD1 1049 100% . ELMOD2 914 100% . ELMOD3 1498 100% . ELN 2514 100% ELN‐Related Cutis Laxa ELN 2514 100% Supravalvular Aortic Stenosis ELN 2514 100% ELOF1 264 100% . ELOVL1 868 100% . ELOVL2 923 99% . ELOVL3 829 100% . ELOVL4 969 100% Stargardt Disease 3 ELOVL5 1226 93% . ELOVL6 814 100% . ELOVL7 874 100% . ELP2 2768 93% . ELP3 1704 100% . ELP4 1344 100% . ELSPBP1 692 100% . ELTD1 2133 99% . EMB 1020 89% . EMCN 830 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:177

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EMD 789 97% EMD‐Related Emery‐Dreifuss Muscular Dystrophy, X‐Linked EMD 789 97% Emery‐Dreifuss Muscular Dystrophy EME1 1784 100% . EME2 1413 87% . EMG1 772 100% . EMID1 1394 80% . EMID2 1377 88% . EMILIN1 3098 93% . EMILIN2 3339 82% . EMILIN3 2317 93% . EML1 2597 97% . EML2 2031 99% . EML3 3031 99% . EML4 3189 100% . EML5 6097 98% . EML6 6041 100% . EMP1 490 100% . EMP2 520 100% . EMP3 508 100% . EMR1 2848 100% . EMR2 2638 99% . EMR3 2023 100% . EMX1 885 70% . EMX2 771 94% Familial EN1 1187 79% . EN2 1010 51% . ENAH 2520 95% . ENAM 3461 100% Amelogenesis Imperfecta, Type IB ENAM 3461 100% Amelogenesis Imperfecta, Type IB (319274) ENAM 3461 100% Amelogenesis Imperfecta, Type IC ENC1 1774 100% . ENDOD1 1511 88% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:178

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ENDOG 906 45% . ENDOU 1273 88% . ENDOV 1036 100% . ENG 2063 92% ENG‐Related Hereditary Hemorrhagic Telangiectasia ENG 2063 92% ENG‐Related Juvenile Polyposis ENG 2063 92% Hereditary Hemorrhagic Telangiectasia ENGASE 2288 96% . ENHO 235 100% . ENKUR 799 100% . ENO1 1349 100% . ENO2 1349 100% . ENO3 1349 100% Glycogen Storage Disease XIII ENO4 1934 96% . ENOPH1 810 100% . ENOSF1 1540 85% . ENOX1 1988 100% . ENOX2 1885 100% . ENPEP 2954 100% . ENPP1 2878 92% Arterial Calcification of Infancy ENPP1 2878 92% Hypophosphatemic Rickets, Autosomal Recessive 2 ENPP2 2931 100% . ENPP3 2833 100% . ENPP4 1374 100% . ENPP5 1446 100% . ENPP6 1355 100% . ENPP7 1397 100% . ENSA 627 98% . ENTHD1 1848 100% . ENTPD1 1703 100% . ENTPD2 1524 81% . ENTPD3 1630 100% . ENTPD4 1899 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:179

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ENTPD5 1339 100% . ENTPD6 1843 92% . ENTPD7 1863 100% . ENTPD8 1528 100% . ENY2 326 100% . EOMES 2142 81% . EP300 7369 100% EP300‐Related Rubinstein‐Taybi Syndrome EP300 7369 100% Rubinstein‐Taybi Syndrome EP400 9580 98% . EPAS1 2681 98% . EPB41 2692 100% . EPB41L1 2730 100% . EPB41L2 3198 100% . EPB41L3 3414 100% . EPB41L4A 2153 100% . EPB41L4B 3039 89% . EPB41L5 2483 100% . EPB42 2218 100% Spherocytosis, Type 5 EPB49 1277 98% . EPC1 2571 100% . EPC2 2480 100% . EPCAM 1209 84% EPCAM‐Related Hereditary Non‐Polyposis Colon Cancer EPDR1 1137 93% . EPG5 7920 100% . EPGN 445 100% . EPHA1 3003 95% . EPHA10 3133 82% . EPHA2 3004 95% . EPHA3 3046 100% . EPHA4 3038 100% . EPHA5 3193 98% . EPHA6 3635 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:180

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EPHA7 3073 100% . EPHA8 3259 97% . EPHB1 3019 100% . EPHB2 3035 98% . EPHB3 3061 96% . EPHB4 3032 97% . EPHB6 3290 100% . EPHX1 1400 100% . EPHX2 1807 98% . EPHX3 1111 92% . EPHX4 1117 100% . EPM2A 1054 73% EPM2A ‐Related Lafora Disease EPM2A 1054 73% Progressive Myoclonus Epilepsy, Lafora Type EPM2AIP1 1828 100% . EPN1 2112 88% . EPN2 1962 99% . EPN3 2116 99% . EPO 602 98% . EPOR 1559 86% . EPPK1 951 100% . EPRS 4741 100% . EPS15 2808 99% . EPS15L1 2687 99% . EPS8 2549 100% . EPS8L1 2401 90% . EPS8L2 2228 84% . EPS8L3 1857 98% . EPSTI1 1285 100% . EPT1 1346 100% . EPX 2196 100% . EPYC 993 100% . ERAL1 1457 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:181

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ERAP1 2931 100% . ERAP2 3101 100% . ERAS 706 95% . ERBB2 3876 98% . ERBB2IP 4486 97% . ERBB3 4494 99% . ERBB4 4039 100% . ERC1 3423 100% . ERC2 2922 100% . ERCC1 1059 98% ERCC1‐Related Xeroderma Pigmentosum ERCC1 1059 98% Xeroderma Pigmentosum ERCC2 2432 96% ERCC2‐Related Xeroderma Pigmentosum ERCC2 2432 96% Xeroderma Pigmentosum ERCC3 2617 99% ERCC3‐Related Xeroderma Pigmentosum ERCC3 2617 99% Xeroderma Pigmentosum ERCC4 2796 100% ERCC4‐Related Xeroderma Pigmentosum ERCC4 2796 100% Xeroderma Pigmentosum ERCC5 3670 100% ERCC5‐Related Xeroderma Pigmentosum ERCC5 3670 100% Xeroderma Pigmentosum ERCC6 4562 100% Age‐Related Macular Degeneration ERCC6 4562 100% Age‐Related Macular Degeneration 5 ERCC6 4562 100% ERCC6 4562 100% ERCC6‐Related Cockayne Syndrome ERCC6L 3761 100% . ERCC8 1279 100% Cockayne Syndrome ERCC8 1279 100% ERCC8‐Related Cockayne Syndrome EREG 530 100% . ERF 1663 100% . ERG 1590 93% . ERGIC1 1153 98% . ERGIC2 1214 100% . ERGIC3 1355 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:182

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ERH 331 100% . ERI1 1078 90% . ERI2 2502 99% . ERI3 1056 100% . ERICH1 1356 98% . ERLEC1 1508 100% . ERLIN1 1091 100% . ERLIN2 1103 100% . ERMAP 1468 100% . ERMN 915 100% . ERMP1 2775 94% . ERN1 3022 98% . ERN2 3013 97% . ERO1L 1483 97% . ERO1LB 1472 93% . ERP27 850 100% . ERP29 798 100% . ERP44 1269 100% . ERRFI1 1401 100% . ERV3‐1 1819 88% . ERVFRD‐1 1621 58% . ERVMER34‐110% . ERVV‐110% . ERVV‐210% . ESAM 1209 100% . ESCO1 2559 100% . ESCO2 1846 100% Roberts Syndrome ESD 881 100% . ESF1 2608 100% . ESM1 567 100% . ESPL1 6483 100% . ESPN 2617 74% DFNB36 Nonsyndromic Hearing Loss and Deafness UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:183

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ESPN 2617 74% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ESPNL 3054 79% . ESR1 1820 94% . ESR2 1755 100% . ESRP1 2131 99% . ESRP2 2214 100% . ESRRA 1296 100% . ESRRB 1572 100% DFNB35 Nonsyndromic Hearing Loss and Deafness ESRRB 1572 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ESRRG 1501 95% . ESX1 1237 97% . ESYT1 3469 100% . ESYT2 2800 86% . ESYT3 2775 98% . ETAA1 2805 98% . ETF1 1354 100% . ETFA 1050 96% Multiple Acyl‐CoA Dehydrogenase Deficiency ETFB 1122 100% Multiple Acyl‐CoA Dehydrogenase Deficiency ETFDH 1906 100% Multiple Acyl‐CoA Dehydrogenase Deficiency ETHE1 816 92% Ethylmalonic Encephalopathy ETNK1 1489 99% . ETNK2 1299 80% . ETS1 1584 100% . ETS2 1448 100% . ETV1 1552 100% . ETV2 1133 99% . ETV3 1587 100% . ETV3L 5 0% . ETV4 1503 95% . ETV5 1581 100% . ETV6 1391 100% . ETV7 1108 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:184

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EVC 3063 90% Ellis‐van Creveld Syndrome EVC 3063 90% EVC‐Related Ellis‐van Creveld Syndrome EVC 3063 90% Weyers Acrofacial Dysostosis EVC2 4015 94% Ellis‐van Creveld Syndrome EVC2 4015 94% EVC2‐Related Ellis‐van Creveld Syndrome EVI2A 788 100% . EVI2B 1351 100% . EVI5 2505 100% . EVI5L 2458 75% . EVL 1313 100% . EVPL 6190 98% . EVPLL 942 95% . 1236 96% . EVX2 1443 78% . EWSR1 2199 100% . EXD1 1669 100% . EXD2 1898 100% . EXD3 2715 95% . EXO1 2593 100% . EXOC1 2757 100% . EXOC2 2883 100% . EXOC3 2433 99% . EXOC3L1 2395 93% . EXOC3L2 1266 97% . EXOC3L4 2213 70% . EXOC4 3006 100% . EXOC5 2205 100% . EXOC6 2597 100% . EXOC6B 2590 100% . EXOC7 2395 97% . EXOC8 2182 100% . EXOG 1131 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:185

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EXOSC1 620 100% . EXOSC10 2758 100% . EXOSC2 918 100% . EXOSC3 844 100% . EXOSC4 750 93% . EXOSC5 732 97% . EXOSC6 823 23% . EXOSC7 908 98% . EXOSC8 875 99% . EXOSC9 1441 96% . EXPH5 5994 100% . EXT1 2285 100% Hereditary Multiple EXT1 2285 100% Hereditary Multiple , Type I EXT1 2285 100% Langer‐Giedion Syndrome EXT2 2352 100% Hereditary Multiple Osteochondromas EXT2 2352 100% Hereditary Multiple Osteochondromatosis, Type II EXTL1 2075 97% . EXTL2 1009 100% . EXTL3 2780 100% . EYA1 1875 100% Branchiootorenal Spectrum Disorders EYA1 1875 100% EYA1‐Related Branchiootorenal Spectrum Disorders EYA1 1875 100% Otofaciocervical Syndrome EYA2 1692 99% . EYA3 1790 100% . EYA4 2119 100% DFNA10 Nonsyndromic Hearing Loss and Deafness EYA4 2119 100% Dilated Cardiomyopathy EYA4 2119 100% EYA4‐Related Dilated Cardiomyopathy EYA4 2119 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant EYS 9744 68% EYS‐Related Retinitis Pigmentosa EYS 9744 68% Retinitis Pigmentosa, Autosomal Recessive EZH1 2329 99% . EZH2 2332 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:186

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

EZR 1813 100% . F10 1499 100% Factor X Deficiency F11 1939 100% Factor XI Deficiency F11R 940 100% . F12 1904 95% Factor XII Deficiency F12 1904 95% Hereditary Angioedema Type III F13A1 2323 100% Factor XIII Subunit A Deficiency F13B 2034 100% Factor XIII Subunit B Deficiency F2 1925 100% Prothrombin Deficiency F2 1925 100% Prothrombin‐Related Thrombophilia F2R 1286 98% . F2RL1 1202 100% . F2RL2 1133 100% . F2RL3 1166 98% . F3 912 99% . F5 6790 100% Budd‐Chiari Syndrome F5 6790 100% F5‐Related Budd‐Chiari Syndrome F5 6790 100% Factor V Cambridge Thrombophilia F5 6790 100% Factor V Deficiency F5 6790 100% Factor V Leiden Thrombophilia F5 6790 100% Factor V R2 Mutation Thrombophilia F7 1449 88% Factor VII Deficiency F8 7188 100% Hemophilia A F8A1 3360 6% . F8A2 3360 6% . F8A3 3360 6% . F9 1418 100% Hemophilia B FA2H 1147 82% Fatty Acid Hydroxylase‐Associated Neurodegeneration FAAH 1800 86% . FAAH2 1643 100% . FABP1 442 100% . FABP12 439 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:187

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FABP2 415 100% . FABP3 418 100% . FABP4 415 100% . FABP5 424 89% . FABP6 558 100% . FABP7 568 100% . FABP9 415 100% . FADD 635 100% . FADS1 1554 84% . FADS2 1383 100% . FADS3 1721 83% . FADS6 1199 99% . FAF1 2029 96% . FAF2 1382 98% . FAH 1316 100% Type I FAHD1 982 88% . FAHD2A 973 100% . FAHD2B 973 100% . FAIM 710 100% . FAIM2 999 98% . FAIM3 1205 83% . FAM100A 546 98% . FAM100B 507 74% . FAM101A 452 100% . FAM101B 443 100% . FAM102A 1199 94% . FAM102B 1127 100% . FAM103A1 365 100% . FAM104A 640 100% . FAM104B 504 94% . FAM105A 1103 94% . FAM105B 1104 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:188

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM107A 533 100% . FAM107B 941 100% . FAM108A1 1326 88% . FAM108B1 910 100% . FAM108C1 1002 74% . FAM109A 912 92% . FAM109B 784 100% . FAM110A 892 93% . FAM110B 1117 100% . FAM110C 974 85% . FAM110D 820 29% . FAM111A 1844 100% . FAM111B 2213 100% . FAM113A 1393 100% . FAM113B 1313 100% . FAM114A1 1744 100% . FAM114A2 1591 100% . FAM115A 2802 41% . FAM115C 3140 61% . FAM116A 1949 98% . FAM116B 1930 90% . FAM117A 1394 93% . FAM117B 1826 67% . FAM118A 1115 100% . FAM118B 1084 100% . FAM120A 3951 96% . FAM120AOS 1014 95% . FAM120B 2769 99% . FAM120C 3377 92% . FAM122A 868 100% . FAM122B 850 100% . FAM122C 822 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:189

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM123A 2020 92% . FAM123B 3412 100% Osteopathia Striata with Cranial Sclerosis FAM123C 2590 100% . FAM124A 1848 90% . FAM124B 1467 94% . FAM125A 858 100% . FAM125B 1004 84% . FAM126A 1618 100% Hypomyelination and Congenital Cataract FAM126B 1633 100% . FAM127A 346 100% . FAM127B 410 100% . FAM127C 346 100% . FAM129A 2844 98% . FAM129B 2317 97% . FAM129C 2433 87% . FAM131A 1357 100% . FAM131B 1111 96% . FAM131C 871 76% . FAM132A 941 67% . FAM133A 751 100% . FAM133B 788 100% . FAM134A 1668 83% . FAM134B 1569 93% Hereditary Sensory and Autonomic Neuropathy Type II FAM134B 1569 93% Hereditary Sensory and Autonomic Neuropathy Type IIB FAM134C 1437 100% . FAM135A 4774 100% . FAM135B 4297 100% . FAM136A 946 99% . FAM13A 3337 100% . FAM13B 2902 100% . FAM13C 2076 100% . FAM149A 1609 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:190

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM149B1 1814 98% . FAM150A 406 53% . FAM150B 479 47% . FAM151A 1790 100% . FAM151B 855 97% . FAM153A 1185 81% . FAM153B 1305 78% . FAM154A 1441 100% . FAM154B 1209 99% . FAM155A 1389 100% . FAM155B 1431 81% . FAM156A 1292 0% . FAM156B 1292 0% . FAM157A 1176 20% . FAM157B 6 0% . 647 100% . FAM159A 3 0% . FAM159B 495 100% . FAM160A1 3167 38% . FAM160A2 3005 100% . FAM160B1 2407 98% . FAM160B2 2547 98% . FAM161A 2179 100% . FAM161B 1980 100% . FAM162A 647 95% . FAM162B 505 77% . FAM163A 512 83% . FAM163B 509 22% . FAM164A 1014 98% . FAM164C 1379 100% . FAM165B 185 100% . FAM166A 1059 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:191

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM166B 852 99% . FAM167A 653 100% . FAM167B 500 97% . FAM168A 732 100% . FAM168B 608 86% . FAM169A 2061 100% . FAM169B 602 100% . FAM170A 1061 100% . FAM170B 860 100% . FAM171A1 2705 96% . FAM171A2 2513 58% . FAM171B 2513 100% . FAM172A 1384 100% . FAM173A 728 59% . FAM173B 746 100% . FAM174A 585 100% . FAM174B 492 80% . FAM175A 1266 100% . FAM175B 1284 100% . FAM176A 467 100% . FAM176B 506 92% . FAM177A1 731 95% . FAM177B 493 100% . FAM178A 4039 100% . FAM178B 2165 75% . FAM179A 3136 99% . FAM179B 5260 100% . FAM180A 534 100% . FAM180B 687 99% . FAM181A 1073 100% . FAM181B 1285 57% . FAM183A 469 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:192

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM184A 3510 98% . FAM184B 3255 90% . FAM185A 1211 98% . FAM186A 7088 11% . FAM186B 2710 100% . FAM187B 1118 100% . FAM188A 1399 100% . FAM188B 2583 100% . FAM189A1 1664 71% . FAM189A2 1660 100% . FAM189B 2188 89% . FAM18A 670 95% . FAM18B1 646 100% . FAM18B2 1039 100% . FAM18B2‐CDRT4 513 100% . FAM190A 2775 74% . FAM190B 3359 100% . FAM192A 789 100% . FAM193A 3755 100% . FAM193B 2501 88% . FAM194A 2048 100% . FAM194B 2143 100% . FAM195A 503 54% . FAM195B 310 6% . FAM196A 3 0% . FAM196B 1620 100% . FAM198A 1943 96% . FAM198B 1767 100% . FAM199X 1191 100% . FAM19A1 422 100% . FAM19A2 412 100% . FAM19A3 535 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:193

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM19A4 443 100% . FAM19A5 510 100% . FAM200A 1726 15% . FAM200B 1978 0% . FAM203A 2394 5% . FAM204A 730 100% . FAM205A 4024 97% . FAM206A 570 99% . FAM207A 717 71% . FAM208A 5169 76% . FAM208B 7365 100% . FAM209A 524 100% . FAM209B 524 100% . FAM20A 1695 95% . FAM20B 1258 100% . FAM20C 1795 36% . FAM210A 831 100% . FAM210B 591 68% . FAM211A 1051 75% . FAM211B 964 81% . FAM212A 872 95% . FAM212B 918 100% . FAM213A 388 99% . FAM213B 769 59% . FAM214A 3282 100% . FAM214B 1645 97% . FAM21A 4168 58% . FAM21B 7774 48% . FAM21C 4103 72% . FAM22A 2665 55% . FAM22D 1917 53% . FAM22F 2299 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:194

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM22G 2297 97% . FAM24A 326 100% . FAM24B 293 100% . FAM25A 301 100% . FAM25B 903 28% . FAM25C 903 28% . FAM25G 903 28% . FAM26D 391 100% . FAM26E 938 100% . FAM26F 956 45% . FAM32A 355 94% . FAM35A 2536 100% . FAM36A 373 88% . FAM3A 750 89% . FAM3B 828 97% . FAM3C 720 100% . FAM3D 787 100% . FAM40A 2598 93% . FAM40B 2632 94% . FAM43A 1276 72% . FAM43B 994 44% . FAM45A 1110 95% . FAM46A 1374 100% . FAM46B 1286 97% . FAM46C 1180 100% . FAM46D 1174 100% . FAM47A 2380 100% . FAM47B 1942 100% . FAM47C 3112 100% . FAM47E 1344 66% . FAM47E‐STBD1 1956 81% . FAM48A 2681 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:195

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM48B1 1 0% . FAM48B2 1 0% . FAM49A 1012 100% . FAM49B 1016 100% . FAM50A 1072 97% . FAM50B 982 100% . FAM53A 1213 93% . FAM53B 1285 100% . FAM53C 1195 100% . FAM54A 1186 100% . FAM54B 1002 100% . FAM55A 1561 100% . FAM55B 1704 100% . FAM55C 1700 100% . FAM55D 1655 100% . FAM57A 1118 59% . FAM57B 845 87% . FAM58A 967 95% Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations FAM58BP 1 0% . FAM59A 2655 99% . FAM59B 2822 69% . FAM5B 2380 100% . FAM5C 2329 100% . FAM60A 686 100% . FAM63A 1594 96% . FAM63B 1902 100% . FAM64A 798 100% . FAM65A 3843 98% . FAM65B 3305 100% . FAM65C 2925 95% . FAM69A 1308 100% . FAM69B 1316 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:196

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM69C 1276 75% . FAM70A 1090 98% . FAM70B 1236 94% . FAM71A 1789 100% . FAM71B 1826 100% . FAM71C 734 100% . FAM71D 6 0% . FAM71E1 760 100% . FAM71E2 2903 7% . FAM71F1 1065 100% . FAM71F2 950 100% . FAM72A 466 77% . FAM72B 466 100% . FAM72D 466 73% . FAM73A 2003 98% . FAM73B 2389 97% . FAM75A1 8204 31% . FAM75A2 8204 31% . FAM75A3 4060 56% . FAM75A4 4089 6% . FAM75A5 12209 10% . FAM75A6 4048 89% . FAM75A7 12209 10% . FAM75C1 4 0% . FAM75C2 4 0% . FAM75D1 4747 100% . FAM75D3 4 0% . FAM75D4 4 0% . FAM76A 1066 82% . FAM76B 1060 99% . FAM78A 860 100% . FAM78B 794 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:197

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM81A 1316 100% . FAM81B 1399 100% . FAM82A1 2465 100% . FAM82A2 1461 100% . FAM82B 985 100% . FAM83A 1396 97% . FAM83B 3052 100% . FAM83C 2260 98% . FAM83D 1864 86% . FAM83E 1457 97% . FAM83F 1523 72% . FAM83G 2496 100% . FAM83H 3556 82% Amelogenesis Imperfecta, Type III FAM84A 1238 98% . FAM84B 937 100% . FAM86A 1025 100% . FAM86B1 919 77% . FAM86B2 1167 61% . FAM86C1 675 94% . FAM89A 563 49% . FAM89B 588 50% . FAM8A1 1262 96% . FAM90A1 1411 100% . FAM90A10 1411 50% . FAM90A13 2826 14% . FAM90A14 2826 14% . FAM90A18 2822 0% . FAM90A19 2822 0% . FAM90A20 1411 92% . FAM90A5 1411 9% . FAM90A7 1744 2% . FAM90A8 1411 11% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:198

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FAM90A9 1411 20% . FAM91A1 2613 100% . FAM92A1 929 97% . FAM92B 941 100% . FAM96A 503 100% . FAM96B 514 100% . FAM98A 1642 100% . FAM98B 1430 72% . FAM98C 1082 78% . FAM9A 1031 100% . FAM9B 724 100% . FAM9C 525 100% . FAN1 3131 100% . FANCA 4545 94% FANCA‐Related Fanconi Anemia FANCA 4545 94% Fanconi Anemia FANCB 2612 100% FANCB‐Related Fanconi Anemia FANCB 2612 100% Fanconi Anemia FANCB 2612 100% VACTERL Association with , X‐linked FANCC 1734 100% FANCC‐Related Fanconi Anemia FANCC 1734 100% Fanconi Anemia FANCD2 4694 100% FANCD2‐Related Fanconi Anemia FANCD2 4694 100% Fanconi Anemia FANCE 1651 85% FANCE‐Related Fanconi Anemia FANCE 1651 85% Fanconi Anemia FANCF 1129 100% FANCF‐Related Fanconi Anemia FANCF 1129 100% Fanconi Anemia FANCG 1925 100% FANCG‐Related Fanconi Anemia FANCG 1925 100% Fanconi Anemia FANCI 4135 100% FANCI‐Related Fanconi Anemia FANCI 4135 100% Fanconi Anemia FANCL 1203 100% FANCL‐Related Fanconi Anemia FANCL 1203 100% Fanconi Anemia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:199

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FANCM 6239 100% FANCM‐Related Fanconi Anemia FANCM 6239 100% Fanconi Anemia FANK1 1086 100% . FAP 2387 100% . FAR1 1643 100% . FAR2 1592 100% . FARP1 3744 100% . FARP2 3466 100% . FARS2 1380 100% . FARSA 1579 95% . FARSB 1838 100% . FAS 1063 100% Autoimmune Lymphoproliferative Syndrome FAS 1063 100% FAS‐Related Autoimmune Lymphoproliferative Syndrome FASLG 862 100% Autoimmune Lymphoproliferative Syndrome FASLG 862 100% FASLG‐Related Autoimmune Lymphoproliferative Syndrome FASN 7704 95% . FASTK 1690 95% . FASTKD1 2627 100% . FASTKD2 2177 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) FASTKD3 2134 100% . FASTKD5 2299 100% . FAT1 13880 100% . FAT2 13142 100% . FAT3 13774 100% . FAT4 15073 100% . FATE1 572 81% . FAU 420 100% . FBF1 3567 100% . FBL 1002 100% . FBLIM1 1385 95% . FBLN1 2660 92% . FBLN2 3764 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:200

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FBLN5 1559 98% Age‐Related Macular Degeneration FBLN5 1559 98% Age‐Related Macular Degeneration 3 FBLN5 1559 98% FBLN5‐Related Cutis Laxa FBLN7 1386 96% . FBN1 8876 100% Ectopia Lentis, Isolated FBN1 8876 100% FBN1‐Related Thoracic Aortic Aneurysms and Aortic Dissections FBN1 8876 100% FBN1‐Related Weill‐Marchesani Syndrome FBN1 8876 100% FBN1 8876 100% MASS Syndrome FBN1 8876 100% Stiff Skin Syndrome FBN1 8876 100% Thoracic Aortic Aneurysms and Aortic Dissections FBN2 9049 100% Congenital Contractural FBN3 8682 96% . FBP1 1045 99% Fructose 1,6 Bisphosphatase Deficiency FBP2 1048 100% . FBRS 1630 99% . FBRSL1 3206 17% . FBXL12 993 92% . FBXL13 2283 100% . FBXL14 1265 100% . FBXL15 1002 93% . FBXL16 1460 83% . FBXL17 1116 100% . FBXL18 2177 99% . FBXL19 2129 95% . FBXL2 1351 100% . FBXL20 1371 100% . FBXL21 1321 100% . FBXL22 734 99% . FBXL3 1303 100% . FBXL4 1894 100% . FBXL5 2120 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:201

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FBXL6 1656 96% . FBXL7 1493 100% . FBXL8 1133 70% . FBXO10 2911 100% . FBXO11 2966 96% . FBXO15 1573 85% . FBXO16 911 100% . FBXO17 875 69% . FBXO18 3378 100% . FBXO2 915 74% . FBXO21 1935 97% . FBXO22 1277 96% . FBXO24 1940 96% . FBXO25 1144 100% . FBXO27 872 91% . FBXO28 1127 94% . FBXO3 1469 99% . FBXO30 2246 100% . FBXO31 1656 93% . FBXO32 1104 100% . FBXO33 1684 87% . FBXO34 2140 100% . FBXO36 583 100% . FBXO38 3651 100% . FBXO39 1341 100% . FBXO4 1218 84% . FBXO40 2142 100% . FBXO41 2766 76% . FBXO42 2208 100% . FBXO43 2147 100% . FBXO44 820 100% . FBXO45 873 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:202

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FBXO46 1816 99% . FBXO47 1399 100% . FBXO48 476 100% . FBXO5 1364 93% . FBXO6 902 100% . FBXO7 1646 92% . FBXO8 980 100% . FBXO9 1409 100% . FBXW10 3298 99% . FBXW11 1744 99% . FBXW12 1488 100% . FBXW2 1389 100% . FBXW4 1279 90% FBXW4 1279 90% Split‐Hand/Foot Malformation 3 FBXW5 1794 90% . FBXW7 2584 100% . FBXW8 1841 83% . FBXW9 1507 94% . FCAMR 1885 100% . FCAR 955 100% . FCER1A 803 100% . FCER1G 281 100% . FCER2 1029 99% . FCF1 629 100% . FCGBP 16365 76% . FCGR1A 1149 97% . FCGR1B 872 92% . FCGR2A 982 100% . FCGR2B 965 79% . FCGR2C 1000 80% . FCGR3A 893 100% . FCGR3B 830 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:203

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FCGRT 1122 93% . FCHO1 2774 99% . FCHO2 2539 97% . FCHSD1 2156 99% . FCHSD2 2314 100% . FCN1 1017 100% . FCN2 1037 100% . FCN3 940 100% . FCRL1 1400 100% . FCRL2 1770 100% . FCRL3 2261 100% . FCRL4 1775 100% . FCRL5 3201 100% . FCRL6 1350 100% . FCRLA 1173 100% . FCRLB 1305 93% . FDCSP 270 100% . FDFT1 1286 100% . FDPS 1300 100% . FDX1 571 67% . FDX1L 604 98% . FDXACB1 1895 100% . FDXR 1747 95% . FECH 1334 95% Erythropoietic Protoporphyria FEM1A 2014 83% . FEM1B 1892 100% . FEM1C 1862 100% . FEN1 1147 100% . FER 2541 100% . FER1L5 6490 47% . FER1L6 5734 100% . FERD3L 505 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:204

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FERMT1 2090 100% FERMT2 2136 100% . FERMT3 2060 100% . FES 2595 98% . FETUB 1181 100% . FEV 729 69% . FEZ1 1333 100% . FEZ2 1200 78% . FEZF1 1444 100% . FEZF2 1396 99% . FFAR1 907 75% . FFAR2 997 100% . FFAR3 1045 99% . FGA 2679 99% Congenital Afibrinogenemia FGA 2679 99% Familial Visceral Amyloidosis FGA 2679 99% FGA‐Related Congenital Afibrinogenemia FGA 2679 99% FGA‐Related Familial Visceral Amyloidosis FGB 1508 100% Congenital Afibrinogenemia FGB 1508 100% FGB‐Related Congenital Afibrinogenemia FGD1 2958 89% Aarskog Syndrome FGD1 2958 89% FGD1‐Related X‐linked Mental Retardation FGD2 2847 100% . FGD3 2362 100% . FGD4 2537 100% Charcot‐Marie‐Tooth Neuropathy Type 4 FGD4 2537 100% Charcot‐Marie‐Tooth Neuropathy Type 4H FGD5 4469 96% . FGD6 4377 100% . FGF1 482 100% . FGF10 639 100% FGF10‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGF10 639 100% Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGF11 698 89% . FGF12 772 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:205

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FGF13 1016 100% . FGF14 976 100% Spinocerebellar Ataxia Type27 FGF16 359 100% . FGF17 671 100% . FGF18 644 100% . FGF19 663 64% . FGF2 879 67% . FGF20 648 73% . FGF21 642 100% . FGF22 525 58% . FGF23 768 100% FGF23‐Related Familial Hyperphosphatemic Tumoral Calcinosis FGF23 768 100% Hypophosphatemic Rickets, Dominant FGF3 732 70% Congenital Deafness with Inner Agenesis, Microtia, and FGF4 633 55% . FGF5 932 100% . FGF6 639 100% . FGF7 597 100% . FGF8 759 79% Kallmann Syndrome FGF8 759 79% Kallmann Syndrome 6 FGF9 639 100% . FGFBP1 709 100% . FGFBP2 676 100% . FGFBP3 781 58% . FGFR1 2874 98% FGFR1‐Related FGFR1 2874 98% FGFR‐Related Craniosynostosis FGFR1 2874 98% Kallmann Syndrome FGFR1 2874 98% Kallmann Syndrome 2 FGFR1 2874 98% Osteoglophonic Dysplasia FGFR1 2874 98% Type 1, 2 and 3 FGFR1OP 1252 92% . FGFR1OP2 786 100% . FGFR2 2754 100% UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:206

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FGFR2 2754 100% Beare‐Stevenson Syndrome FGFR2 2754 100% FGFR2 2754 100% FGFR2‐Related Craniosynostosis FGFR2 2754 100% FGFR2‐Related Isolated Coronal FGFR2 2754 100% FGFR2‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGFR2 2754 100% FGFR‐Related Craniosynostosis FGFR2 2754 100% Jackson‐Weiss Syndrome FGFR2 2754 100% Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGFR3 2887 82% FGFR3 2887 82% Crouzon Syndrome with FGFR3 2887 82% FGFR3‐Related Craniosynostosis FGFR3 2887 82% FGFR3‐Related Isolated Coronal Synostosis FGFR3 2887 82% FGFR3‐Related Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGFR3 2887 82% FGFR‐Related Craniosynostosis FGFR3 2887 82% FGFR3 2887 82% Lacrimo‐Auriculo‐Dento‐Digital Syndrome FGFR3 2887 82% FGFR3 2887 82% Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) FGFR3 2887 82% FGFR3 2887 82% Thanatophoric Dysplasia Type I FGFR3 2887 82% Thanatophoric Dysplasia Type II FGFR4 3325 99% . FGFRL1 1539 96% . FGG 1487 100% Congenital Afibrinogenemia FGG 1487 100% FGG‐Related Congenital Afibrinogenemia FGGY 1792 100% . FGL1 967 100% . FGL2 1328 100% . FGR 1634 100% . FH 1573 91% Fumarate Hydratase Deficiency FH 1573 91% Hereditary Leiomyomatosis and Renal Cell Cancer FH 1573 91% Multiple Cutaneous and Uterine Leiomyomas UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:207

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FHAD1 4408 99% . FHDC1 3476 100% . FHIT 464 100% . FHL1 1120 100% Childhood‐Onset Reducing Body Myopathy, X‐Linked FHL1 1120 100% Early‐Onset Severe Reducing Body Myopathy, X‐Linked FHL1 1120 100% Emery‐Dreifuss Muscular Dystrophy FHL1 1120 100% Familial Hemophagocytic Lymphohistiocytosis FHL1 1120 100% Familial Hemophagocytic Lymphohistiocytosis 1 FHL1 1120 100% FHL1‐Related Emery‐Dreifuss Muscular Dystrophy, X‐Linked FHL1 1120 100% Myopathy with Postural Muscle Atrophy, X‐Linked FHL1 1120 100% Scapuloperoneal Myopathy, X‐Linked Dominant FHL2 884 100% . FHL3 863 100% . FHL5 875 100% . FHOD1 3583 100% . FHOD3 4420 97% . FIBCD1 1530 84% . FIBIN 640 100% . FIBP 1331 97% . FICD 1385 100% . FIG4 2816 99% Charcot‐Marie‐Tooth Neuropathy Type 4 FIG4 2816 99% Charcot‐Marie‐Tooth Neuropathy Type 4J FIG4 2816 99% FIG4‐Related Amyotrophic Lateral Sclerosis FIGF 1093 100% . FIGLA 680 68% . FIGN 2288 100% . FIGNL1 2029 100% . FIGNL2 1 0% . FILIP1 3662 100% . FILIP1L 3449 100% . FIP1L1 1905 98% . FIS1 686 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:208

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FITM1 887 100% . FITM2 797 99% . FIZ1 1499 63% . FJX1 1318 61% . FKBP10 1789 99% FKBP10‐Related Osteogenesis Imperfecta FKBP11 687 99% . FKBP14 652 100% . FKBP15 3883 100% . FKBP1A 366 69% . FKBP1B 388 89% . FKBP2 449 100% . FKBP3 703 100% . FKBP4 1420 100% . FKBP5 1472 100% . FKBP6 1103 99% . FKBP7 688 100% . FKBP8 1274 100% . FKBP9 1754 96% . FKBPL 1057 100% . FKRP 1492 70% FKRP‐Related Muscle Diseases FKRP 1492 70% FKRP‐Related Walker‐Warburg Syndrome FKRP 1492 70% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive FKRP 1492 70% Limb‐Girdle Muscular Dystrophy Type 2I FKRP 1492 70% Walker‐Warburg Syndrome FKTN 1423 100% Dilated Cardiomyopathy FKTN 1423 100% FKTN‐Related Dilated Cardiomyopathy FKTN 1423 100% FKTN‐Related Muscle Diseases FKTN 1423 100% Fukuyama Congenital Muscular Dystrophy FKTN 1423 100% Limb‐Girdle Muscular Dystrophy Type 2M FKTN 1423 100% Walker‐Warburg Syndrome FLAD1 1943 100% . FLCN 2140 100% Birt‐Hogg‐Dube Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:209

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FLCN 2140 100% Spontaneous Pneumothorax FLG 12194 99% FLG2 7184 100% . FLI1 1395 100% . FLII 3931 97% . FLJ22184 1866 24% . FLJ23152 5 0% . FLJ25363 5 0% . FLJ27352 2 0% . FLJ42280 403 100% . FLJ43860 660 93% . FLJ44635 2 0% . FLJ45513 2 0% . FLNA 8149 100% FLNA‐Related Disorders FLNA 8149 100% FLNA‐Related X‐linked Cardiac Valvular Dysplasia FLNA 8149 100% Otopalatodigital Spectrum Disorders FLNA 8149 100% Otopalatodigital Syndrome, Type I FLNA 8149 100% Otopalatodigital Syndrome, Type II FLNA 8149 100% Periventricular Heterotopia, X‐Linked FLNB 8090 99% Atelosteogenesis Type I FLNB 8090 99% Atelosteogenesis Type III FLNB 8090 99% Boomerang Dysplasia FLNB 8090 99% FLNB‐Related Disorders FLNB 8090 99% Larsen Syndrome FLNB 8090 99% Spondylocarpotarsal Synostosis Syndrome FLNC 8370 99% Filaminopathy FLNC 8370 99% Myofibrillar Myopathy FLOT1 1550 95% . FLOT2 1331 100% . FLRT1 2029 100% . FLRT2 1987 100% . FLRT3 1954 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:210

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FLT1 4139 99% . FLT3 3089 98% . FLT3LG 736 99% . FLT4 4390 97% Milroy Disease FLVCR1 1708 90% . FLVCR2 1622 100% Proliferative Vasculopathy And ‐Hydrocephaly Syndrome FLYWCH1 2775 97% . FLYWCH2 431 100% . FMN1 3659 100% . FMN2 5675 90% . FMNL1 3407 86% . FMNL2 3383 100% . FMNL3 3188 100% . FMO1 1631 100% . FMO2 1448 100% . FMO3 1631 100% FMO4 1709 100% . FMO5 1808 92% . FMOD 1139 100% . FMR1 2198 87% FMR1‐Related Disorders FMR1 2198 87% FMR1 2198 87% Fragile X‐Associated Tremor/Ataxia Syndrome FMR1NB 788 100% . FN1 7651 100% . FN3K 954 89% . FN3KRP 954 100% . FNBP1 1949 99% . FNBP1L 1904 100% . FNBP4 3122 97% . FNDC1 5777 97% . FNDC3A 3708 100% . FNDC3B 3715 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:211

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FNDC4 729 100% . FNDC5 459 100% . FNDC7 2316 93% . FNDC8 991 100% . FNDC9 679 100% . FNIP1 3581 100% . FNIP2 3413 98% . FNTA 1176 86% . FNTB 1362 100% . FOLH1 2498 96% . FOLH1B 1377 100% . FOLR1 790 100% Neurodegeneration due to Cerebral Folate Transport Deficiency FOLR2 808 100% . FOLR3 880 100% . FOLR4 769 100% . FOPNL 545 100% . FOS 1159 100% . FOSB 1033 95% . FOSL1 832 88% . FOSL2 1048 97% . FOXA1 1427 91% . FOXA2 1400 95% . FOXA3 1061 95% . FOXB1 982 99% . FOXB2 1303 93% . FOXC1 1666 64% Axenfeld‐Rieger Syndrome FOXC1 1666 64% Peters Anomaly FOXC2 1510 75% Hereditary Lymphedema II FOXC2 1510 75% Lymphedema‐Distichiasis Syndrome FOXD1 1 0% . FOXD2 1492 51% . FOXD3 1441 63% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:212

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FOXD4 1324 100% . FOXD4L1 1231 100% . FOXD4L2 2510 0% . FOXD4L3 1258 72% . FOXD4L4 2510 0% . FOXD4L5 1255 82% . FOXD4L6 1258 43% . FOXE1 1126 67% Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate FOXE1 1126 67% Bamforth‐Lazarus Syndrome FOXE1 1126 67% Cleft Lip +/‐ Cleft Palate FOXE3 964 47% Anterior Segment Mesenchymal Dysgenesis FOXE3 964 47% Cataracts, Autosomal Dominant FOXE3 964 47% Peters Anomaly with Cataract FOXF1 1148 97% Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins FOXF2 1343 75% . FOXG1 1474 84% , Congenital Variant FOXH1 1191 93% . FOXI1 1145 100% . FOXI2 965 76% . FOXI3 2 0% . FOXJ1 1274 89% . FOXJ2 1809 100% . FOXJ3 1980 100% . FOXK1 2238 85% . FOXK2 2019 96% . FOXL1 1042 83% . FOXL2 1135 79% Blepharophimosis, Ptosis, and Epicanthus Inversus FOXM1 2442 100% . FOXN1 1979 100% Alopecia and T‐Cell Immunodeficiency FOXN2 1316 100% . FOXN3 1497 100% . FOXN4 1649 82% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:213

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FOXO1 1976 80% . FOXO3 2030 94% . FOXO4 1530 99% . FOXP1 2515 98% . FOXP2 2401 100% Speech‐Language Disorder 1 FOXP3 1516 83% IPEX Syndrome FOXP4 2107 97% . FOXQ1 1216 47% . FOXR1 903 93% . FOXR2 940 100% . FOXRED1 1505 100% . FOXRED2 2087 97% . FOXS1 997 100% . FPGS 1824 88% . FPGT 1801 100% . FPGT‐TNNI3K 3050 100% . FPR1 1057 100% . FPR2 1060 100% . FPR3 1066 100% . FRA10AC1 1000 100% . FRAS1 12433 100% FRAS1‐Related FRAT1 844 40% . FRAT2 706 40% . FREM1 6743 100% . FREM2 9627 100% FREM2‐Related Fraser Syndrome FREM3 6452 98% . FRG1 813 100% . FRG2 860 10% . FRG2B 856 89% . FRG2C 869 0% . FRK 1550 100% . FRMD1 1707 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:214

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FRMD3 2057 100% . FRMD4A 3400 98% . FRMD4B 3202 100% . FRMD5 1981 84% . FRMD6 1921 100% . FRMD7 2193 100% FRMD7‐Related Infantile Nystagmus FRMD8 1435 97% . FRMPD1 4797 100% . FRMPD2 4087 97% . FRMPD4 5377 100% . FRRS1 1969 100% . FRS2 1547 100% . FRS3 1522 94% . FRY 9337 100% . FRYL 9434 100% . FRZB 1002 100% . FSBP 908 100% . FSCB 2482 95% . FSCN1 1520 97% . FSCN2 1571 84% FSCN2‐Related Retinitis Pigmentosa FSCN2 1571 84% Retinitis Pigmentosa, Autosomal Dominant FSCN3 1521 100% . FSD1 1543 99% . FSD1L 1742 100% . FSD2 2298 99% . FSHB 398 100% Isolated Follicle Stimulating Hormone Deficiency FSHB 398 100% Isolated Follicle‐Stimulating Hormone Deficiency FSHR 2128 100% Ovarian Dysgenesis 1 FSHR 2128 100% Ovarian Hyperstimulation Syndrome FSIP1 1790 100% . FSIP2 20863 100% . FST 1065 92% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:215

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FSTL1 967 100% . FSTL3 812 57% . FSTL4 2716 100% . FSTL5 2604 100% . FTCD 1885 76% Formiminotransferase Deficiency FTH1 568 100% . FTHL17 556 100% . FTL 544 100% Hyperferritinemia Cataract Syndrome FTL 544 100% Neuroferritinopathy FTMT 733 100% . FTO 1554 97% Growth Retardation, Developmental Delay, Coarse Facies, and Early Death FTSJ1 1034 100% X‐Linked Mental Retardation 9 FTSJ2 753 99% . FTSJ3 2624 100% . FTSJD1 2317 100% . FTSJD2 2602 100% . FUBP1 2018 100% . FUBP3 1795 98% . FUCA1 1433 96% Fucosidosis FUCA2 1462 100% . FUK 3553 91% . FUNDC1 488 96% . FUNDC2 590 99% . FURIN 2445 96% . FUS 1644 100% Amyotrophic Lateral Sclerosis FUS 1644 100% FUS‐Related Amyotrophic Laterial Sclerosis FUT1 1102 100% . FUT10 1560 100% . FUT11 1491 96% . FUT2 1036 100% . FUT3 1090 100% . FUT4 1597 75% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:216

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FUT5 1129 100% . FUT6 1084 100% . FUT7 1037 82% . FUT8 1764 100% . FUT9 1084 100% . FUZ 1521 75% . FXC1 324 100% . FXN 662 74% Friedreich Ataxia FXR1 2021 100% . FXR2 2090 98% . FXYD1 303 100% . FXYD2 539 83% Hypomagnesemia 2, Renal FXYD3 638 88% . FXYD4 298 100% . FXYD5 648 100% . FXYD6 312 85% . FXYD6‐FXYD2 799 86% . FXYD7 666 73% . FYB 2590 100% . FYCO1 4505 100% . FYN 1818 100% . FYTTD1 1022 100% . FZD1 1948 92% . FZD10 1750 100% . FZD2 1702 100% . FZD3 2025 100% . FZD4 1622 100% Familial Exudative Vitreoretinopathy FZD4 1622 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant FZD5 1762 100% . FZD6 2145 100% . FZD7 1729 100% . FZD8 2089 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:217

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

FZD9 1780 94% . FZR1 1543 90% . G0S2 316 99% . G2E3 2177 100% . G3BP1 1445 100% . G3BP2 1493 100% . G6PC 1100 100% Glycogen Storage Disease Type I G6PC 1100 100% Glycogen Storage Disease Type Ia G6PC2 1088 100% . G6PC3 1065 99% Severe Congenital Neutropenia, Autosomal Recessive, 4 G6PD 1831 95% Glucose‐6‐ Dehydrogenase Deficiency GAA 2935 100% Glycogen Storage Disease Type II (Pompe Disease) GAB1 2242 100% . GAB2 2071 100% . GAB3 1804 96% . GAB4 1765 100% . GABARAP 370 100% . GABARAPL1 523 100% . GABARAPL2 370 100% . GABBR1 3973 78% . GABBR2 2902 96% . GABPA 1401 100% . GABPB1 1268 100% . GABPB2 1383 100% . GABRA1 1407 100% GABRA1‐Related Juvenile Myoclonic Epilepsy GABRA1 1407 100% Juvenile Myoclonic Epilepsy GABRA2 1445 100% . GABRA3 1515 100% . GABRA4 1701 100% . GABRA5 1449 100% . GABRA6 1398 100% . GABRB1 1461 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:218

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GABRB2 1579 100% . GABRB3 1543 95% . GABRD 1395 94% GABRD‐Related Generalized Epilepsy with Febrile Seizures Plus GABRD 1395 94% GABRD‐Related Juvenile Myoclonic Epilepsy GABRD 1395 94% Juvenile Myoclonic Epilepsy GABRE 1557 98% . GABRG1 1434 100% . GABRG2 1592 92% Epilepsy, Childhood Absence, 2 GABRG2 1592 92% GABRG2‐Related Generalized Epilepsy with Febrile Seizures Plus GABRG3 1444 96% . GABRP 1359 100% . GABRQ 1935 100% . GABRR1 1480 100% . GABRR2 1509 100% . GABRR3 1440 100% . GAD1 1890 100% . GAD2 1874 100% . GADD45A 514 100% . GADD45B 499 100% . GADD45G 496 93% . GADD45GIP1 677 93% . GADL1 1640 100% . GAGE1 467 53% . GAGE10 367 100% . GAGE12B 1110 4% . GAGE12C 2220 5% . GAGE12D 2220 5% . GAGE12E 2220 5% . GAGE12F 1129 14% . GAGE12G 1850 3% . GAGE12H 1480 8% . GAGE12I 1113 6% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:219

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GAGE12J 370 24% . GAGE13 373 35% . GAGE2A 1468 34% . GAGE2B 367 39% . GAGE2C 1507 42% . GAGE2D 1140 43% . GAGE2E 1474 36% . GAGE4 373 18% . GAGE5 373 18% . GAGE6 740 0% . GAGE7 373 18% . GAGE8 1474 36% . GAK 4251 99% . GAL 392 95% . GAL3ST1 1283 100% . GAL3ST2 1213 76% . GAL3ST3 1304 68% . GAL3ST4 1591 93% . GALC 2310 92% Krabbe Disease GALE 1087 100% Epimerase Deficiency Galactosemia GALK1 1301 93% Deficiency GALK2 1441 99% . GALM 1090 100% . GALNS 1625 90% Mucopolysaccharidosis Type IVA GALNT1 1724 100% . GALNT10 1979 92% . GALNT11 1895 100% . GALNT12 1786 82% . GALNT13 1715 100% . GALNT14 1912 100% . GALNT2 1780 93% . GALNT3 1942 100% Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3‐Related UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:220

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GALNT4 865 100% . GALNT5 2863 100% . GALNT6 1909 100% . GALNT7 2073 100% . GALNT8 1958 100% . GALNT9 2201 82% . GALNTL1 1827 100% . GALNTL2 1991 100% . GALNTL4 1868 100% . GALNTL5 1364 100% . GALNTL6 1903 100% . GALP 371 100% . GALR1 1062 98% . GALR2 1172 91% . GALR3 1115 63% . GALT 1241 100% Galactosemia GAMT 975 75% Deficiency Syndromes GAMT 975 75% Guanidinoacetate Methyltransferase Deficiency GAN 1838 94% GANAB 3001 100% . GANC 2841 100% . GAP43 871 100% . GAPDH 1040 100% . GAPDHS 1271 100% . GAPT 478 100% . GAPVD1 4675 100% . GAR1 783 100% . GARNL3 3154 100% . GARS 2288 96% Charcot‐Marie‐Tooth Neuropathy Type 2 GARS 2288 96% Charcot‐Marie‐Tooth Neuropathy Type 2D/Distal Spinal Muscular Atrophy V GART 3125 100% . GAS1 1042 43% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:221

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GAS2 975 100% . GAS2L1 2069 96% . GAS2L2 2667 100% . GAS2L3 2117 100% . GAS6 2226 86% . GAS7 1545 100% . GAS8 1481 99% . GAST 314 100% . GATA1 1366 100% GATA1‐Related Cytopenia GATA2 1463 99% . GATA3 1355 92% Hypoparathyroidism, Sensorineural Deafness, and Renal Disease GATA4 1353 64% Isolated Nonsyndromic Congenital Heart Disease/Defects GATA5 1218 57% . GATA6 1812 66% . GATAD1 830 70% . GATAD2A 1955 100% . GATAD2B 1822 100% . GATC 427 100% . GATM 1467 84% Creatine Deficiency Syndromes GATM 1467 84% L‐:Glycine Amidinotransferase Deficiency GATS 556 100% . GATSL1 9 0% . GATSL2 1026 7% . GATSL3 1103 93% . GBA 1655 100% Gaucher Disease GBA2 3038 100% . GBA3 1388 100% . GBAS 902 89% . GBE1 2174 100% Adult Polyglucosan Body Disease GBE1 2174 100% GBE1‐Related Disorders GBE1 2174 100% Glycogen Storage Disease Type IV GBF1 5736 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:222

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GBGT1 1105 100% . GBP1 1819 100% . GBP2 1816 100% . GBP3 1847 94% . GBP4 1967 100% . GBP5 1801 100% . GBP6 1945 100% . GBP7 1957 100% . GBX1 1100 79% . GBX2 1057 99% . GC 1534 98% . GCA 686 100% . GCAT 1560 90% . GCC1 2336 100% . GCC2 5156 100% . GCDH 1409 100% Glutaricacidemia Type 1 GCET2 570 100% . GCFC1 2970 95% . GCFC2 2414 94% . GCG 568 100% . GCGR 1486 11% . GCH1 877 93% Dopa‐Responsive Dystonia GCH1 877 93% GTP Cyclohydrolase 1 Deficiency (GTPCH) GCH1 877 93% GTP Cyclohydrolase 1‐Deficient Dopa‐Responsive Dystonia GCH1 877 93% GTP Cyclohydrolase 1‐Related Disorders GCHFR 267 90% . GCK 1536 99% Familial Hyperinsulinism GCK 1536 99% GCK‐Related Hyperinsulinism GCK 1536 99% GCK‐Related Permanent Neonatal Diabetes Mellitus GCK 1536 99% Maturity‐Onset Diabetes of the Young Type 2 GCK 1536 99% Permanent Neonatal Diabetes Mellitus GCKR 1954 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:223

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GCLC 2068 100% . GCLM 853 85% . GCM1 1331 100% . GCM2 1541 100% Familial Isolated Hypoparathyroidism GCM2 1541 100% GCM2‐Related Familial Isolated Hypoparathyroidism GCN1L1 8248 100% . GCNT1 1291 100% . GCNT2 3073 100% . GCNT3 1321 100% . GCNT4 1366 100% . GCNT7 939 100% . GCOM1 1709 95% . GCSH 542 72% GCSH‐Related Glycine Encephalopathy GCSH 542 72% Glycine Encephalopathy GDA 1480 100% . GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 2 GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 2H/2K GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 4 GDAP1 1101 100% Charcot‐Marie‐Tooth Neuropathy Type 4A GDAP1L1 1283 97% . GDAP2 1591 100% . GDE1 1020 99% . GDF1 1127 32% . GDF10 1449 99% . GDF11 1236 92% . GDF15 935 100% . GDF2 1298 100% . GDF3 1103 100% . GDF5 1642 100% Acromesomelic Dysplasia, Hunter‐Thompson Type GDF5 1642 100% Brachydactyly Type A2 GDF5 1642 100% Brachydactyly Type C GDF5 1642 100% Chondrodysplasia, Grebe Type UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:224

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GDF5 1642 100% Fibular Hypoplasia and Complex Brachydactyly GDF6 1376 90% Klippel‐Feil Syndrome GDF7 1361 60% . GDF9 1373 100% . GDI1 1435 100% X‐Linked Mental Retardation 41 GDI2 1382 99% . GDNF 699 100% GDNF‐Related Hirschsprung Disease GDNF 699 100% Hirschsprung Disease GDPD1 1068 100% . GDPD2 1837 91% . GDPD3 1002 100% . GDPD4 1623 100% . GDPD5 1878 99% . GEM 907 100% . GEMIN2 883 100% . GEMIN4 3185 100% . GEMIN5 4639 100% . GEMIN6 512 100% . GEMIN7 400 100% . GEMIN8 741 100% . GEN1 2779 100% . GET4 1020 86% . GFAP 1610 99% GFER 666 63% Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay GFI1 1293 87% . GFI1B 1017 100% . GFM1 2421 99% Combined Oxidative Deficiency GFM1 2421 99% Combined Oxidative Phosphorylation Deficiency 1 GFM2 2452 100% . GFOD1 1182 100% . GFOD2 1166 100% . GFPT1 2180 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:225

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GFPT2 2125 99% . GFRA1 1438 96% . GFRA2 1431 68% . GFRA3 1235 99% . GFRA4 920 28% . GFRAL 1221 100% . GGA1 2054 96% . GGA2 1910 95% . GGA3 2241 97% . GGCT 847 100% . GGCX 2340 99% Vitamin K‐Dependent Clotting Factors, Combined Deficiency of, 1 GGH 993 99% . GGN 1967 95% . GGNBP2 2168 98% . GGPS1 915 100% . GGT1 1861 100% . GGT5 1812 94% . GGT6 1516 87% . GGT7 2394 94% . GGTLC1 734 100% . GGTLC2 775 99% . GH1 976 100% Isolated Growth Hormone Deficiency, Type IA GH1 976 100% Isolated Growth Hormone Deficiency, Type II GH2 1011 100% . GHDC 1714 98% . GHITM 1079 100% . GHR 1954 100% Pituitary II GHRH 343 100% . GHRHR 1442 89% Isolated Growth Hormone Deficiency, Type IB GHRL 477 100% . GHSR 1183 100% Partial Isolated Growth Hormone Deficiency GIF 1290 100% Intrinsic Factor Deficiency UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:226

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GIGYF1 3204 99% . GIGYF2 4078 98% . GIMAP1 929 98% . GIMAP1‐GIMAP5 1977 94% . GIMAP2 1022 100% . GIMAP4 1045 100% . GIMAP5 938 100% . GIMAP6 1155 100% . GIMAP7 907 100% . GIMAP8 2014 100% . GIN1 1597 100% . GINS1 619 100% . GINS2 578 87% . GINS3 784 85% . GINS4 700 100% . GIP 482 99% . GIPC1 1026 93% . GIPC2 972 97% . GIPC3 963 76% . GIPR 1453 96% . GIT1 2480 98% . GIT2 2389 98% . GJA1 1153 100% Hypoplastic Left Heart Syndrome GJA1 1153 100% Oculodentodigital Dysplasia GJA1 1153 100% Syndactyly, Type III GJA10 1636 100% . GJA3 1312 87% Zonular Pulverulent Cataract 3 GJA4 1006 100% . GJA5 1081 100% Familial Atrial Fibrillation GJA8 1306 100% Zonular Pulverulent Cataract 1 GJA9 1552 100% . GJB1 856 100% Charcot‐Marie‐Tooth Neuropathy X UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:227

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GJB1 856 100% Charcot‐Marie‐Tooth Neuropathy X Type 1 GJB2 685 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% GJB2‐Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% GJB2‐Related DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% Ichthyosis, Hystrix‐like, with Deafness GJB2 685 100% Keratitis‐Ichthyosis‐Deafness Syndrome, Autosomal Dominant GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive GJB2 685 100% Vohwinkel Syndrome GJB3 817 100% DFNA 2B Nonsyndromic Hearing Loss and Deafness GJB3 817 100% GJB3‐Related Variabilis GJB3 817 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB4 805 100% GJB4‐Related Erythrokeratodermia Variabilis GJB5 826 100% . GJB6 790 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% GJB6‐Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% GJB6‐Related DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% Hidrotic Ectodermal Dysplasia 2 GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive GJB7 676 100% . GJC1 1195 100% . GJC2 1324 71% Pelizaeus‐Merzbacher‐Like Disease GJC3 848 100% . GJD2 974 100% . GJD3 736 41% . GJD4 1121 87% . GK 1784 100% Glycerol Deficiency GK2 1666 100% . GK5 1821 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:228

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GKAP1 1145 100% . GKN1 624 100% . GKN2 579 100% . GLA 1318 100% GLB1 2101 100% GM1 Gangliosidosis GLB1 2101 100% Mucopolysaccharidosis Type IVB GLB1L 2066 100% . GLB1L2 1987 97% . GLB1L3 2229 99% . GLCCI1 1676 78% . GLCE 1866 100% . GLDC 3163 96% GLDC‐Related Glycine Encephalopathy GLDC 3163 96% Glycine Encephalopathy GLDN 1696 93% . GLE1 2177 100% Lethal With Anterior Horn Cell Disease GLE1 2177 100% Lethal Congenital Contracture Syndrome 1 GLG1 3724 99% . GLI1 3365 100% . GLI2 4815 92% GLI2‐Related GLI2 4815 92% Holoprosencephaly GLI3 4867 100% GLI3‐Related Disorders GLI3 4867 100% Greig Cephalopolysyndactyly Syndrome GLI3 4867 100% Pallister‐Hall Syndrome GLI3 4867 100% Postaxial Polydactyly Type A GLI3 4867 100% Preaxial Polydactyly Type IV GLI4 1143 83% . GLIPR1 825 100% . GLIPR1L1 722 100% . GLIPR1L2 778 100% . GLIPR2 485 96% . GLIS1 1895 99% . GLIS2 1599 88% Nephronophthisis 7 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:229

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GLIS3 2874 100% Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism GLMN 1857 100% Glomuvenous Malformation GLO1 579 99% . GLOD4 1370 100% . GLOD5 463 93% . GLP1R 1444 95% . GLP2R 1714 100% . GLRA1 1410 100% GLRA1‐Related Hyperekplexia GLRA1 1410 100% Hyperekplexia GLRA2 1467 100% . GLRA3 1435 100% . GLRA4 1619 97% . GLRB 1530 100% GLRB‐Related Hyperekplexia GLRB 1530 100% Hyperekplexia GLRX 330 100% . GLRX2 637 92% . GLRX3 1052 91% . GLRX5 482 52% Pyridoxine‐Refractory Sideroblastic Anemia, Autosomal Recessive GLS 2273 84% . GLS2 1881 99% . GLT1D1 833 92% . GLT25D1 1924 81% . GLT25D2 1972 98% . GLT6D1 847 100% . GLT8D1 1366 100% . GLT8D2 1086 100% . GLTP 650 100% . GLTPD1 653 100% . GLTPD2 892 64% . GLTSCR1 4735 76% . GLTSCR2 1489 81% . GLUD1 1729 100% Familial Hyperinsulinism UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:230

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GLUD1 1729 100% GLUD1‐Related Hyperinsulinism GLUD2 1681 100% . GLUL 1146 100% . GLYAT 915 100% . GLYATL1 1112 97% . GLYATL2 905 100% . GLYATL3 887 76% . GLYCTK 1900 93% . GLYR1 1726 100% . GM2A 599 100% GM2 Deficiency GMCL1 1604 96% . GMDS 1164 94% . GMEB1 1758 100% . GMEB2 1629 100% . GMFB 495 100% . GMFG 457 100% . GMIP 2997 98% . GML 489 100% . GMNC 1025 100% . GMNN 654 100% . GMPPA 1506 100% . GMPPB 1196 100% . GMPR 1074 92% . GMPR2 1316 100% . GMPS 2146 99% . GNA11 1108 100% . GNA12 1162 89% . GNA13 1150 100% . GNA14 1096 100% . GNA15 1153 89% . GNAI1 1100 97% . GNAI2 1111 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:231

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GNAI3 1097 100% . GNAL 1574 82% . GNAO1 1447 100% . GNAQ 1108 100% . GNAS 4054 100% Albright Hereditary GNAS 4054 100% McCune‐Albright Syndrome GNAS 4054 100% Osseus Heteroplasia, Progressive GNAS 4054 100% Type IB GNAT1 1085 100% Congenital Stationary Night Blindness, Autosomal Dominant 3 GNAT2 1097 100% Achromatopsia GNAT2 1097 100% Achromatopsia 4 GNAT3 1097 100% . GNAZ 1076 100% . GNB1 1073 100% . GNB1L 1008 100% . GNB2 1059 100% . GNB2L1 1045 100% . GNB3 1059 100% . GNB4 1059 100% . GNB5 1236 100% . GNE 2310 100% GNE‐Related GNE 2310 100% Inclusion Body Myopathy 2 GNE 2310 100% Nonaka Myopathy GNE 2310 100% Sialuria GNG10 215 77% . GNG11 230 100% . GNG12 227 100% . GNG13 212 100% . GNG2 224 100% . GNG3 236 100% . GNG4 236 100% . GNG5 215 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:232

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GNG7 215 82% . GNG8 221 100% . GNGT1 233 100% . GNGT2 218 100% . GNL1 2021 96% . GNL2 2260 100% . GNL3 1720 100% . GNL3L 1811 100% . GNLY 469 100% . GNMT 912 84% . GNPAT 2107 100% Rhizomelic Chondrodysplasia Punctata Type 2 GNPDA1 957 100% . GNPDA2 866 100% . GNPNAT1 575 100% . GNPTAB 3855 100% GNPTAB‐Related Mucolipidoses GNPTAB 3855 100% Mucolipidosis II GNPTAB 3855 100% Mucolipidosis III Alpha/Beta GNPTG 962 83% Mucolipidosis III Gamma GNRH1 291 100% . GNRH2 375 100% . GNRHR 999 100% GNRHR‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency GNRHR 999 100% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency GNS 1715 94% Mucopolysaccharidosis Type IIID GOLGA1 2434 94% . GOLGA2 3113 100% . GOLGA3 4619 100% . GOLGA4 6883 100% . GOLGA5 2244 100% . GOLGA6A 2247 49% . GOLGA6B 2247 66% . GOLGA6C 2247 60% . GOLGA6D 2247 49% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:233

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GOLGA6L1 1924 24% . GOLGA6L10 3234 37% . GOLGA6L6 2285 13% . GOLGA6L9 2670 0% . GOLGA7 430 95% . GOLGA7B 580 97% . GOLGA8A 2044 37% . GOLGA8B 1876 22% . GOLGB1 9918 100% . GOLIM4 2155 100% . GOLM1 1272 100% . GOLPH3 970 98% . GOLPH3L 874 100% . GOLT1A 419 100% . GOLT1B 437 100% . GON4L 6993 98% . GOPC 1425 100% . GORAB 1209 100% . GORASP1 1544 98% . GORASP2 1399 96% . GOSR1 789 100% . GOSR2 837 96% . GOT1 1278 100% . GOT1L1 1302 100% . GOT2 1333 100% . GP1BA 1960 100% Bernard‐Soulier Syndrome Type A GP1BA 1960 100% Pseudo‐von Willebrand Disease GP1BB 629 4% Bernard‐Soulier Syndrome Type B GP2 1658 99% . GP5 1687 99% . GP6 1895 95% . GP9 538 90% Bernard‐Soulier Syndrome Type C UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:234

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPA33 988 100% . GPAA1 1914 96% . GPAM 2579 100% . GPANK1 1091 99% . GPAT2 2646 65% . GPATCH1 2876 97% . GPATCH2 1627 100% . GPATCH3 1606 100% . GPATCH4 1627 100% . GPATCH8 4541 100% . GPBAR1 997 100% . GPBP1 1487 98% . GPBP1L1 1465 100% . GPC1 1734 89% . GPC2 1780 85% . GPC3 1856 99% Simpson‐Golabi‐Behmel Syndrome GPC4 1707 100% . GPC5 1751 100% . GPC6 1839 100% Omodysplasia 1 GPCPD1 2095 100% . GPCRLTM7 1 0% . GPD1 1082 100% . GPD1L 1088 100% . GPD2 2248 100% . GPER 1132 100% . GPHA2 402 100% . GPHB5 400 100% . GPHN 2402 100% GPHN‐Related Hyperekplexia GPHN 2402 100% Hyperekplexia GPI 3140 96% . GPIHBP1 571 92% . GPKOW 1475 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:235

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPLD1 2664 98% . GPM6A 881 100% . GPM6B 1145 99% . GPN1 1677 92% . GPN2 953 100% . GPN3 888 100% . GPNMB 1849 100% . GPR1 1072 100% . GPR101 1531 100% . GPR107 1887 89% . GPR108 1704 99% . GPR110 2842 98% . GPR111 2017 100% . GPR112 9335 100% . GPR113 3555 98% . GPR114 1631 100% . GPR115 2120 100% . GPR116 4121 100% . GPR119 1012 100% . GPR12 1009 100% . GPR123 1881 83% . GPR124 4093 78% . GPR125 4084 98% . GPR126 3903 100% . GPR128 2458 100% . GPR132 1151 100% . GPR133 2755 97% . GPR135 1489 78% . GPR137 1755 95% . GPR137B 1371 100% . GPR137C 1318 94% . GPR139 1070 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:236

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPR141 922 100% . GPR142 1405 100% . GPR143 1311 76% Congenital Nystagmus 6, X‐Linked GPR143 1311 76% , X‐Linked GPR144 2972 64% . GPR146 1006 100% . GPR148 1048 100% . GPR149 2212 100% . GPR15 1087 100% . GPR150 1309 52% . GPR151 1264 100% . GPR152 1417 100% . GPR153 1850 63% . GPR155 2673 100% . GPR156 2481 100% . GPR157 1188 75% . GPR158 3692 100% . GPR160 1021 100% . GPR161 1610 100% . GPR162 1802 100% . GPR17 1112 100% . GPR171 964 100% . GPR172A 1354 100% . GPR172B 1363 100% . GPR173 1126 99% . GPR174 1006 100% . GPR176 1560 92% . GPR179 7151 100% . GPR18 1000 100% . GPR180 1359 90% . GPR182 1219 100% . GPR183 1090 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:237

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPR19 1252 100% . GPR20 1081 96% . GPR21 1054 100% . GPR22 1306 100% . GPR25 1090 92% . GPR26 1026 91% . GPR27 1132 67% . GPR3 997 100% . GPR31 964 100% . GPR32 1075 100% . GPR33 1003 0% . GPR34 1150 100% . GPR35 1031 91% . GPR37 1850 100% . GPR37L1 1454 100% . GPR39 1370 100% . GPR4 1093 100% . GPR45 1123 100% . GPR50 1862 100% . GPR52 1090 100% . GPR55 964 100% . GPR56 2134 100% GPR6 1111 100% . GPR61 1360 100% . GPR62 1111 66% . GPR63 1264 100% . GPR64 3167 100% . GPR65 1018 100% . GPR68 1132 73% . GPR75 1627 100% . GPR75‐ASB3 1720 95% . GPR77 1018 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:238

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPR78 1104 98% . GPR82 1015 100% . GPR83 1288 100% . GPR84 1195 100% . GPR85 1117 100% . GPR87 1085 100% . GPR88 1159 77% . GPR89A 1424 86% . GPR89B 1434 30% . GPR89C 1998 0% . GPR97 1698 100% . GPR98 19387 100% Usher Syndrome Type 2 GPR98 19387 100% Usher Syndrome Type 2C GPRASP1 4192 100% . GPRASP2 2521 100% . GPRC5A 1086 100% . GPRC5B 1224 100% . GPRC5C 1485 100% . GPRC5D 1050 100% . GPRC6A 2805 100% . GPRIN1 3099 93% . GPRIN2 1381 100% . GPRIN3 2335 100% . GPS1 2135 96% . GPS2 1024 98% . GPSM1 2251 72% . GPSM2 2180 100% . GPSM3 523 95% . GPT 1649 96% . GPT2 1616 96% . GPX1 665 89% . GPX2 581 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:239

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GPX3 701 100% . GPX4 623 86% . GPX5 692 99% . GPX6 697 100% . GPX7 576 96% . GPX8 642 100% . GRAMD1A 2255 98% . GRAMD1B 2468 100% . GRAMD1C 2061 99% . GRAMD2 1113 96% . GRAMD3 1572 89% . GRAMD4 1809 96% . GRAP 674 55% . GRAP2 1022 100% . GRAPL 701 1% . GRASP 1220 67% . GRB10 1882 100% . GRB14 1701 92% . GRB2 674 100% . GRB7 1728 99% . GREB1 6338 100% . GREB1L 5970 79% . GREM1 559 100% . GREM2 511 100% . GRHL1 1953 100% . GRHL2 1944 100% DFNA28 Nonsyndromic Hearing Loss and Deafness GRHL2 1944 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GRHL3 2100 98% . GRHPR 1541 99% Hyperoxaluria, Primary, Type 2 GRIA1 2904 100% . GRIA2 2831 100% . GRIA3 2864 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:240

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GRIA4 3040 100% . GRID1 3094 98% . GRID2 3088 100% . GRID2IP 3724 61% . GRIK1 2990 99% . GRIK2 2968 100% . GRIK3 2878 100% . GRIK4 2947 87% . GRIK5 3019 85% . GRIN1 3178 90% . GRIN2A 4443 100% . GRIN2B 4503 100% . GRIN2C 3804 69% . GRIN2D 4059 58% . GRIN3A 3384 93% . GRIN3B 3169 60% . GRINA 1140 100% . GRIP1 3327 100% . GRIP2 3526 99% . GRIPAP1 2684 99% . GRK1 1720 58% 2 GRK4 1889 100% . GRK5 1837 100% . GRK6 1868 100% . GRK7 1678 100% . GRM1 3682 100% . GRM2 2642 100% . GRM3 2701 100% . GRM4 2906 100% . GRM5 3675 95% . GRM6 3398 85% Congenital Stationary Night Blindness, Type 1B GRM6 3398 85% GRM6‐Related Autosomal Recessive Congenital Stationary Night Blindness UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:241

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GRM7 2868 100% . GRM8 2817 100% . GRN 1830 100% GRN‐Related Frontotemporal Dementia GRP 459 70% . GRPEL1 670 100% . GRPEL2 768 99% . GRPR 1167 100% . GRSF1 1773 63% . GRTP1 1157 100% . GRWD1 1369 99% . GRXCR1 889 100% . GRXCR2 759 100% . GSC 786 48% . GSC2 630 51% . GSDMA 1382 100% . GSDMB 1303 100% . GSDMC 1579 100% . GSDMD 1495 95% . GSG1 1254 100% . GSG1L 1024 67% . GSG2 2401 100% . GSK3A 1533 80% . GSK3B 1350 100% . GSN 2535 97% Amyloidosis V GSPT1 1974 93% . GSPT2 1891 100% . GSR 1621 81% . GSS 1473 100% 5‐Oxoprolinuria GSTA1 693 100% . GSTA2 693 100% . GSTA3 693 100% . GSTA4 693 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:242

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GSTA5 693 100% . GSTCD 1946 100% . GSTK1 877 100% . GSTM1 746 60% Lung Cancer GSTM1 746 60% Lung Cancer, GSTM1‐Related GSTM2 759 100% . GSTM3 710 97% . GSTM4 933 100% . GSTM5 911 100% . GSTO1 750 100% . GSTO2 756 100% . GSTP1 661 100% . GSTT1 743 79% . GSTT2 1510 33% . GSTT2B 755 28% . GSTZ1 819 97% . GSX1 803 73% . GSX2 923 88% . GTDC1 1413 100% . GTF2A1 1167 100% . GTF2A1L 1500 98% . GTF2A2 350 100% . GTF2B 979 100% . GTF2E1 1336 100% . GTF2E2 904 100% . GTF2F1 1606 100% . GTF2F2 782 95% . GTF2H1 1703 100% . GTF2H2 1248 44% . GTF2H2C 1276 51% . GTF2H2D 1276 51% . GTF2H3 979 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:243

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GTF2H4 1506 96% . GTF2H5 224 100% . GTF2I 3134 70% . GTF2IRD1 3197 100% . GTF2IRD2 3104 71% . GTF2IRD2B 3000 75% . GTF3A 1248 98% . GTF3C1 6478 100% . GTF3C2 2902 100% . GTF3C3 2860 100% . GTF3C4 2489 99% . GTF3C5 1702 98% . GTF3C6 666 91% . GTPBP1 2058 91% . GTPBP10 1204 100% . GTPBP2 2037 99% . GTPBP3 1608 96% . GTPBP4 1973 100% . GTPBP5 1245 100% . GTPBP6 964 99% . GTPBP8 957 100% . GTSE1 2264 100% . GTSF1 532 100% . GTSF1L 451 100% . GUCA1A 622 100% Cone Dystrophy 3 GUCA1B 619 100% GUCA1B‐Related Retinitis Pigmentosa GUCA1B 619 100% Retinitis Pigmentosa, Autosomal Dominant GUCA1C 690 100% . GUCA2A 360 79% . GUCA2B 351 100% . GUCY1A2 2328 100% . GUCY1A3 2113 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:244

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

GUCY1B3 2045 100% . GUCY2C 3330 100% . GUCY2D 3384 85% Cone‐Rod Dystrophy 6 GUCY2D 3384 85% GUCY2D‐Related Leber Congenital Amaurosis GUCY2D 3384 85% Leber Congenital Amaurosis GUCY2F 3399 100% . GUF1 2102 100% . GUK1 971 95% . GULP1 1201 100% . GUSB 2004 100% Mucopolysaccharidosis Type VII GXYLT1 1355 90% . GXYLT2 1360 88% . GYG1 1143 99% . GYG2 1693 99% . GYLTL1B 2218 85% . GYPA 481 99% . GYPB 296 100% . GYPC 424 98% . GYPE 249 100% . GYS1 2333 91% Glycogen Storage Disease Type 0, Muscle GYS2 2176 100% Glycogen Storage Disease Type 0, GZF1 2156 100% . GZMA 809 100% . GZMB 869 100% . GZMH 762 100% . GZMK 815 100% . GZMM 794 90% . H1F0 589 100% . H1FNT 772 100% . H1FOO 1061 76% . H1FX 646 93% . H2AFB1 1056 15% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:245

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

H2AFB2 704 0% . H2AFB3 1056 15% . H2AFJ 394 100% . H2AFV 634 99% . H2AFX 436 100% . H2AFY 1383 100% . H2AFY2 1151 100% . H2AFZ 407 100% . H2BFM 545 100% . H2BFWT 536 100% . H3F3A 513 100% . H3F3B 423 100% . H3F3C 412 100% . H6PD 2392 100% . HAAO 903 91% . HABP2 1735 100% Factor VII Marburg I Variant Thrombophilia HABP4 1274 75% . HACE1 2859 97% . HACL1 1951 100% . HADH 1209 100% 3‐Hydroxyacyl‐Coenzyme A Dehydrogenase Deficiency HADH 1209 100% Familial Hyperinsulinism HADH 1209 100% HADH‐Related Hyperinsulinism HADHA 2441 99% Long Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency HADHA 2441 99% Trifunctional Deficiency HADHB 1485 100% Trifunctional Protein Deficiency HAGH 963 92% . HAGHL 1070 60% . HAL 2054 100% HAMP 267 100% HAMP‐Related Juvenile Hemochromatosis HAMP 267 100% Juvenile Hemochromatosis HAND1 656 100% . HAND2 662 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:246

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HAO1 1145 100% . HAO2 1092 100% . HAP1 1928 100% . HAPLN1 1095 100% . HAPLN2 1043 81% . HAPLN3 1099 100% . HAPLN4 1229 93% . HARBI1 1058 100% . HARS 1583 100% . HARS2 1729 94% . HAS1 1816 81% . HAS2 1671 100% . HAS3 1786 100% . HAT1 1304 100% . HAUS1 873 97% . HAUS2 732 88% . HAUS3 1828 100% . HAUS4 1128 100% . HAUS5 1978 93% . HAUS6 2947 100% . HAUS7 1147 94% . HAUS8 1286 100% . HAVCR1 1272 100% . HAVCR2 934 100% . HAX1 968 100% Severe Congenital Neutropenia, Autosomal Recessive, 3 HBA1 441 72% Alpha‐Thalassemia HBA2 441 52% Alpha‐Thalassemia HBA2 441 52% Constant Spring HBA2 441 52% Hemoglobin Pakse HBA2 441 52% Hemoglobin Quong Sze HBB 456 100% Beta‐Thalassemia HBB 456 100% Hemoglobin E UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:247

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HBB 456 100% Hemoglobin S Beta‐Thalassemia HBB 456 100% Hemoglobin SC HBB 456 100% Hemoglobin SD HBB 456 100% Hemoglobin SO HBB 456 100% Hemoglobin SS HBB 456 100% Sickle Cell Disease HBD 490 100% . HBE1 456 100% . HBEGF 647 100% . HBG1 506 75% . HBG2 506 100% . HBM 438 93% . HBP1 1590 100% . HBQ1 441 72% . HBS1L 3762 100% . HBXIP 538 100% . HBZ 441 23% Alpha‐Thalassemia HCAR1 1045 100% . HCAR2 1096 100% . HCAR3 1 0% . HCCS 831 100% Microphthalmia with Linear Skin Defects Syndrome HCFC1 6347 97% . HCFC1R1 433 87% . HCFC2 2439 100% . HCK 1701 91% . HCLS1 1547 100% . HCN1 2705 96% . HCN2 2702 70% . HCN3 2357 98% . HCN4 3644 89% Sick Sinus Syndrome 2, Autosomal Dominant HCRT 404 55% . HCRTR1 1306 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:248

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HCRTR2 1363 100% . HCST 298 100% . HDAC1 1583 95% . HDAC10 2090 98% . HDAC11 1084 99% . HDAC2 1915 95% . HDAC3 1347 100% . HDAC4 3485 97% . HDAC5 3515 99% . HDAC6 3849 99% . HDAC7 3093 84% . HDAC8 1394 100% . HDAC9 3467 100% . HDC 2037 100% . HDDC2 640 94% . HDDC3 439 78% . HDGF 956 96% . HDGFL1 760 90% . HDGFRP2 2095 73% . HDGFRP3 636 95% . HDHD1 777 82% . HDHD2 804 100% . HDHD3 760 100% . HDLBP 4134 97% . HDX 2109 100% . HEATR1 6615 100% . HEATR2 2620 75% . HEATR3 2174 99% . HEATR4 3004 100% . HEATR5A 6267 100% . HEATR5B 6356 100% . HEATR6 3626 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:249

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HEATR7A 5336 30% . HEATR7B2 4929 100% . HEATR8 4328 100% . HEBP1 586 100% . HEBP2 634 83% . HECA 1648 83% . HECTD1 8038 100% . HECTD2 2610 95% . HECTD3 2738 96% . HECW1 4933 100% . HECW2 4831 100% . HEG1 4307 93% . HELB 3316 100% . HELLS 2605 99% . HELQ 3492 100% . HELT 1000 100% . HELZ 5949 100% . HEMGN 1471 100% . HEMK1 1057 100% . HENMT1 1216 100% . HEPACAM 1389 79% . HEPACAM2 1512 100% . HEPH 3567 100% . HEPHL1 3560 100% . HEPN1 271 100% . HERC1 14897 100% . HERC2 15212 98% . HERC3 3287 100% . HERC4 3270 100% . HERC5 3167 93% . HERC6 3231 99% . HERPUD1 1208 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:250

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HERPUD2 1253 100% . HES1 859 100% . HES2 538 40% . HES3 573 62% . HES4 756 67% . HES5 513 43% . HES6 995 61% . HES7 694 62% HES7‐Related Spondylocostal Dysostosis, Autosomal Recessive HES7 694 62% Spondylocostal Dysostosis HES7 694 62% Spondylocostal Dysostosis, Autosomal Recessive HESX1 574 100% HESX1‐Related Combined Pituitary Hormone Deficiency HESX1 574 100% Septooptic Dysplasia HEXA 1679 100% A Deficiency HEXB 1727 98% Sandhoff Disease HEXDC 1802 100% . HEXIM1 1084 100% . HEXIM2 869 83% . HEY1 947 91% . HEY2 1034 95% . HEYL 1007 80% . HFE 1071 100% HFE‐Associated Hereditary Hemochromatosis HFE2 1293 100% HJV (HFE2)‐Related Juvenile Hemochromatosis HFE2 1293 100% Juvenile Hemochromatosis HFM1 4468 100% . HGC6.3 1 0% . HGD 1395 100% Alkaptonuria HGF 2301 98% DFNB39 Nonsyndromic Hearing Loss and Deafness HGF 2301 98% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive HGFAC 2024 94% . HGS 2422 99% . HGSNAT 2064 90% Mucopolysaccharidosis Type IIIC HHAT 1527 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:251

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HHATL 1561 99% . HHEX 829 64% . HHIP 2287 100% . HHIPL1 2486 63% . HHIPL2 2211 100% . HHLA1 1695 92% . HHLA2 1357 100% . HHLA3 475 76% . HIAT1 1581 96% . HIATL1 1572 93% . HIBADH 1043 91% . HIBCH 1293 100% . HIC1 2210 69% . HIC2 1856 100% . HIF1A 2545 100% . HIF1AN 1182 94% . HIF3A 2247 95% . HIGD1A 356 100% . HIGD1B 312 100% . HIGD1C 306 89% . HIGD2A 329 100% . HILPDA 196 100% . HINFP 1590 100% . HINT1 449 100% . HINT2 512 83% . HINT3 569 64% . HIP1 3238 98% . HIP1R 3419 88% . HIPK1 3797 100% . HIPK2 3749 99% . HIPK3 3712 100% . HIPK4 1867 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:252

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HIRA 3154 100% . HIRIP3 1699 100% . HIST1H1A 652 100% . HIST1H1B 685 100% . HIST1H1C 646 100% . HIST1H1D 670 100% . HIST1H1E 664 100% . HIST1H1T 628 100% . HIST1H2AA 400 100% . HIST1H2AB 397 100% . HIST1H2AC 397 100% . HIST1H2AD 397 100% . HIST1H2AE 397 100% . HIST1H2AG 397 100% . HIST1H2AH 391 100% . HIST1H2AI 397 100% . HIST1H2AJ 391 100% . HIST1H2AK 397 100% . HIST1H2AL 397 100% . HIST1H2AM 397 100% . HIST1H2BA 388 100% . HIST1H2BB 385 100% . HIST1H2BC 385 100% . HIST1H2BD 385 100% . HIST1H2BE 385 100% . HIST1H2BF 385 100% . HIST1H2BG 385 100% . HIST1H2BH 385 100% . HIST1H2BI 385 100% . HIST1H2BJ 385 100% . HIST1H2BK 385 100% . HIST1H2BL 385 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:253

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HIST1H2BM 385 100% . HIST1H2BN 385 100% . HIST1H2BO 385 100% . HIST1H3A 415 100% . HIST1H3B 415 100% . HIST1H3C 415 100% . HIST1H3D 415 100% . HIST1H3E 415 100% . HIST1H3F 415 100% . HIST1H3G 415 100% . HIST1H3H 415 100% . HIST1H3I 415 100% . HIST1H3J 415 100% . HIST1H4A 316 100% . HIST1H4B 316 100% . HIST1H4C 316 100% . HIST1H4D 316 100% . HIST1H4E 316 100% . HIST1H4F 316 100% . HIST1H4G 301 100% . HIST1H4H 316 100% . HIST1H4I 316 100% . HIST1H4J 316 100% . HIST1H4K 316 100% . HIST1H4L 316 100% . HIST2H2AA3 794 0% . HIST2H2AA4 794 0% . HIST2H2AB 397 100% . HIST2H2AC 394 100% . HIST2H2BE 385 100% . HIST2H2BF 387 99% . HIST2H3A 830 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:254

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HIST2H3C 830 0% . HIST2H3D 415 100% . HIST2H4A 632 0% . HIST2H4B 632 0% . HIST3H2A 397 100% . HIST3H2BB 385 100% . HIST3H3 415 100% . HIST4H4 316 100% . HIVEP1 8189 100% . HIVEP2 7365 100% . HIVEP3 7245 99% . HJURP 2283 96% . HK1 3004 100% . HK2 2826 96% . HK3 2959 96% . HKDC1 2826 100% . HKR1 1996 100% . HLA‐A 1207 95% . HLA‐B 1407 97% . HLA‐C 1329 96% . HLA‐DMA 841 96% . HLA‐DMB 901 95% . HLA‐DOA 891 97% . HLA‐DOB 877 96% . HLA‐DPA1 827 97% . HLA‐DPB1 853 96% . HLA‐DQA1 784 98% Celiac Disease HLA‐DQA2 812 97% . HLA‐DQB1 844 98% Celiac Disease HLA‐DQB2 786 96% . HLA‐DRA 805 97% . HLA‐DRB1 856 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:255

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HLA‐DRB3 6 0% . HLA‐DRB4 12 0% . HLA‐DRB5 825 96% . HLA‐E 1273 97% . HLA‐F 1558 97% . HLA‐G 1089 97% . HLCS 2217 100% Holocarboxylase Synthetase Deficiency HLF 904 100% . HLTF 3142 100% . HLX 1483 99% . HM13 1337 98% . HMBOX1 1299 100% . HMBS 1142 90% Hydroxymethylbilane Synthase Deficiency HMCN1 17336 100% Age‐Related Macular Degeneration HMCN1 17336 100% Age‐Related Macular Degeneration 1 HMG20A 1076 100% . HMG20B 1604 92% . HMGA1 1071 76% . HMGA2 426 74% . HMGB1 701 100% . HMGB2 646 100% . HMGB3 619 100% . HMGB4 1 0% . HMGCL 1014 95% 3‐Hydroxy‐3‐Methylglutaryl‐Coenzyme A Lyase Deficiency HMGCLL1 1166 100% . HMGCR 2743 100% . HMGCS1 1599 100% . HMGCS2 1563 100% 3‐Hydroxy‐3‐Methylglutaryl‐CoA Synthase 2 Deficiency HMGN1 640 97% . HMGN2 297 98% . HMGN3 326 100% . HMGN4 277 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:256

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HMGN5 873 52% . HMGXB3 3957 99% . HMGXB4 1846 100% . HMHA1 3503 93% . HMHB1 134 81% . HMMR 2250 100% . HMOX1 887 98% . HMOX2 971 100% . HMP19 532 100% . HMSD 432 100% . HMX1 1144 22% . HMX2 830 100% . HMX3 1082 82% . HN1 612 90% . HN1L 593 92% . HNF1A 2318 95% Maturity‐Onset Diabetes of the Young Type 3 HNF1B 1865 92% Renal Cysts and Diabetes Syndrome HNF4A 1643 100% HNF4A‐Related Maturity‐Onset Diabetes of the Young Type 1 HNF4A 1643 100% Maturity‐Onset Diabetes of the Young Type 1 HNF4G 1378 100% . HNMT 1121 100% . HNRNPA0 922 98% . HNRNPA1 1163 100% . HNRNPA1L2 967 100% . HNRNPA2B1 1106 100% . HNRNPA3 1177 97% . HNRNPAB 1027 79% . HNRNPC 949 100% . HNRNPCL1 886 100% . HNRNPD 1100 85% . HNRNPF 1252 100% . HNRNPH1 1428 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:257

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HNRNPH2 1407 100% . HNRNPH3 1077 100% . HNRNPK 1532 100% . HNRNPL 1822 90% . HNRNPM 2257 97% . HNRNPR 1954 100% . HNRNPU 2556 99% . HNRNPUL1 2661 98% . HNRNPUL2 2300 92% . HNRPDL 1291 90% . HNRPLL 1750 98% . HOGA1 1012 100% Hyperoxaluria, Primary, Type 3 HOMER1 1101 100% . HOMER2 1101 99% . HOMER3 1122 86% . HOMEZ 1661 97% . HOOK1 2275 89% . HOOK2 2568 91% . HOOK3 2245 97% . HOPX 466 99% . HORMAD1 1241 100% . HORMAD2 964 100% . HOXA1 1016 100% Athabaskan Brainstem Dysgenesis Syndrome HOXA1 1016 100% Bosley‐Salih‐Alorainy Syndrome HOXA1 1016 100% HOXA1‐Related Disorders HOXA10 1241 88% . HOXA11 950 94% . HOXA13 1175 73% Hand‐Foot‐Genital Syndrome HOXA2 1139 100% . HOXA3 1340 100% . HOXA4 971 72% . HOXA5 821 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:258

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HOXA6 710 100% . HOXA7 701 100% . HOXA9 827 96% . HOXB1 914 100% . HOXB13 863 100% . HOXB2 1079 100% . HOXB3 1304 100% . HOXB4 764 94% . HOXB5 818 100% . HOXB6 683 95% . HOXB7 662 86% . HOXB8 740 100% . HOXB9 761 100% . HOXC10 1037 100% . HOXC11 923 96% . HOXC12 857 68% . HOXC13 1001 82% . HOXC4 803 100% . HOXC5 677 97% . HOXC6 741 100% . HOXC8 737 100% . HOXC9 791 97% . HOXD1 995 87% . HOXD10 1031 100% Congenital Vertical Talus HOXD11 1025 51% . HOXD12 849 100% . HOXD13 1040 91% HOXD13 1040 91% Brachydactyly Type E HOXD13 1040 91% HOXD13‐Related Brachydactyly HOXD13 1040 91% Syndactyly, Type II HOXD3 1307 100% . HOXD4 776 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:259

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HOXD8 881 81% . HOXD9 1067 80% . HP 1359 97% Anhaptoglobinemia HP1BP3 1710 100% . HPCA 594 99% . HPCAL1 638 100% . HPCAL4 588 100% . HPD 1238 100% HPD 1238 100% Tyrosinemia Type III HPDL 1120 99% . HPGD 829 94% Isolated Congenital Digital Clubbing HPGD 829 94% Primary Hypertrophic Osteoarthropathy, Autosomal Recessive HPGDS 620 100% . HPN 1472 91% . HPR 1183 100% . HPRT1 693 96% Gout, HPRT1‐Related HPRT1 693 96% Lesch‐Nyhan Syndrome HPS1 2217 93% Hermansky‐Pudlak Syndrome HPS1 2217 93% Hermansky‐Pudlak Syndrome 1 HPS3 3083 99% Hermansky‐Pudlak Syndrome HPS3 3083 99% Hermansky‐Pudlak Syndrome 3 HPS4 2205 100% Hermansky‐Pudlak Syndrome HPS4 2205 100% Hermansky‐Pudlak Syndrome 4 HPS5 3478 100% Hermansky‐Pudlak Syndrome HPS5 3478 100% Hermansky‐Pudlak Syndrome 5 HPS6 2332 90% Hermansky‐Pudlak Syndrome HPS6 2332 90% Hermansky‐Pudlak Syndrome 6 HPSE 1680 96% . HPSE2 1865 92% . HPX 1429 100% . HR 3642 92% Alopecia Universalis HR 3642 92% Papular Atrichia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:260

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HRAS 653 100% HRASLS 519 100% . HRASLS2 505 100% . HRASLS5 864 92% . HRC 2124 99% . HRCT1 352 100% . HRG 1606 100% . HRH1 1468 100% . HRH2 1206 100% . HRH3 1350 96% . HRH4 1185 100% . HRK 280 6% . HRNR 8561 82% . HRSP12 438 100% . HS1BP3 1457 98% . HS2ST1 1119 100% . HS3ST1 928 98% . HS3ST2 1112 97% . HS3ST3A1 1229 82% . HS3ST3B1 1181 96% . HS3ST4 1379 67% . HS3ST5 1049 100% . HS3ST6 1154 60% . HS6ST1 1244 83% . HS6ST2 1958 98% . HS6ST3 1424 98% . HSBP1 243 80% . HSBP1L1 241 0% . HSCB 737 99% . HSD11B1 903 100% . HSD11B1L 1139 65% . HSD11B2 1238 78% Apparent Mineralocorticoid Excess Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:261

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HSD17B1 1011 100% . HSD17B10 810 96% 17‐Beta‐Hydroxysteroid Dehydrogenase X Deficiency HSD17B11 931 100% . HSD17B12 983 100% . HSD17B13 931 100% . HSD17B14 849 100% . HSD17B2 1184 100% . HSD17B3 977 100% 17‐beta Hydroxysteroid Dehydrogenase III Deficiency HSD17B3 977 100% Prostate Cancer HSD17B4 2448 96% Peroxisomal Bifunctional Enzyme Deficiency HSD17B6 970 100% . HSD17B7 1078 100% . HSD17B8 867 91% . HSD3B1 1140 100% . HSD3B2 1131 100% 3‐beta‐Hydroxysteriod Dehydrogenase‐Deficient Congenital Adrenal Hyperplasia HSD3B2 1131 100% Prostate Cancer HSD3B7 1134 100% . HSDL1 1009 100% . HSDL2 1301 99% . HSF1 1711 93% . HSF2 1663 100% . HSF2BP 1046 96% . HSF4 1545 94% . HSF5 1879 99% . HSFX1 2560 0% . HSFX2 2560 0% . HSFY1 2634 0% . HSFY2 2634 0% . HSH2D 1451 98% . HSP90AA1 2613 100% . HSP90AB1 2219 100% . HSP90B1 2484 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:262

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HSPA12A 2076 98% . HSPA12B 2126 86% . HSPA13 1436 100% . HSPA14 1586 100% . HSPA1A 1934 34% . HSPA1B 1934 35% . HSPA1L 1934 100% . HSPA2 1924 100% . HSPA4 2599 99% . HSPA4L 2686 100% . HSPA5 1997 100% . HSPA6 1936 97% . HSPA8 1973 100% . HSPA9 2173 100% . HSPB1 827 79% Charcot‐Marie‐Tooth Neuropathy Type 2 HSPB1 827 79% Charcot‐Marie‐Tooth Neuropathy Type 2F HSPB1 827 79% Distal Hereditary Motor Neuronopathy, Type IIB HSPB11 496 100% . HSPB2 557 98% . HSPB3 457 100% Distal Hereditary Motor Neuronopathy, Type IIC HSPB6 495 46% . HSPB7 804 98% . HSPB8 603 100% Charcot‐Marie‐Tooth Neuropathy Type 2 HSPB8 603 100% Charcot‐Marie‐Tooth Neuropathy Type 2L HSPB8 603 100% Distal Hereditary Motor Neuronopathy, Type IIA HSPB9 484 100% . HSPBAP1 1499 100% . HSPBP1 1108 98% . HSPD1 1778 100% Spastic Paraplegia 13 HSPE1 373 99% . HSPE1‐MOB4 822 100% . HSPG2 14046 96% Dyssegmental Dysplasia, Silverman‐Handmaker Type UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:263

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HSPG2 14046 96% Schwartz‐Jampel Syndrome, Type 1 HSPH1 2670 100% . HTATIP2 855 88% . HTATSF1 2304 100% . HTN1 190 100% . HTN3 172 100% . HTR1A 1273 100% . HTR1B 1177 100% . HTR1D 1138 100% . HTR1E 1102 100% . HTR1F 1105 100% . HTR2A 1429 100% . HTR2B 1458 100% . HTR2C 1393 100% . HTR3A 1609 98% . HTR3B 1362 100% . HTR3C 1380 100% . HTR3D 1567 96% . HTR3E 1526 100% . HTR4 1477 100% . HTR5A 1082 100% . HTR6 1335 100% . HTR7 1460 100% . HTRA1 1479 68% Age‐Related Macular Degeneration HTRA1 1479 68% Age‐Related Macular Degeneration 7 HTRA1 1479 68% CARASIL HTRA2 1439 100% HTRA2‐Related Parkinson Disease HTRA2 1439 100% Parkinson Disease HTRA3 1398 85% . HTRA4 1467 80% . HTT 9701 97% Huntington Disease HUNK 2189 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:264

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

HUS1 875 100% . HUS1B 841 100% . HUWE1 13455 99% . HVCN1 846 100% . HYAL1 1320 100% Mucopolysaccharidosis Type IX HYAL2 1434 100% . HYAL3 1411 100% . HYAL4 1458 100% . HYDIN 15769 85% . HYI 1082 82% . HYLS1 904 100% Hydrolethalus Syndrome 1 HYOU1 3100 100% . IAH1 800 99% . IAPP 278 100% . IARS 3928 100% . IARS2 3131 100% . IBA57 1083 73% . IBSP 978 100% . IBTK 4202 100% . ICA1 1753 100% . ICA1L 1503 100% . ICAM1 1627 100% . ICAM2 844 100% . ICAM3 1672 100% . ICAM4 925 100% . ICAM5 2819 85% . ICK 1951 100% . ICMT 875 77% . ICOS 620 100% Common Variable Immune Deficiency ICOSLG 1461 84% . ICT1 645 98% . ID1 500 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:265

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ID2 413 100% . ID3 368 100% . ID4 494 76% . IDAS 1195 0% . IDE 3160 97% . IDH1 1280 100% . IDH2 1403 88% . IDH3A 1145 98% . IDH3B 1366 100% IDH3B‐Related Retinitis Pigmentosa IDH3B 1366 100% Retinitis Pigmentosa, Autosomal Recessive IDH3G 1337 98% . IDI1 958 97% . IDI2 700 100% . IDO1 1252 100% . IDO2 1265 100% . IDS 1841 100% Mucopolysaccharidosis Type II IDUA 2217 76% Mucopolysaccharidosis Type I IER2 676 87% . IER3 597 94% . IER3IP1 261 97% . IER5 988 89% . IER5L 1219 65% . IFFO1 1732 99% . IFFO2 1590 70% . IFI16 2414 100% . IFI27 388 100% . IFI27L1 331 100% . IFI27L2 409 100% . IFI30 781 100% . IFI35 897 98% . IFI44 1406 100% . IFI44L 1391 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:266

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IFI6 433 76% . IFIH1 3186 100% . IFIT1 1445 100% . IFIT1B 1433 100% . IFIT2 1427 100% . IFIT3 1490 100% . IFIT5 1457 100% . IFITM1 401 100% . IFITM10 699 89% . IFITM2 514 100% . IFITM3 511 100% . IFITM5 407 94% . IFLTD1 1354 95% . IFNA1 574 100% . IFNA10 574 100% . IFNA13 577 100% . IFNA14 574 100% . IFNA16 574 100% . IFNA17 574 100% . IFNA2 571 100% . IFNA21 574 100% . IFNA4 574 100% . IFNA5 574 100% . IFNA6 574 100% . IFNA7 574 100% . IFNA8 574 100% . IFNAR1 1718 100% . IFNAR2 1777 100% . IFNB1 568 100% . IFNE 631 100% . IFNG 517 100% . IFNGR1 1543 100% Familial Atypical Mycobacteriosis, IFNGR1‐Related UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:267

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IFNGR2 1042 93% Familial Atypical Mycobacteriosis, IFNGR2‐Related IFNK 628 100% . IFNW1 592 100% . IFRD1 1444 100% Spinocerebellar Ataxia Type18 IFRD2 1569 98% . IFT122 4106 99% Cranioectodermal Dysplasia 1 IFT140 4610 98% . IFT172 5540 100% . IFT20 539 77% . IFT27 589 100% . IFT43 762 100% . IFT46 1112 100% . IFT52 1366 100% . IFT57 1432 98% . IFT74 1948 100% . IFT80 2439 100% Asphyxiating Thoracic Dystrophy 2 IFT81 2215 95% . IFT88 2606 99% . IGBP1 1044 100% Agenesis of the with Mental Retardation, Ocular Coloboma, and Micrognathia IGDCC3 2501 96% . IGDCC4 4019 92% . IGF1 687 100% Insulin‐Like Growth Factor I Deficiency IGF1R 4188 97% Insulin‐Like Growth Factor I, Resistance to IGF2 736 100% Beckwith‐Wiedemann Syndrome IGF2 736 100% Russell‐Silver Syndrome IGF2BP1 1794 100% . IGF2BP2 1882 99% . IGF2BP3 1808 100% . IGF2R 7672 98% . IGFALS 1940 90% Acid‐Labile Subunit Deficiency IGFBP1 796 90% . IGFBP2 1080 67% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:268

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IGFBP3 1040 47% . IGFBP4 793 61% . IGFBP5 970 97% . IGFBP6 739 64% . IGFBP7 869 51% . IGFBPL1 853 47% . IGFL1 349 100% . IGFL2 432 95% . IGFL3 394 100% . IGFL4 399 99% . IGFLR1 1084 100% . IGFN1 4716 97% . IGHMBP2 3042 98% Spinal Muscular Atrophy with Respiratory Distress 1 IGIP 166 100% . IGJ 496 100% . IGLL1 761 97% . IGLL5 665 84% . IGLON5 1043 91% . IGSF1 4164 100% . IGSF10 7897 100% . IGSF11 1377 100% . IGSF21 1444 95% . IGSF22 4103 74% . IGSF23 599 100% . IGSF3 3689 100% . IGSF5 1260 93% . IGSF6 857 100% . IGSF8 1866 97% . IGSF9 3620 98% . IGSF9B 4126 100% . IHH 1248 100% Brachydactyly Type A1 IK 1782 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:269

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IKBIP 1906 100% . IKBKAP 4143 100% Familial Dysautonomia IKBKB 2439 100% . IKBKE 2866 97% . IKBKG 1504 27% Familial Atypical Mycobacteriosis, X‐Linked 1 IKBKG 1504 27% Hypohidrotic Ectodermal Dysplasia with Immune Deficiency IKBKG 1504 27% Immunodeficiency without Anhidrotic Ectodermal Dysplasia IKBKG 1504 27% IKZF1 1791 99% . IKZF2 1746 100% . IKZF3 1562 100% . IKZF4 1848 99% . IKZF5 1272 100% . IL10 557 100% . IL10RA 1765 96% . IL10RB 1006 95% . IL11 620 82% . IL11RA 1321 100% . IL12A 790 100% . IL12B 1011 100% Familial Atypical Mycobacteriosis, IL12B‐Related IL12RB1 2196 94% Familial Atypical Mycobacteriosis, IL12RB1‐Related IL12RB2 2696 100% . IL13 457 100% . IL13RA1 1340 93% . IL13RA2 1179 100% . IL15 546 100% . IL15RA 832 89% . IL16 4071 100% . IL17A 480 100% . IL17B 555 100% . IL17C 606 100% . IL17D 617 52% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:270

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IL17F 504 100% . IL17RA 2673 90% . IL17RB 1553 98% . IL17RC 2618 100% . IL17RD 2275 95% . IL17RE 2317 83% . IL17REL 1055 82% . IL18 602 100% . IL18BP 640 100% . IL18R1 1666 100% . IL18RAP 1895 100% . IL19 672 98% . IL1A 840 100% . IL1B 834 100% . IL1F10 561 100% . IL1R1 1791 100% . IL1R2 1233 100% . IL1RAP 2496 100% . IL1RAPL1 2131 100% X‐Linked Mental Retardation 21 IL1RAPL2 2101 100% . IL1RL1 1728 100% . IL1RL2 1784 100% . IL1RN 631 100% Interleukin 1 Deficiency IL2 478 100% . IL20 551 100% . IL20RA 1741 95% . IL20RB 964 100% . IL21 509 100% . IL21R 1650 100% . IL22 560 100% . IL22RA1 1753 100% . IL22RA2 816 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:271

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IL23A 586 100% . IL23R 1930 100% . IL24 648 100% . IL25 555 100% . IL26 536 100% . IL27 752 100% . IL27RA 1967 99% . IL28A 627 100% . IL28B 613 100% . IL28RA 1736 87% . IL29 623 100% . IL2RA 851 100% Interleukin 2 Receptor Alpha Chain Deficiency IL2RB 1707 96% . IL2RG 1249 99% X‐Linked Severe Combined Immunodeficiency IL3 479 100% . IL31 507 100% . IL31RA 2662 100% . IL32 725 100% . IL33 841 100% . IL34 753 96% . IL36A 493 100% . IL36B 732 100% . IL36G 526 100% . IL36RN 484 100% . IL37 748 100% . IL3RA 1192 99% . IL4 478 100% . IL4I1 1815 83% . IL4R 2532 99% . IL5 421 100% . IL5RA 1329 100% . IL6 943 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:272

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IL6R 1450 94% . IL6ST 2817 100% . IL7 558 100% . IL7R 1605 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell ‐Negative, B Cell‐Positive, NK Cell‐Positive, IL7R‐Related IL8 320 100% . IL9 455 100% . IL9R 1729 84% . ILDR1 1767 100% . ILDR2 1960 85% . ILF2 1288 100% . ILF3 2851 100% . ILK 1407 100% . ILKAP 1350 96% . ILVBL 2057 95% . IMMP1L 521 100% . IMMP2L 548 100% . IMMT 2338 98% . IMP3 559 100% . IMP4 925 98% . IMP5 2060 100% . IMPA1 1047 85% . IMPA2 899 89% . IMPACT 1007 96% . IMPAD1 1100 96% . IMPDH1 1906 83% IMPDH1‐Related Leber Congenital Amaurosis IMPDH1 1906 83% IMPDH1‐Related Retinitis Pigmentosa IMPDH1 1906 83% Leber Congenital Amaurosis IMPDH1 1906 83% Retinitis Pigmentosa, Autosomal Dominant IMPDH2 1603 99% . IMPG1 2462 100% . IMPG2 3802 100% . INA 1512 83% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:273

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

INADL 5580 100% . INCA1 735 100% . INCENP 2829 95% . INF2 3878 93% Focal Segmental Glomerulosclerosis 5 ING1 1425 99% . ING2 851 88% . ING3 1354 100% . ING4 782 100% . ING5 796 95% . INHA 1109 97% . INHBA 1289 100% . INHBB 1232 81% . INHBC 1067 100% . INHBE 1061 100% . INMT 804 100% . INO80 4811 100% . INO80B 1120 96% . INO80C 715 84% . INO80D 3120 100% . INO80E 763 84% . INPP1 1220 100% . INPP4A 3215 100% . INPP4B 2867 100% . INPP5A 1374 94% . INPP5B 3262 100% . INPP5D 3648 89% . INPP5E 1975 79% INPP5E‐Related Joubert Syndrome INPP5E 1975 79% Joubert Syndrome INPP5F 3765 95% . INPP5J 3073 97% . INPP5K 1395 98% . INPPL1 3889 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:274

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

INS 410 99% INS‐Related Maturity‐Onset Diabetes of the Young Type 1 INS 410 99% INS‐Related Permanent Neonatal Diabetes Mellitus INS 410 99% Maturity‐Onset Diabetes of the Young Type 1 INS 410 99% Permanent Neonatal Diabetes Mellitus INSC 1792 100% . INSIG1 1017 99% . INSIG2 738 100% . INS‐IGF2 615 75% . INSL3 404 53% . INSL4 428 100% . INSL5 416 100% . INSL6 650 100% . INSM1 1537 74% . INSM2 1705 89% . INSR 4237 96% Diabetes Mellitus, Insulin‐Resistant, with Acanthosis Nigricans INSR 4237 96% Donohue Syndrome INSR 4237 96% Pineal Hyperplasia, Insulin‐Resistant Diabetes Mellitus, and Somatic Abnormalities INSRR 4013 100% . INTS1 7114 92% . INTS10 2201 100% . INTS12 1422 100% . INTS2 3715 100% . INTS3 3446 100% . INTS4 2984 100% . INTS5 3068 97% . INTS6 2805 100% . INTS7 2969 100% . INTS8 3096 96% . INTS9 2045 100% . INTU 2893 100% . INVS 3262 100% Nephronophthisis 2 IP6K1 1346 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:275

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IP6K2 1809 95% . IP6K3 1253 100% . IPCEF1 1382 100% . IPMK 1275 100% . IPO11 3169 96% . IPO13 3023 97% . IPO4 3372 100% . IPO5 3530 100% . IPO7 3217 100% . IPO8 3215 100% . IPO9 3400 100% . IPP 1889 100% . IPPK 1528 99% . IQCA1 2548 98% . IQCB1 1849 100% Senior‐Loken Syndrome IQCB1 1849 100% Senior‐Loken Syndrome 5 IQCC 1421 100% . IQCD 1313 100% . IQCE 2278 98% . IQCF1 634 100% . IQCF2 507 100% . IQCF3 477 100% . IQCF5 455 100% . IQCF6 377 100% . IQCG 1417 100% . IQCH 3296 96% . IQCJ 548 100% . IQCJ‐SCHIP1 1848 91% . IQCK 935 100% . IQGAP1 5126 100% . IQGAP2 4872 100% . IQGAP3 5048 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:276

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IQSEC1 3654 91% . IQSEC2 4658 72% . IQSEC3 3684 95% . IQUB 2424 100% . IRAK1 2420 95% . IRAK1BP1 799 100% . IRAK2 1930 100% . IRAK3 1839 93% . IRAK4 1427 100% IRAK4 Deficiency IREB2 2980 100% . IRF1 1014 100% . IRF2 1108 100% . IRF2BP1 1759 98% . IRF2BP2 1772 82% . IRF2BPL 2395 90% . IRF3 1388 97% . IRF4 1394 94% . IRF5 1617 100% . IRF6 1432 100% Cleft Lip +/‐ Cleft Palate IRF6 1432 100% IRF6‐Related Disorders IRF6 1432 100% Popliteal Pterygium Syndrome IRF6 1432 100% IRF7 1611 90% . IRF8 1313 100% . IRF9 1214 100% . IRGC 1396 100% . IRGM 550 0% . IRGQ 1880 99% . IRS1 3733 100% . IRS2 4025 68% . IRS4 3778 100% . IRX1 1459 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:277

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

IRX2 1432 81% . IRX3 1522 64% . IRX4 1618 65% . IRX5 1464 86% . IRX6 1365 100% . ISCA1 547 63% . ISCA2 481 87% . ISCU 567 93% Myopathy with Deficiency of ISCU ISG15 506 100% . ISG20 558 100% . ISG20L2 1074 100% . ISL1 1075 100% . ISL2 1104 99% . ISLR 1291 100% . ISLR2 2242 100% . ISM1 1419 91% . ISM2 1951 82% . ISOC1 917 98% . ISOC2 686 100% . ISPD 1396 81% . IST1 1152 100% . ISX 754 100% . ISY1 977 92% . ISY1‐RAB43 1095 99% . ISYNA1 1717 95% . ITCH 2681 100% . ITFG1 1911 99% . ITFG2 1392 100% . ITFG3 1703 100% . ITGA1 3656 98% . ITGA10 3624 99% . ITGA11 3690 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:278

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ITGA2 3707 100% Glycoprotein 1a Deficiency ITGA2B 3375 96% Thrombasthenia of Glanzmann and Naegeli, ITGA2B‐Related ITGA3 3583 98% . ITGA4 3211 100% . ITGA5 3270 100% . ITGA6 3488 100% Epidermolysis Bullosa with Pyloric Atresia ITGA6 3488 100% ITGA6‐Related Epidermolysis Bullosa with Pyloric Atresia ITGA7 3785 96% Congenital Muscular Dystrophy with Alpha 7 ITGA8 3312 99% . ITGA9 3280 95% . ITGAD 3750 99% . ITGAE 3664 100% . ITGAL 3637 100% . ITGAM 3579 100% . ITGAV 3348 100% . ITGAX 3612 100% . ITGB1 2584 100% . ITGB1BP1 651 100% . ITGB1BP2 1088 100% . ITGB1BP3 721 93% . ITGB2 2370 100% Leukocyte Adhesion Deficiency, Type 1 ITGB3 2469 97% Thrombasthenia of Glanzmann and Naegeli, ITGB3‐Related ITGB3BP 689 82% . ITGB4 5825 98% Epidermolysis Bullosa with Pyloric Atresia ITGB4 5825 98% ITGB4‐Related Epidermolysis Bullosa with Pyloric Atresia ITGB5 2460 97% . ITGB6 2427 100% . ITGB7 2453 96% . ITGB8 2366 100% . ITGBL1 1532 95% . ITIH1 2931 100% . ITIH2 2925 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:279

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ITIH3 2771 100% . ITIH4 2946 100% . ITIH5 3022 100% . ITIH6 3994 100% . ITK 2066 100% Lymphoproliferative Syndrome, EBV‐Associated, Autosomal, 1 ITLN1 970 100% . ITLN2 1010 100% . ITM2A 816 99% . ITM2B 825 94% . ITM2C 828 96% . ITPA 617 100% . ITPK1 1333 91% . ITPKA 1414 68% . ITPKB 2869 100% . ITPKC 2080 93% . ITPR1 8544 100% Spinocerebellar Ataxia Type15 ITPR2 8342 100% . ITPR3 8248 100% . ITPRIP 1648 100% . ITPRIPL1 1710 100% . ITPRIPL2 1612 97% . ITSN1 5331 100% . ITSN2 5305 100% . IVD 1329 100% IVL 1762 70% . IVNS1ABP 2035 100% . IWS1 2516 100% . IYD 1123 100% Congenital Hypothyroidism IYD 1123 100% Congenital Hypothyroidism, IYD‐Related IZUMO1 1089 100% . IZUMO2 733 99% . IZUMO4 880 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:280

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

JAG1 3761 98% Alagille Syndrome JAG1 3761 98% Isolated Nonsyndromic Congenital Heart Disease/Defects JAG1 3761 98% JAG1‐Related Alagille Syndrome JAG2 3821 88% . JAGN1 560 100% . JAK1 3561 100% . JAK2 3491 100% Budd‐Chiari Syndrome JAK2 3491 100% JAK2‐Related Budd‐Chiari Syndrome JAK3 3554 91% Severe Combined Immune Deficiency, Autosomal Recessive, ‐Negative, B Cell ‐Positive, NK Cell‐Negative, JAK3‐Related JAKMIP1 2651 97% . JAKMIP2 2513 100% . JAKMIP3 2641 100% . JAM2 941 99% . JAM3 1104 97% . JARID2 3813 100% . JAZF1 827 100% . JDP2 541 97% . JHDM1D 2906 100% . JKAMP 1028 100% . JMJD1C 7733 100% . JMJD4 1504 92% . JMJD5 1397 94% . JMJD6 1279 100% . JMJD7 1033 99% . JMJD7‐PLA2G4B 3189 100% . JMJD8 1041 70% . JMY 3007 80% . JOSD1 627 100% . JOSD2 583 95% . JPH1 2006 100% . JPH2 2126 74% . JPH3 2267 90% Huntington Disease‐Like 2 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:281

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

JPH4 1911 65% . JRK 3 0% . JRKL 1579 84% . JSRP1 1020 81% . JTB 495 100% . JUN 1000 100% . JUNB 1048 94% . JUND 1048 61% . JUP 2290 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant JUP 2290 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12 JUP 2290 100% Naxos Disease KAAG1 441 100% . KAL1 2099 95% Kallmann Syndrome KAL1 2099 95% Kallmann Syndrome 1 KALRN 9730 100% . KANK1 4243 100% . KANK2 2624 100% . KANK3 2672 54% . KANK4 3024 100% . KANSL2 1515 100% . KANSL3 2767 100% . KARS 2000 100% . KAT2A 2586 92% . KAT2B 2571 95% . KAT5 1693 100% . KAT6A 6079 100% . KAT6B 6286 100% . KAT7 1896 100% . KAT8 1513 86% . KATNA1 1516 100% . KATNAL1 1513 100% . KATNAL2 1555 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:282

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KATNB1 2294 97% . KAZALD1 931 100% . KAZN 2644 92% . KBTBD10 1845 100% . KBTBD11 1876 15% . KBTBD12 1892 100% . KBTBD13 1381 50% . KBTBD2 1884 100% . KBTBD3 1847 100% . KBTBD4 1621 100% . KBTBD5 1890 100% . KBTBD6 2029 100% . KBTBD7 2059 100% . KBTBD8 1822 99% . KCMF1 1177 99% . KCNA1 1492 100% Episodic Ataxia Type 1 KCNA10 1540 100% . KCNA2 1689 100% . KCNA3 1732 97% . KCNA4 1966 100% . KCNA5 1846 93% Familial Atrial Fibrillation KCNA6 1594 100% . KCNA7 1379 96% . KCNAB1 1791 100% . KCNAB2 1615 69% . KCNAB3 1271 89% . KCNB1 2585 98% . KCNB2 2744 100% . KCNC1 1806 85% . KCNC2 1999 100% . KCNC3 2290 68% Spinocerebellar Ataxia Type13 KCNC4 2124 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:283

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KCND1 2048 99% . KCND2 1917 100% . KCND3 1996 99% . KCNE1 394 100% Jervell and Lange‐Nielsen Syndrome KCNE1 394 100% Long QT Syndrome 5 KCNE1 394 100% Romano‐Ward Syndrome KCNE1L 433 89% . KCNE2 376 100% Familial Atrial Fibrillation KCNE2 376 100% KCNE2‐Related Familial Atrial Fibrillation KCNE2 376 100% Long QT Syndrome 6 KCNE2 376 100% Romano‐Ward Syndrome KCNE3 316 100% Brugada Syndrome 6 KCNE3 316 100% KCNE3‐Related Hypokalemic Periodic Paralysis KCNE4 517 100% . KCNF1 1489 99% . KCNG1 1604 99% . KCNG2 1409 91% . KCNG3 1319 93% . KCNG4 1583 100% . KCNH1 3014 100% . KCNH2 3921 81% Long QT Syndrome 2 KCNH2 3921 81% Romano‐Ward Syndrome KCNH2 3921 81% Short QT Syndrome KCNH2 3921 81% Short QT Syndrome 1 KCNH3 3312 100% . KCNH4 3118 96% . KCNH5 3119 100% . KCNH6 3041 100% . KCNH7 3722 100% . KCNH8 3388 100% . KCNIP1 887 100% . KCNIP2 1222 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:284

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KCNIP3 914 99% . KCNIP4 920 100% . KCNJ1 1184 100% Antenatal Bartter Syndrome Type 2 KCNJ10 1144 100% Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome KCNJ11 1177 100% Diabetes Mellitus, KCNJ11‐Related Transient Neonatal KCNJ11 1177 100% Familial Hyperinsulinism KCNJ11 1177 100% KCNJ11‐Related Hyperinsulinism KCNJ11 1177 100% KCNJ11‐Related Permanent Neonatal Diabetes Mellitus KCNJ11 1177 100% Permanent Neonatal Diabetes Mellitus KCNJ12 1306 100% . KCNJ13 1091 100% . KCNJ14 1319 82% . KCNJ15 1132 100% . KCNJ16 1261 100% . KCNJ18 1306 100% . KCNJ2 1288 100% Andersen Syndrome Type 1 KCNJ2 1288 100% Andersen‐Tawil Syndrome KCNJ2 1288 100% Short QT Syndrome KCNJ2 1288 100% Short QT Syndrome 3 KCNJ3 1518 100% . KCNJ4 1342 100% . KCNJ5 1268 100% . KCNJ6 1284 100% . KCNJ8 1283 100% . KCNJ9 1190 94% . KCNK1 1023 100% . KCNK10 1757 100% . KCNK12 1301 58% . KCNK13 1235 81% . KCNK15 1001 88% . KCNK16 1339 94% . KCNK17 1185 82% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:285

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KCNK18 1167 100% . KCNK2 1352 100% . KCNK3 1193 92% . KCNK4 1394 81% . KCNK5 1520 99% . KCNK6 954 90% . KCNK7 1037 100% . KCNK9 1133 100% . KCNMA1 4149 100% Generalized Epilepsy and Paroxysmal Dyskinesia KCNMB1 588 100% . KCNMB2 724 100% . KCNMB3 1057 100% . KCNMB4 645 100% . KCNN1 1719 99% . KCNN2 1777 100% . KCNN3 2251 100% . KCNN4 1316 100% . KCNQ1 2095 92% Beckwith‐Wiedemann Syndrome KCNQ1 2095 92% Familial Atrial Fibrillation KCNQ1 2095 92% Jervell and Lange‐Nielsen Syndrome KCNQ1 2095 92% KCNQ1‐Related Familial Atrial Fibrillation KCNQ1 2095 92% Long QT Syndrome 1 KCNQ1 2095 92% Romano‐Ward Syndrome KCNQ1 2095 92% Short QT Syndrome KCNQ1 2095 92% Short QT Syndrome 2 KCNQ2 3014 94% Benign Familial Neonatal Seizures KCNQ2 3014 94% Benign Neonatal Epilepsy 1 KCNQ3 2773 95% Benign Familial Neonatal Seizures KCNQ3 2773 95% Benign Neonatal Epilepsy 2 KCNQ4 2144 92% DFNA 2 Nonsyndromic Hearing Loss KCNQ4 2144 92% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant KCNQ5 3035 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:286

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KCNRG 929 89% . KCNS1 1593 86% . KCNS2 1438 100% . KCNS3 1480 100% . KCNT1 3841 91% . KCNT2 3594 100% . KCNU1 3558 100% . KCNV1 1515 92% . KCNV2 1646 100% Retinal Cone Dystrophy 3B KCP 42 0% . KCTD1 2618 34% . KCTD10 1023 100% . KCTD11 703 100% . KCTD12 982 92% . KCTD13 1014 100% . KCTD14 776 100% . KCTD15 888 77% . KCTD16 1295 100% . KCTD17 926 79% . KCTD18 1349 100% . KCTD19 2845 100% . KCTD2 881 79% . KCTD20 1288 100% . KCTD21 787 100% . KCTD3 2520 97% . KCTD4 784 100% . KCTD5 729 84% . KCTD6 722 100% . KCTD7 891 97% Progressive Myoclonic Epilepsy 3 KCTD8 1430 100% . KCTD9 1234 100% . KDELC1 1549 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:287

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KDELC2 1590 89% . KDELR1 659 84% . KDELR2 834 100% . KDELR3 724 100% . KDM1A 2715 93% . KDM1B 1840 100% . KDM2A 3735 96% . KDM2B 4210 100% . KDM3A 4110 100% . KDM3B 5382 96% . KDM4A 3279 100% . KDM4B 3375 93% . KDM4C 3428 100% . KDM4D 1576 100% . KDM4DL 1525 64% . KDM5A 5200 100% . KDM5B 4743 100% . KDM5C 4788 99% KDM5C‐Related X‐Linked Mental Retardation KDM5D 4725 100% . KDM6A 4322 99% . KDM6B 5125 96% . KDR 4191 100% . KDSR 1039 100% . KEAP1 1895 100% . KEL 2275 100% . KERA 1067 100% . KHDC1 734 100% . KHDC1L 412 100% . KHDRBS1 1368 90% . KHDRBS2 1086 100% . KHDRBS3 1077 99% . KHK 1068 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:288

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KHNYN 2065 100% . KHSRP 2216 84% . KIAA0020 2015 100% . KIAA0040 1 0% . KIAA0090 3082 100% . KIAA0100 6864 100% . KIAA0101 377 100% . KIAA0141 1596 100% . KIAA0146 2828 82% . KIAA0182 3725 95% . KIAA0195 4295 100% . KIAA0196 3607 100% Spastic Paraplegia 8 KIAA0226 3140 98% . KIAA0226L 2118 100% . KIAA0232 4220 100% . KIAA0240 3284 100% . KIAA0247 932 100% . KIAA0284 4847 92% . KIAA0317 2544 100% . KIAA0319 3331 99% . KIAA0319L 3282 100% . KIAA0355 3265 99% . KIAA0368 6258 96% . KIAA0391 1780 100% . KIAA0408 2105 100% . KIAA0415 2610 97% . KIAA0430 5337 100% . KIAA0494 1532 100% . KIAA0513 1284 100% . KIAA0528 3099 100% . KIAA0556 4969 100% . KIAA0564 5902 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:289

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KIAA0586 5072 95% . KIAA0664 4034 97% . KIAA0748 1603 100% . KIAA0753 2976 99% . KIAA0754 1 0% . KIAA0825 4070 89% . KIAA0889 5108 84% . KIAA0895 1998 100% . KIAA0895L 1822 69% . KIAA0907 1951 100% . KIAA0913 6320 98% . KIAA0922 4973 97% . KIAA0930 1338 92% . KIAA0947 6877 99% . KIAA1009 4320 100% . KIAA1024 2763 100% . KIAA1033 3654 98% . KIAA1045 1231 100% . KIAA1107 4106 100% . KIAA1109 15411 100% . KIAA1143 477 100% . KIAA1147 1404 81% . KIAA1161 2047 100% . KIAA1191 946 100% . KIAA1199 4198 100% . KIAA1210 5186 100% . KIAA1211 3734 96% . KIAA1217 5931 100% . KIAA1239 5257 100% . KIAA1244 6670 100% . KIAA1257 1258 100% . KIAA1267 3389 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:290

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KIAA1274 2647 99% . KIAA1279 1894 100% Goldberg‐Shprintzen Megacolon Syndrome KIAA1324 3130 100% . KIAA1324L 3180 91% . KIAA1328 1774 97% . KIAA1377 3398 100% . KIAA1383 3148 100% . KIAA1407 2952 100% . KIAA1429 5656 100% . KIAA1430 1615 100% . KIAA1432 4450 97% . KIAA1456 1377 100% . KIAA1462 4092 100% . KIAA1467 1921 98% . KIAA1468 3767 100% . KIAA1522 3375 91% . KIAA1524 2802 100% . KIAA1530 2182 100% . KIAA1549 6007 97% . KIAA1586 2380 92% . KIAA1598 1964 100% . KIAA1609 1399 100% . KIAA1614 3609 98% . KIAA1644 858 100% . KIAA1671 5461 18% . KIAA1683 4583 100% . KIAA1704 1075 100% . KIAA1715 1340 100% . KIAA1731 7925 100% . KIAA1737 1212 100% . KIAA1751 2437 100% . KIAA1755 3659 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:291

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KIAA1797 5578 100% . KIAA1804 3202 85% . KIAA1826 1046 100% . KIAA1841 2337 100% . KIAA1919 1573 100% . KIAA1958 2163 100% . KIAA1967 2852 98% . KIAA1984 2033 93% . KIAA2013 2034 78% . KIAA2018 6758 100% . KIAA2022 4563 100% KIAA2022‐Related X‐linked Mental Retardation KIAA2026 6344 100% . KIDINS220 5435 100% . KIF11 3259 100% . KIF12 1637 93% . KIF13A 5686 99% . KIF13B 5641 96% . KIF14 5063 100% . KIF15 4309 100% . KIF16B 4743 100% . KIF17 3314 98% . KIF18A 2761 100% . KIF18B 2703 100% . KIF19 3739 88% . KIF1A 5573 98% . KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2 KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2A KIF1B 7064 100% Charcot‐Marie‐Tooth Neuropathy Type 2A1 KIF1B 7064 100% KIF1B‐Related Neuroblastoma, Susceptibility KIF1B 7064 100% Neuroblastoma, Susceptibility KIF1C 3396 100% . KIF20A 2745 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:292

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KIF20B 5682 100% . KIF21A 5180 99% Congenital Fibrosis of the Extraocular Muscles KIF21A 5180 99% KIF21A‐Related Congenital Fibrosis of the Extraocular Muscles KIF21B 5013 99% . KIF22 2054 99% . KIF23 2975 100% . KIF24 4155 100% . KIF25 1187 88% . KIF26A 5709 85% . KIF26B 6387 92% . KIF27 4319 100% . KIF2A 2327 97% . KIF2B 2026 100% . KIF2C 2302 100% . KIF3A 2169 100% . KIF3B 2276 100% . KIF3C 2414 100% . KIF4A 3819 100% . KIF4B 3709 100% . KIF5A 3211 100% Spastic Paraplegia 10 KIF5B 2992 100% . KIF5C 3046 97% . KIF6 2588 98% . KIF7 4207 87% . KIF9 2492 100% . KIFAP3 2460 100% . KIFC1 2088 99% . KIFC2 2669 88% . KIFC3 2583 96% . KIN 1234 100% . KIR2DL1 1079 93% . KIR2DL2 8 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:293

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KIR2DL3 1058 90% . KIR2DL4 1242 56% . KIR2DL5A 8 0% . KIR2DL5B 8 0% . KIR2DS1 8 0% . KIR2DS2 8 0% . KIR2DS3 8 0% . KIR2DS4 746 80% . KIR2DS5 8 0% . KIR3DL1 1371 79% . KIR3DL2 1404 73% . KIR3DL3 1265 56% . KIR3DS1 8 0% . KIRREL 2382 99% . KIRREL2 2231 100% . KIRREL3 2738 99% . KISS1 447 95% . KISS1R 1217 54% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency KISS1R 1217 54% KISS1R‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency KIT 3015 100% Gastrointestinal Stromal Tumor KIT 3015 100% Piebald Trait, KIT‐Related KITLG 858 100% . KL 3110 95% . KLB 3155 100% . KLC1 1955 98% . KLC2 2127 100% . KLC3 1563 92% . KLC4 2187 100% . KLF1 1101 66% . KLF10 1466 100% . KLF11 1555 97% Maturity‐Onset Diabetes of the Young Type 7 KLF12 1245 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:294

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KLF13 875 54% . KLF14 976 59% . KLF15 1259 99% . KLF16 767 42% . KLF17 1182 100% . KLF2 1080 48% . KLF3 1062 100% . 1460 91% . KLF5 1390 82% . KLF6 1038 100% . KLF7 925 100% . KLF8 1104 100% . KLF9 743 100% . KLHDC1 1273 100% . KLHDC10 1369 98% . KLHDC2 1273 100% . KLHDC3 1266 94% . KLHDC4 1608 95% . KLHDC5 1530 95% . KLHDC7A 2338 100% . KLHDC7B 1789 87% . KLHDC8A 1073 100% . KLHDC8B 1085 100% . KLHDC9 1085 98% . KLHL1 2291 100% . KLHL10 1891 100% . KLHL11 2135 99% . KLHL12 1796 98% . KLHL13 2000 100% . KLHL14 1919 100% . KLHL15 1823 100% . KLHL17 2202 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:295

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KLHL18 1821 99% . KLHL2 1884 96% . KLHL20 1874 100% . KLHL21 1930 66% . KLHL22 2009 100% . KLHL23 1689 100% . KLHL24 1839 100% . KLHL25 1774 100% . KLHL26 1889 95% . KLHL28 1732 100% . KLHL29 2680 98% . KLHL3 1831 100% . KLHL30 1765 97% . KLHL31 1913 100% . KLHL32 1903 100% . KLHL33 1614 100% . KLHL34 1939 94% . KLHL35 1776 55% . KLHL36 2044 99% . KLHL38 1758 100% . KLHL4 2271 100% . KLHL5 2375 100% . KLHL6 1894 100% . KLHL7 1868 100% KLHL7‐Related Retinitis Pigmentosa KLHL8 1899 100% . KLHL9 1858 100% . KLK1 877 100% . KLK10 851 95% . KLK11 948 99% . KLK12 829 99% . KLK13 854 95% . KLK14 828 82% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:296

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KLK15 791 94% . KLK2 843 99% . KLK3 951 100% . KLK4 864 94% Amelogenesis Imperfecta, Hypomaturation Type, IIA1 KLK5 902 100% . KLK6 768 100% . KLK7 783 100% . KLK8 938 100% . KLK9 773 99% . KLKB1 1973 100% . KLLN 541 0% . KLRB1 702 100% . KLRC1 726 100% . KLRC2 720 97% . KLRC3 847 87% . KLRC4 493 100% . KLRC4‐KLRK1 680 100% . KLRD1 567 100% . KLRF1 723 100% . KLRF2 6 0% . KLRG1 590 100% . KLRG2 1317 67% . KLRK1 680 100% . KMO 1521 100% . KNCN 318 99% . KNDC1 6225 81% . KNG1 2060 100% . KNTC1 6882 99% . KPNA1 1669 100% . KPNA2 1630 100% . KPNA3 1634 100% . KPNA4 1634 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:297

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KPNA5 1676 100% . KPNA6 1667 100% . KPNA7 1591 100% . KPNB1 2719 100% . KPRP 1744 100% . KPTN 1359 91% . KRAS 707 100% Cardiofaciocutaneous Syndrome KRAS 707 100% KRAS‐Related Cardiofaciocutaneous Syndrome KRAS 707 100% KRAS‐Related KRAS 707 100% Noonan Syndrome KRBA1 3484 95% . KRBA2 1487 100% . KRBOX1 403 100% . KRCC1 784 100% . KREMEN1 1531 93% . KREMEN2 1598 52% . KRI1 2306 93% . KRIT1 2277 100% Corporis Diffusum with Arteriovenous Fistulas KRIT1 2277 100% Familial Cerebral Cavernous Malformation KRIT1 2277 100% Familial Cerebral Cavernous Malformation 1 KRR1 1186 100% . KRT1 1971 100% KRT1‐Related Epidermolytic KRT1 1971 100% Nonepidermolytic Palmoplantar Hyperkeratosis KRT10 1787 99% KRT10‐Related Epidermolytic Hyperkeratosis KRT12 1517 100% . KRT13 1409 97% White of Cannon, KRT13‐Related KRT14 1451 97% Epidermolysis Bullosa Simplex KRT14 1451 97% Epidermolysis Bullosa Simplex, Dowling‐Meara Type KRT14 1451 97% Epidermolysis Bullosa Simplex, Koebner Type KRT14 1451 97% Epidermolysis Bullosa Simplex, Weber‐Cockayne Type KRT15 1427 100% . KRT16 1454 100% Nonepidermolytic Palmoplantar Hyperkeratosis UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:298

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KRT16 1454 100% KRT16 1454 100% Pachyonychia Congenita Type 1 KRT17 1331 100% Pachyonychia Congenita KRT17 1331 100% Pachyonychia Congenita Type 2 KRT17 1331 100% KRT18 1321 100% . KRT19 1227 100% . KRT2 1956 100% Ichthyosis Bullosa of Siemens KRT20 1307 100% . KRT222 912 100% . KRT23 1301 100% . KRT24 1610 100% . KRT25 1385 100% . KRT26 1439 100% . KRT27 1412 100% . KRT28 1427 100% . KRT3 1926 87% . KRT31 1285 100% . KRT32 1375 100% . KRT33A 1243 100% . KRT33B 1246 100% . KRT34 1339 100% . KRT35 1396 100% . KRT36 1432 100% . KRT37 1378 100% . KRT38 1399 100% . KRT39 1504 100% . KRT4 1821 100% of Cannon, KRT4‐Related KRT40 1324 100% . KRT5 1809 100% Epidermolysis Bullosa Simplex KRT5 1809 100% Epidermolysis Bullosa Simplex with Mottled Pigmentation KRT5 1809 100% Epidermolysis Bullosa Simplex, Dowling‐Meara Type UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:299

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KRT5 1809 100% Epidermolysis Bullosa Simplex, Koebner Type KRT5 1809 100% Epidermolysis Bullosa Simplex, Weber‐Cockayne Type KRT6A 1731 100% Pachyonychia Congenita KRT6A 1731 100% Pachyonychia Congenita Type 1 KRT6B 1731 100% Pachyonychia Congenita KRT6B 1731 100% Pachyonychia Congenita Type 2 KRT6C 1731 97% . KRT7 1446 100% . KRT71 1608 100% . KRT72 1572 92% . KRT73 1695 100% . KRT74 1626 100% . KRT75 1854 99% . KRT76 1953 98% . KRT77 1773 99% . KRT78 1599 100% . KRT79 1644 100% . KRT8 1485 100% . KRT80 1430 99% . KRT81 1554 69% KRT82 1578 100% . KRT83 1518 100% Monilethrix KRT84 1839 94% . KRT85 1560 100% . KRT86 1497 77% Monilethrix KRT9 1900 100% Epidermolytic KRTAP10‐1 853 100% . KRTAP10‐10 760 100% . KRTAP10‐11 901 100% . KRTAP10‐12 742 100% . KRTAP10‐2 772 100% . KRTAP10‐3 670 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:300

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KRTAP10‐4 1222 100% . KRTAP10‐5 820 100% . KRTAP10‐6 1102 100% . KRTAP10‐7 1132 100% . KRTAP10‐8 784 100% . KRTAP10‐9 883 100% . KRTAP1‐1 538 100% . KRTAP11‐1 496 100% . KRTAP12‐1 295 100% . KRTAP12‐2 445 100% . KRTAP12‐3 295 100% . KRTAP12‐4 343 99% . KRTAP1‐3 508 100% . KRTAP13‐1 523 100% . KRTAP13‐2 532 100% . KRTAP13‐3 523 100% . KRTAP13‐4 487 100% . KRTAP1‐5 529 100% . KRTAP15‐1 418 100% . KRTAP16‐1 1558 100% . KRTAP17‐1 322 100% . KRTAP19‐1 277 100% . KRTAP19‐2 163 100% . KRTAP19‐3 250 100% . KRTAP19‐4 259 100% . KRTAP19‐5 223 100% . KRTAP19‐6 181 99% . KRTAP19‐7 196 100% . KRTAP19‐8 196 100% . KRTAP20‐1 175 100% . KRTAP20‐2 202 100% . KRTAP20‐3 139 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:301

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KRTAP2‐1 391 15% . KRTAP21‐1 244 100% . KRTAP21‐2 256 100% . KRTAP21‐3 181 100% . KRTAP2‐2 376 5% . KRTAP22‐1 151 100% . KRTAP22‐2 142 100% . KRTAP23‐1 202 100% . KRTAP2‐4 391 23% . KRTAP24‐1 769 100% . KRTAP25‐1 313 100% . KRTAP26‐1 637 100% . KRTAP27‐1 628 100% . KRTAP3‐1 301 100% . KRTAP3‐2 301 100% . KRTAP3‐3 301 100% . KRTAP4‐1 445 92% . KRTAP4‐11 592 100% . KRTAP4‐12 610 100% . KRTAP4‐2 415 100% . KRTAP4‐3 592 100% . KRTAP4‐4 505 100% . KRTAP4‐5 550 100% . KRTAP4‐6 622 100% . KRTAP4‐7 472 100% . KRTAP4‐8 562 100% . KRTAP4‐9 637 100% . KRTAP5‐1 841 100% . KRTAP5‐10 613 100% . KRTAP5‐11 475 100% . KRTAP5‐2 787 100% . KRTAP5‐3 721 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:302

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

KRTAP5‐4 691 100% . KRTAP5‐5 718 96% . KRTAP5‐6 394 100% . KRTAP5‐7 502 100% . KRTAP5‐8 568 100% . KRTAP5‐9 40 100% . KRTAP6‐1 220 100% . KRTAP6‐2 193 100% . KRTAP6‐3 316 100% . KRTAP7‐120% . KRTAP8‐1 196 100% . KRTAP9‐1 757 100% . KRTAP9‐2 529 100% . KRTAP9‐3 484 100% . KRTAP9‐4 469 100% . KRTAP9‐8 484 100% . KRTAP9‐9 514 100% . KRTCAP2 509 99% . KRTCAP3 747 97% . KRTDAP 324 100% . KSR1 2607 100% . KSR2 2933 100% . KTI12 1069 100% . KTN1 4255 100% . KXD1 547 100% . KY 2275 100% . KYNU 1476 100% . L1CAM 3887 100% Syndrome L1TD1 2606 65% . L2HGDH 1432 99% L‐2‐Hydroxyglutaric Aciduria L3MBTL1 2889 99% . L3MBTL2 2266 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:303

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

L3MBTL3 2427 100% . L3MBTL4 1944 100% . LACC1 1313 100% . LACE1 1499 100% . LACRT 437 100% . LACTB 1672 83% . LACTB2 895 100% . LAD1 1594 98% . LAG3 1636 86% . LAGE3 448 81% . LAIR1 946 100% . LAIR2 479 100% . LALBA 445 100% . LAMA1 9684 100% . LAMA2 9644 99% Laminin Alpha‐2 Deficiency LAMA3 10481 97% Junctional Epidermolysis Bullosa LAMA3 10481 97% LAMA3‐Related Junctional Epidermolysis Bullosa LAMA4 5792 100% . LAMA5 11408 92% . LAMB1 5697 100% . LAMB2 5525 100% Pierson Syndrome LAMB3 3607 100% Junctional Epidermolysis Bullosa LAMB3 3607 100% LAMB3‐Related Junctional Epidermolysis Bullosa LAMB4 5632 100% . LAMC1 4942 100% . LAMC2 3682 100% Junctional Epidermolysis Bullosa LAMC2 3682 100% LAMC2‐Related Junctional Epidermolysis Bullosa LAMC3 4889 91% . LAMP1 1290 95% . LAMP2 1560 100% LAMP2 1560 100% LAMP2‐Related Familial Hypertrophic Cardiomyopathy LAMP3 1275 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:304

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LAMP5 867 100% . LAMTOR1 506 78% . LAMTOR2 469 100% . LAMTOR3 399 100% . LANCL1 1237 100% . LANCL2 1389 96% . LANCL3 1351 80% . LAP3 1612 99% . LAPTM4A 730 100% . LAPTM4B 1122 99% . LAPTM5 821 100% . LARGE 2327 100% LARGE‐Related Muscle Diseases LARGE 2327 100% LARGE‐Related Walker‐Warburg Syndrome LARGE 2327 100% Walker‐Warburg Syndrome LARP1 3136 100% . LARP1B 2951 100% . LARP4 2261 100% . LARP4B 2477 100% . LARP6 1574 87% . LARP7 1838 100% . LARS 3659 100% . LARS2 2792 100% . LAS1L 2261 94% . LASP1 1120 63% . LAT 941 93% . LAT2 776 98% . LATS1 3421 100% . LATS2 3295 94% . LAX1 1262 100% . LAYN 1153 92% . LBH 334 100% . LBP 1506 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:305

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LBR 1950 100% Greenberg Dysplasia LBX1 854 97% . LBX2 593 100% . LCA5 2122 100% LCA5‐Related Leber Congenital Amaurosis LCA5 2122 100% Leber Congenital Amaurosis LCA5L 2042 100% . LCAT 1347 90% Cholesterol Acyltransferase Deficiency LCE1A 337 100% . LCE1B 361 100% . LCE1C 361 100% . LCE1D 349 100% . LCE1E 361 100% . LCE1F 361 100% . LCE2A 325 100% . LCE2B 337 100% . LCE2C 337 100% . LCE2D 337 100% . LCE3A 274 100% . LCE3B 292 53% . LCE3C 289 53% . LCE3D 283 100% . LCE3E 283 100% . LCE4A 304 100% . LCE5A 361 100% . LCE6A 247 100% . 1970 100% . LCLAT1 1274 100% . LCMT1 1057 100% . LCMT2 2065 100% . LCN1 556 100% . LCN10 698 99% . LCN12 603 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:306

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LCN15 579 90% . LCN2 621 100% . LCN6 512 100% . LCN8 1423 69% . LCN9 594 99% . LCNL1 1032 96% . LCOR 1315 100% . LCORL 2022 96% . LCP1 1944 100% . LCP2 1686 95% . LCT 5855 100% Lactose Intolerance, Adult Type LCTL 1756 100% . LDB1 1334 98% . LDB2 1263 100% . LDB3 2572 100% Dilated Cardiomyopathy LDB3 2572 100% LDB3‐Related Dilated Cardiomyopathy LDB3 2572 100% Myofibrillar Myopathy LDB3 2572 100% Zaspopathy LDHA 1123 100% Glycogen Storage Disease XI LDHAL6A 1027 100% . LDHAL6B 1150 100% . LDHB 1033 100% B Deficiency LDHC 1027 100% . LDHD 1568 92% . LDLR 2655 100% Familial Hypercholesterolemia LDLRAD1 706 92% . LDLRAD2 839 96% . LDLRAD3 1062 95% . LDLRAP1 963 90% Familial Hypercholesterolemia, Autosomal Recessive LDOC1 445 100% . LDOC1L 724 100% . LEAP2 246 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:307

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LECT1 1214 91% . LECT2 655 100% . LEF1 1427 99% . LEFTY1 1117 94% . LEFTY2 1117 99% Heterotaxy Syndrome LEKR1 2133 56% . LELP1 301 100% . LEMD1 566 100% . LEMD2 1552 79% . LEMD3 2788 89% Buschke‐Ollendorff Syndrome LENEP 190 100% . LENG1 811 100% . LENG8 2848 97% . LENG9 1510 75% . LEO1 2049 100% . LEP 512 100% Deficiency LEP 512 100% Monogenic Non‐Syndromic Obesity, Autosomal Recessive LEPR 3852 95% Deficiency LEPR 3852 95% Monogenic Non‐Syndromic Obesity, Autosomal Recessive LEPRE1 2631 100% LEPRE1‐Related Osteogenesis Imperfecta LEPREL1 2187 89% . LEPREL2 2314 78% . LEPREL4 1346 93% . LEPROT 414 99% . LEPROTL1 647 61% . LETM1 2276 96% . LETM2 1465 100% . LETMD1 1158 100% . LEUTX 598 97% . LFNG 1465 85% LFNG‐Related Spondylocostal Dysostosis, Autosomal Recessive LFNG 1465 85% Spondylocostal Dysostosis LFNG 1465 85% Spondylocostal Dysostosis, Autosomal Recessive UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:308

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LGALS1 554 98% . LGALS12 1072 100% . LGALS13 436 100% . LGALS14 542 100% . LGALS16 4 0% . LGALS2 415 100% . LGALS3 1050 98% . LGALS3BP 1778 100% . LGALS4 1012 100% . LGALS7 427 17% . LGALS7B 427 48% . LGALS8 1306 100% . LGALS9 1112 100% . LGALS9B 1115 80% . LGALS9C 1115 87% . LGALSL 559 96% . LGI1 1706 100% Autosomal Dominant Partial Epilepsy with Auditory Features LGI2 1670 95% . LGI3 1679 97% . LGI4 1723 79% . LGMN 1410 100% . LGR4 2932 94% . LGR5 2796 100% . LGR6 3137 98% . LGSN 1559 100% . LHB 487 100% . LHCGR 2144 92% Hypergonadotropic Hypogonadism LHCGR 2144 92% /Agenesis LHCGR 2144 92% LH Receptor Defects LHCGR 2144 92% Male‐Limited Precocious Puberty LHFP 615 100% . LHFPL1 675 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:309

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LHFPL2 695 100% . LHFPL3 723 100% . LHFPL4 756 100% . LHFPL5 672 100% DFNB67 Nonsyndromic Hearing Loss and Deafness LHFPL5 672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LHPP 841 86% . LHX1 1514 85% . LHX2 1265 90% . LHX3 1316 87% LHX3‐Related Combined Pituitary Hormone Deficiency LHX4 1197 100% LHX4‐Related Combined Pituitary Hormone Deficiency LHX5 1229 75% . LHX6 1279 80% . LHX8 1107 92% . LHX9 1246 100% . LIAS 1163 100% . LIF 621 98% . LIFR 3370 100% Stuve‐Wiedemann Syndrome LIG1 2868 94% . LIG3 3164 100% . LIG4 2740 100% . LILRA1 1506 100% . LILRA2 1484 100% . LILRA3 1396 100% . LILRA4 1532 100% . LILRA5 1014 100% . LILRA6 1478 96% . LILRB1 2123 100% . LILRB2 1913 98% . LILRB3 1979 83% . LILRB4 1521 100% . LILRB5 2064 99% . LIM2 664 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:310

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LIMA1 2323 100% . LIMCH1 3398 99% . LIMD1 2102 100% . LIMD2 400 100% . LIME1 908 80% . LIMK1 2062 94% . LIMK2 2608 100% . LIMS1 1363 96% . LIMS2 1331 89% . LIMS3 732 0% . LIMS3L 732 0% . LIN28A 646 100% . LIN28B 769 100% . LIN37 777 100% . LIN52 375 100% . LIN54 2298 100% . LIN7A 722 100% . LIN7B 648 80% . LIN7C 614 100% . LIN9 2143 88% . LINGO1 1871 99% . LINGO2 1825 100% . LINGO3 1783 89% . LINGO4 1786 100% . LINS 2387 100% . LIPA 1257 100% Wolman Disease LIPC 1536 100% . LIPE 3271 96% . LIPF 1267 98% . LIPG 1572 100% . LIPH 1396 100% . LIPI 1486 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:311

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LIPJ 1137 100% . LIPK 1236 100% . LIPM 1308 100% . LIPN 1233 100% . LIPT1 1126 100% . LIPT2 704 34% . LITAF 784 89% Charcot‐Marie‐Tooth Neuropathy Type 1 LITAF 784 89% Charcot‐Marie‐Tooth Neuropathy Type 1C LIX1 873 100% . LIX1L 1038 83% . LLGL1 3283 97% . LLGL2 3226 97% . LLPH 398 100% . LMAN1 1585 100% Factor V and Factor VIII, Combined Deficiency of LMAN1L 1814 95% . LMAN2 1126 100% . LMAN2L 1116 100% . LMBR1 1559 100% . LMBR1L 1665 100% . LMBRD1 1687 100% cblF LMBRD1 1687 100% Disorders of Intracellular Cobalamin Metabolism LMBRD2 2156 100% . LMCD1 1124 100% . LMF1 1734 98% . LMF2 2231 90% . LMLN 2147 100% . LMNA 2064 94% Atypical Werner Syndrome LMNA 2064 94% Charcot‐Marie‐Tooth Neuropathy Type 2 LMNA 2064 94% Charcot‐Marie‐Tooth Neuropathy Type 2B1 LMNA 2064 94% Congenital Muscular Dystrophy, LMNA‐Related LMNA 2064 94% Dilated Cardiomyopathy LMNA 2064 94% Dilated Cardiomyopathy with Quadriceps Myopathy UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:312

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LMNA 2064 94% Emery‐Dreifuss Muscular Dystrophy LMNA 2064 94% Familial Partial Lipodystrophy Type 2 LMNA 2064 94% Hutchinson‐Gilford Progeria Syndrome LMNA 2064 94% Lethal Restrictive Dermopathy, LMNA‐Related LMNA 2064 94% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant LMNA 2064 94% Limb‐Girdle Muscular Dystrophy Type 1B LMNA 2064 94% Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules LMNA 2064 94% LMNA‐Related Dilated Cardiomyopathy LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal Dominant LMNA 2064 94% LMNA‐Related Emery‐Dreifuss Muscular Dystrophy, Autosomal Recessive LMNA 2064 94% LMNA‐Related Muscle Diseases LMNA 2064 94% LMNA 2064 94% Progeroid LMNB1 1809 81% , Adult‐Onset, Autosomal Dominant LMNB2 1851 99% . LMO1 536 100% . LMO2 812 69% . LMO3 666 73% . LMO4 514 100% . LMO7 5185 100% . LMOD1 1815 100% . LMOD2 1698 100% . LMOD3 1699 100% . LMTK2 4568 98% . LMTK3 4534 71% . LMX1A 1181 100% . LMX1B 1241 95% ‐Patella Syndrome LNP1 588 100% . LNPEP 3150 99% . LNX1 2323 100% . LNX2 2109 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:313

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LOC100127983 5 0% . LOC100128071 3 0% . LOC100128496 468 89% . LOC100129216 221 100% . LOC100129480 4 0% . LOC100129520 1012 0% . LOC100129636 21 0% . LOC100129924 719 100% . LOC100130301 4 0% . LOC100130348 539 100% . LOC100130357 154 99% . LOC100130451 3 0% . LOC100130480 6 0% . LOC100130705 2 0% . LOC100130880 4 0% . LOC100130890 3 0% . LOC100131094 2 0% . LOC100132146 3 0% . LOC100132247 3430 39% . LOC100132396 923 27% . LOC100133267 496 20% . LOC100144595 2 0% . LOC100287036 2 0% . LOC100287177 2 0% . LOC100287482 2 0% . LOC100287718 5 0% . LOC100288255 860 10% . LOC100288524 3 0% . LOC100288814 541 0% . LOC100289187 174 0% . LOC100289561 41 93% . LOC100293516 1549 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:314

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LOC100293534 11085 18% . LOC100329135 1 0% . LOC100500938 4 0% . LOC100505478 4 0% . LOC100505549 2 0% . LOC100505679 3 0% . LOC100505841 3 0% . LOC100506012 361 77% . LOC100506388 3 0% . LOC100506422 410 53% . LOC100506650 361 100% . LOC100506688 1 0% . LOC100506888 1646 24% . LOC100507003 3 0% . LOC100507050 682 0% . LOC100507055 434 69% . LOC100507096 2 0% . LOC100507203 2 0% . LOC100507341 1 0% . LOC100507421 400 0% . LOC100507462 4 0% . LOC100507588 5 0% . LOC100509575 346 100% . LOC100653515 1874 100% . LOC120824 1385 100% . LOC147646 2 0% . LOC147670 3 0% . LOC154872 289 0% . LOC158434 2 0% . LOC200726 2 0% . LOC256021 7 0% . LOC283116 1383 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:315

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LOC283403 3 0% . LOC283710 4 0% . LOC284385 3 0% . LOC285033 2 0% . LOC286238 2 0% . LOC347411 1 0% . LOC375190 1010 100% . LOC388276 6 0% . LOC388588 2 0% . LOC388630 7 0% . LOC388849 501 19% . LOC388946 671 100% . LOC389493 1 0% . LOC389676 3 0% . LOC389831 2 0% . LOC390940 635 69% . LOC391322 2 0% . LOC399939 2774 7% . LOC400950 440 100% . LOC401052 2 0% . LOC402160 1418 1% . LOC440335 4 0% . LOC440563 1 0% . LOC554223 24 0% . LOC643037 4 0% . LOC643669 5 0% . LOC643802 777 100% . LOC643988 685 40% . LOC644100 3 0% . LOC646498 4 0% . LOC646508 1399 99% . LOC646627 1 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:316

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LOC646851 1914 100% . LOC646862 820 28% . LOC647589 1172 7% . LOC649330 886 100% . LOC650293 1 0% . LOC653486 300 100% . LOC728369 12776 2% . LOC728373 12776 2% . LOC728379 12776 2% . LOC728392 1 0% . LOC728393 12776 2% . LOC728400 12776 2% . LOC728405 12776 2% . LOC728819 1 0% . LOC729020 1 0% . LOC729059 3 0% . LOC729264 2 0% . LOC730159 2 0% . LOC730755 391 21% . LOC81691 2446 100% . LOH12CR1 607 100% . LONP1 2952 96% . LONP2 2619 98% . LONRF1 2370 70% . LONRF2 2313 80% . LONRF3 2324 92% . LOR 943 44% . LOX 1282 98% . LOXHD1 7123 99% DFNB77 Nonsyndromic Hearing Loss and Deafness LOXHD1 7123 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LOXL1 1753 74% . LOXL2 2377 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:317

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LOXL3 2322 100% . LOXL4 2327 100% . LPA 6279 71% . LPAR1 1107 100% . LPAR2 1064 100% . LPAR3 1070 100% . LPAR4 1117 100% . LPAR5 1326 85% . LPAR6 1039 100% . LPCAT1 1661 92% . LPCAT2 1691 100% . LPCAT3 1512 100% . LPCAT4 1631 91% . LPGAT1 1141 100% . LPHN1 4517 98% . LPHN2 4288 100% . LPHN3 4502 100% . LPIN1 2762 100% Myoglobinuria, Acute Recurrent, Autosomal Recessive LPIN2 2776 100% Majeed Syndrome LPIN3 2632 100% . LPL 1468 99% Familial Lipoprotein Deficiency LPO 2187 100% . LPP 1922 100% . LPPR1 1006 100% . LPPR2 1391 89% . LPPR3 2268 56% . LPPR4 2384 91% . LPPR5 990 100% . LPXN 1205 100% . LRAT 701 100% Leber Congenital Amaurosis LRAT 701 100% LRAT‐Related Leber Congenital Amaurosis LRAT 701 100% Retinal Dystrophy, Early‐Onset, Severe UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:318

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LRBA 8855 100% . LRCH1 2510 94% . LRCH2 2394 98% . LRCH3 2215 100% . LRCH4 2124 98% . LRFN1 2324 99% . LRFN2 2378 100% . LRFN3 1895 98% . LRFN4 1916 81% . LRFN5 2176 100% . LRG1 1052 100% . LRGUK 2558 100% . LRIF1 2326 100% . LRIG1 3358 96% . LRIG2 3270 100% . LRIG3 3496 94% . LRIT1 1888 89% . LRIT2 1665 100% . LRIT3 1917 100% . LRMP 1626 100% . LRP1 13991 99% . LRP10 2170 100% . LRP11 1531 71% . LRP12 2608 100% . LRP1B 14164 100% . LRP2 14328 100% Donnai‐Barrow Syndrome LRP2BP 1104 100% . LRP3 2438 94% . LRP4 5870 98% LRP4‐Related Mineral Density Variation LRP5 4940 98% Familial Exudative Vitreoretinopathy LRP5 4940 98% Familial Exudative Vitreoretinopathy, Autosomal Dominant LRP5 4940 98% Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:319

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LRP5 4940 98% LRP5‐Related Bone Mineral Density Variation LRP5 4940 98% Osteoporosis Pseudoglioma Syndrome LRP5 4940 98% Van Buchem Disease, Type 2 LRP5L 779 100% . LRP6 4934 100% . LRP8 2968 83% . LRPAP1 1201 87% . LRPPRC 4389 96% Leigh Syndrome, French‐Canadian Type LRR1 1261 100% . LRRC1 1631 100% . LRRC10 838 100% . LRRC10B 883 12% . LRRC14 1494 100% . LRRC14B 1553 88% . LRRC15 1772 99% . LRRC16A 4264 100% . LRRC16B 4279 97% . LRRC17 1356 100% . LRRC18 794 100% . LRRC19 1129 100% . LRRC2 1148 100% . LRRC20 571 100% . LRRC23 1313 100% . LRRC24 1558 74% . LRRC25 926 100% . LRRC26 1013 31% . LRRC27 1815 96% . LRRC28 1261 100% . LRRC29 1027 88% . LRRC3 778 100% . LRRC30 910 100% . LRRC31 1695 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:320

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LRRC32 1997 100% . LRRC33 2087 100% . LRRC34 1439 83% . LRRC36 2349 99% . LRRC37A 5173 29% . LRRC37A2 5173 44% . LRRC37A3 4953 87% . LRRC37B 2973 100% . LRRC38 963 85% . LRRC39 1112 100% . LRRC3B 784 100% . LRRC3C 836 86% . LRRC4 1966 100% . LRRC40 1869 100% . LRRC41 2639 98% . LRRC42 1315 100% . LRRC43 2079 98% . LRRC45 2081 72% . LRRC46 998 100% . LRRC47 1780 79% . LRRC48 1675 100% . LRRC49 2131 100% . LRRC4B 2150 97% . LRRC4C 1927 100% . LRRC52 950 100% . LRRC55 1034 100% . LRRC56 1762 88% . LRRC57 740 100% . LRRC58 1132 82% . LRRC59 952 100% . LRRC6 1449 100% . LRRC61 784 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:321

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LRRC66 2659 100% . LRRC69 1076 55% . LRRC7 4729 100% . LRRC70 1873 0% . LRRC71 1740 86% . LRRC72 900 100% . LRRC73 975 98% . LRRC8A 2441 100% . LRRC8B 2420 100% . LRRC8C 2420 100% . LRRC8D 2581 100% . LRRC8E 2399 100% . LRRCC1 3219 100% . LRRD1 2607 100% . LRRFIP1 3631 95% . LRRFIP2 2274 99% . LRRIQ1 5328 100% . LRRIQ3 1903 100% . LRRIQ4 1703 100% . LRRK1 6194 97% . LRRK2 7910 100% LRRK2‐Related Parkinson Disease LRRK2 7910 100% Parkinson Disease LRRN1 2155 100% . LRRN2 2146 100% . LRRN3 2131 100% . LRRN4 2239 91% . LRRN4CL 721 91% . LRRTM1 1573 100% . LRRTM2 1559 100% . LRRTM3 1758 100% . LRRTM4 1796 100% . LRSAM1 2268 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:322

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LRTM1 1050 100% . LRTM2 1151 94% . LRTOMT 1498 95% DFNB63 Nonsyndromic Hearing Loss and Deafness LRTOMT 1498 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LRWD1 2035 88% . LSAMP 1045 100% . LSG1 2033 100% . LSM1 418 100% . LSM10 376 100% . LSM11 1099 90% . LSM12 617 88% . LSM14A 1460 98% . LSM14B 1268 100% . LSM2 333 92% . LSM3 325 100% . LSM4 440 79% . LSM5 481 100% . LSM6 255 100% . LSM7 328 99% . LSMD1 570 100% . LSP1 1501 92% . LSR 1990 99% . LSS 2287 97% . LST1 444 89% . LTA 648 97% . LTA4H 1921 100% . LTB 779 96% . LTB4R 1063 86% . LTB4R2 1174 100% . LTBP1 5361 92% . LTBP2 5610 98% LTBP2‐Related Primary Congenital Glaucoma LTBP3 4024 85% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:323

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LTBP4 5351 91% Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities LTBR 1348 97% . LTC4S 473 58% . LTF 2213 100% . LTK 2895 95% . LTN1 5563 100% . LTV1 1472 100% . LUC7L 1228 90% . LUC7L2 1625 97% . LUC7L3 1339 100% . LUM 1025 100% . LUZP1 3239 100% . LUZP2 1089 100% . LUZP4 958 100% . LUZP6 1 0% . LXN 693 100% . LY6D 399 86% . LY6E 408 100% . LY6G5B 636 97% . LY6G5C 577 97% . LY6G6C 408 96% . LY6G6D 553 97% . LY6G6F 954 96% . LY6H 502 73% . LY6K 685 87% . LY75 5309 98% . LY75‐CD302 5778 98% . LY86 509 100% . LY9 2143 100% . LY96 503 100% . LYAR 1172 100% . LYG1 605 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:324

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LYG2 688 100% . LYL1 855 63% . LYN 1587 100% . LYNX1 669 98% . LYPD1 490 100% . LYPD2 390 75% . LYPD3 1067 100% . LYPD4 796 100% . LYPD5 776 98% . LYPD6 532 100% . LYPD6B 648 100% . LYPLA1 759 91% . LYPLA2 804 100% . LYPLAL1 734 100% . LYRM1 381 100% . LYRM2 3 0% . LYRM4 377 56% . LYRM5 275 100% . LYRM7 335 100% . LYSMD1 736 95% . LYSMD2 660 58% . LYSMD3 936 100% . LYSMD4 998 100% . LYST 11610 100% Chediak‐Higashi Syndrome LYVE1 993 100% . LYZ 463 100% Familial Visceral Amyloidosis LYZ 463 100% LYZ‐Related Familial Visceral Amyloidosis LYZL1 605 100% . LYZL2 605 100% . LYZL4 457 94% . LYZL6 463 100% . LZIC 597 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:325

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

LZTFL1 940 100% . LZTR1 2784 96% . LZTS1 1803 100% . LZTS2 2026 99% . M6PR 858 100% . MAB21L1 1084 100% . MAB21L2 1084 100% . MAB21L3 1113 100% . MACC1 2575 100% . MACF1 16665 100% . MACROD1 1018 76% . MACROD2 1420 100% . MAD1L1 2484 98% . MAD2L1 638 100% . MAD2L1BP 1044 76% . MAD2L2 1058 100% . MADCAM1 1169 64% . MADD 5084 100% . MAEA 1299 99% . MAEL 1353 100% . MAF 1224 71% . MAF1 799 100% . MAFA 1066 50% . MAFB 976 100% . MAFF 503 56% . MAFG 497 100% . MAFIP 1 0% . MAFK 479 86% . MAG 1954 96% . MAGEA1 934 100% . MAGEA10 1114 100% . MAGEA10‐MAGEA5 379 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:326

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MAGEA11 1319 100% . MAGEA12 949 100% . MAGEA2 1898 0% . MAGEA2B 1898 0% . MAGEA3 1014 88% . MAGEA4 1042 100% . MAGEA5 379 100% . MAGEA6 1014 88% . MAGEA8 961 100% . MAGEA9 1904 10% . MAGEA9B 1904 10% . MAGEB1 1048 100% . MAGEB10 1048 100% . MAGEB16 1045 100% . MAGEB18 1036 100% . MAGEB2 964 100% . MAGEB3 1045 100% . MAGEB4 1045 100% . MAGEB6 1228 99% . MAGEC1 3438 100% . MAGEC2 1126 100% . MAGEC3 2404 100% . MAGED1 2553 100% . MAGED2 1865 94% . MAGED4 4782 3% . MAGED4B 4914 3% . MAGEE1 2878 100% . MAGEE2 1576 100% . MAGEF1 928 100% . MAGEH1 664 100% . MAGEL2 1 0% . MAGI1 4719 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:327

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MAGI2 4456 94% . MAGI3 4584 98% . MAGIX 1185 81% . MAGOH 461 100% . MAGOHB 467 100% . MAGT1 1144 100% Congenital Disorders of Glycosylation MAGT1 1144 100% MAGT1‐CDG MAK 1925 100% . MAK16 943 100% . MAL 478 88% . MAL2 548 76% . MALL 478 46% . MALT1 2547 92% . MAMDC2 2117 94% . MAMDC4 3534 96% . MAML1 3319 83% . MAML2 3491 95% . MAML3 3620 99% . MAMLD1 3467 69% . MAMSTR 1284 87% . MAN1A1 2010 100% . MAN1A2 1978 100% . MAN1B1 4090 97% . MAN1C1 1945 100% . MAN2A1 3523 100% . MAN2A2 3566 100% . MAN2B1 3132 95% Alpha‐Mannosidosis MAN2B2 3157 98% . MAN2C1 3295 96% . MANBA 2708 94% Beta‐Mannosidosis MANBAL 266 100% . MANEA 1458 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:328

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MANEAL 1390 81% . MANF 574 85% . MANSC1 1308 100% . MANSC4 1029 100% . MAOA 1644 96% MAOA‐Related Behavior Disorders MAOB 1623 100% . MAP1A 8580 100% . MAP1B 7435 100% . MAP1LC3A 438 88% . MAP1LC3B 394 98% . MAP1LC3B2 382 100% . MAP1LC3C 460 100% . MAP1S 3208 89% . MAP2 5804 100% . MAP2K1 1226 96% Cardiofaciocutaneous Syndrome MAP2K1 1226 96% MAP2K1‐Related Cardiofaciocutaneous Syndrome MAP2K2 1247 90% Cardiofaciocutaneous Syndrome MAP2K2 1247 90% MAP2K2‐Related Cardiofaciocutaneous Syndrome MAP2K3 1157 100% . MAP2K4 1244 90% . MAP2K5 1436 98% . MAP2K6 1053 100% . MAP2K7 1451 91% . MAP3K1 4619 89% . MAP3K10 2905 88% . MAP3K11 2584 98% . MAP3K12 2731 100% . MAP3K13 2998 100% . MAP3K14 3035 100% . MAP3K15 4058 91% . MAP3K2 1924 100% . MAP3K3 2042 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:329

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MAP3K4 4935 99% . MAP3K5 4501 94% . MAP3K6 3994 91% . MAP3K7 1889 100% . MAP3K8 1539 100% . MAP3K9 3409 96% . MAP4 3722 99% . MAP4K1 2697 95% . MAP4K2 2761 96% . MAP4K3 2821 100% . MAP4K4 4320 100% . MAP4K5 2665 100% . MAP6 2462 75% . MAP6D1 612 37% . MAP7 2460 91% . MAP7D1 2731 88% . MAP7D2 2390 100% . MAP7D3 2706 97% . MAP9 2080 100% . MAPK1 1115 92% . MAPK10 1448 100% . MAPK11 1147 90% . MAPK12 1265 82% . MAPK13 1150 100% . MAPK14 1242 100% . MAPK15 1742 97% . MAPK1IP1L 750 100% . MAPK3 1229 99% . MAPK4 1784 89% . MAPK6 2186 100% . MAPK7 2717 99% . MAPK8 1409 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:330

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MAPK8IP1 2184 81% . MAPK8IP2 2612 77% . MAPK8IP3 4140 99% . MAPK9 1441 100% . MAPKAP1 1635 100% . MAPKAPK2 1301 97% . MAPKAPK3 1190 99% . MAPKAPK5 1482 100% . MAPKBP1 4669 99% . MAPRE1 831 100% . MAPRE2 1106 91% . MAPRE3 870 100% . MAPT 2401 99% MAPT‐Related Disorders MARCKS 1007 57% . MARCKSL1 596 100% . MARCO 1632 100% . MARK1 2460 99% . MARK2 2453 98% . MARK3 2334 100% . MARK4 2497 95% . MARS 2826 100% . MARS2 1786 100% . MARVELD1 1 0% . MARVELD2 1701 100% DFNB49 Nonsyndromic Hearing Loss and Deafness MARVELD2 1701 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MARVELD3 1873 75% . MAS1 982 100% . MAS1L 1148 99% . MASP1 3130 100% . MASP2 2147 93% MASP2 Deficiency MAST1 4817 99% . MAST2 5513 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:331

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MAST3 4038 96% . MAST4 8159 97% . MASTL 2688 100% Thrombocytopenia 2 MAT1A 1224 100% Isolated Persistent MAT2A 1228 100% . MAT2B 1127 95% . MATK 1655 100% . MATN1 1523 92% . MATN2 2949 100% . MATN3 1494 85% MATN3‐Related Multiple Epiphyseal Dysplasia MATN3 1494 85% Multiple Epiphyseal Dysplasia, Dominant MATN4 1783 97% . MATR3 2868 96% Distal Myopathy 2 MAU2 1954 100% . MAVS 1772 100% . MAX 902 100% . MAZ 1661 84% . MB 477 100% . MB21D1 1597 90% . MB21D2 1484 100% . MBD1 2256 100% . MBD2 1471 77% . MBD3 900 99% . MBD3L1 589 100% . MBD3L2 635 43% . MBD3L3 635 92% . MBD3L4 635 13% . MBD3L5 635 40% . MBD4 1829 100% . MBD5 5262 100% . MBD6 3056 100% . MBIP 1071 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:332

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MBL2 763 100% Mannose‐Binding Lectin Deficiency MBLAC1 805 90% . MBLAC2 994 86% . MBNL1 1307 100% . MBNL2 1249 100% . MBNL3 1189 100% . MBOAT1 1540 100% . MBOAT2 1615 95% . MBOAT4 1320 73% . MBOAT7 1451 90% . MBP 1319 96% . MBTD1 1991 100% . MBTPS1 3615 100% . MBTPS2 1627 97% . MC1R 954 100% . MC2R 898 100% Deficiency 1 MC3R 1087 100% . MC4R 1003 100% Obesity MC4R 1003 100% Obesity, MC4R‐Related MC5R 982 100% . MCAM 2503 90% . MCART1 898 100% . MCART2 898 100% . MCART6 928 100% . MCAT 1189 87% . MCC 3260 100% . MCCC1 2254 99% 3‐Methylcrotonyl‐CoA Carboxylase Deficiency MCCC1 2254 99% MCCC1‐Related 3‐Methylcrotonyl‐CoA Carboxylase Deficiency MCCC2 1882 94% 3‐Methylcrotonyl‐CoA Carboxylase Deficiency MCCC2 1882 94% MCCC2‐Related 3‐Methylcrotonyl‐CoA Carboxylase Deficiency MCCD1 382 95% . MCEE 543 100% MCEE‐Related UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:333

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MCEE 543 100% Methylmalonic Acidemia MCF2 3245 100% . MCF2L 3737 98% . MCF2L2 3490 100% . MCFD2 641 73% Factor V and Factor VIII, Combined Deficiency of MCHR1 1277 100% . MCHR2 1043 100% . MCL1 1076 100% . MCM10 2731 100% . MCM2 2798 100% . MCM3 2630 100% . MCM3AP 6055 100% . MCM4 2656 100% . MCM5 2400 96% . MCM6 2534 100% Lactose Intolerance, Adult Type MCM7 2221 100% . MCM8 2595 100% . MCM9 3540 95% . MCMBP 1993 97% . MCOLN1 2030 98% Mucolipidosis IV MCOLN2 1757 100% . MCOLN3 1731 100% . MCPH1 2564 100% Primary Autosomal Recessive Microcephaly MCPH1 2564 100% Primary Autosomal Recessive Microcephaly Type 1 MCRS1 1498 99% . MCTP1 3193 90% . MCTP2 2801 100% . MCTS1 588 100% . MCU 1088 92% . MDC1 6424 98% . MDFI 757 93% . MDFIC 1130 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:334

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MDGA1 3082 91% . MDGA2 2948 100% . MDH1 1102 100% . MDH1B 1605 100% . MDH2 1053 93% . MDK 720 100% . MDM1 2487 98% . 1538 100% . MDM4 1513 100% . MDN1 17361 100% . MDP1 555 100% . ME1 1775 99% . ME2 1815 100% . ME3 1871 100% . MEA1 574 100% . MEAF6 662 99% . MECOM 3792 100% . MECP2 1605 96% MECP2 Duplication Syndrome MECP2 1605 96% MECP2‐Related Disorders MECR 1162 99% . MED1 4814 100% . MED10 424 100% . MED11 366 100% . MED12 6778 99% FG Syndrome Type 1 MED12 6778 99% Lujan Syndrome MED12 6778 99% MED12‐Related Disorders MED12L 6631 100% . MED13 6645 100% . MED13L 6757 100% . MED14 4497 96% . MED15 2450 100% . MED16 2737 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:335

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MED17 2004 98% . MED18 635 100% . MED19 601 63% . MED20 670 100% . MED21 451 100% . MED22 629 100% . MED23 4292 100% . MED24 3199 98% . MED25 2495 98% Charcot‐Marie‐Tooth Neuropathy Type 2B2 MED26 1815 96% . MED27 969 100% . MED28 553 100% . MED29 740 100% . MED30 553 100% . MED31 412 100% . MED4 841 100% . MED6 824 100% . MED7 706 100% . MED8 942 100% . MED9 449 100% . MEF2A 1700 100% . MEF2B 1305 67% . MEF2BNB 386 1% . MEF2BNB‐MEF2B 1164 74% . MEF2C 1604 100% Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations MEF2D 1610 88% . MEFV 2386 100% Familial Mediterranean Fever MEGF10 3519 100% . MEGF11 3453 94% . MEGF6 5074 86% . MEGF8 8501 98% . MEGF9 1833 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:336

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MEI1 3949 100% . MEIG1 275 100% . MEIS1 1227 100% . MEIS2 1545 100% . MEIS3 1389 97% . MELK 2024 100% . MEMO1 930 94% . MEN1 1884 98% Multiple Endocrine Neoplasia Type 1 MEOX1 777 100% . MEOX2 927 100% . MEP1A 2297 100% . MEP1B 2166 100% . MEPCE 2086 86% . MEPE 1590 100% . MERTK 3223 99% MERTK‐Related Retinitis Pigmentosa MERTK 3223 99% Retinitis Pigmentosa, Autosomal Recessive MESDC1 1093 89% . MESDC2 717 100% . MESP1 815 63% . MESP2 1202 80% MESP2‐Related Spondylocostal Dysostosis, Autosomal Recessive MESP2 1202 80% Spondylocostal Dysostosis MESP2 1202 80% Spondylocostal Dysostosis, Autosomal Recessive MESP2 1202 80% Spondylothoracic Dysostosis MEST 1067 98% . MET 4427 100% Papillary Renal Carcinoma METAP1 1205 100% . METAP1D 1048 96% . METAP2 1481 100% . METRN 898 40% . METRNL 952 82% . METTL1 930 100% . METTL10 908 67% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:337

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

METTL11A 684 100% . METTL11B 868 100% . METTL12 731 100% . METTL13 2132 100% . METTL14 1426 100% . METTL15 1292 100% . METTL16 1725 100% . METTL17 1496 100% . METTL18 1123 100% . METTL19 2350 88% . METTL20 801 100% . METTL21A 669 100% . METTL21B 836 100% . METTL21C 811 100% . METTL21D 758 100% . METTL22 1255 100% . METTL23 589 100% . METTL2A 1173 100% . METTL2B 1173 100% . METTL3 1787 100% . METTL4 1451 100% . METTL5 820 100% . METTL6 875 100% . METTL7A 743 100% . METTL7B 743 100% . METTL8 1212 100% . METTL9 977 95% . MEX3A 2 0% . MEX3B 1718 99% . MEX3C 1988 72% . MEX3D 2027 55% . MFAP1 1356 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:338

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MFAP2 584 85% . MFAP3 1097 100% . MFAP3L 1249 100% . MFAP4 874 96% . MFAP5 558 100% . MFF 1065 100% . MFGE8 1196 94% . MFHAS1 3171 97% . MFI2 2482 94% . MFN1 2294 100% . MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2 MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2A MFN2 2342 100% Charcot‐Marie‐Tooth Neuropathy Type 2A2 MFN2 2342 100% Hereditary Motor and Sensory Neuropathy VI MFNG 1181 100% . MFRP 1792 100% . MFSD1 1639 99% . MFSD10 1519 95% . MFSD11 1402 100% . MFSD12 1690 92% . MFSD2A 1688 100% . MFSD2B 1546 94% . MFSD3 1259 64% . MFSD4 1585 90% . MFSD5 1682 99% . MFSD6 2400 100% . MFSD6L 1765 100% . MFSD7 1788 97% . MFSD8 1605 100% MFSD8‐Related Neuronal Ceroid‐Lipofuscinosis MFSD8 1605 100% Neuronal Ceroid‐Lipofuscinoses MFSD9 1485 100% . MGA 9437 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:339

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MGAM 5762 100% . MGAT1 1342 99% . MGAT2 1348 100% Congenital Disorders of Glycosylation MGAT2 1348 100% MGAT2‐CDG (CDG‐IIa) MGAT3 1607 100% . MGAT4A 1770 95% . MGAT4B 1849 95% . MGAT4C 1455 100% . MGAT5 2290 100% . MGAT5B 2605 99% . MGEA5 2865 98% . MGLL 986 96% . MGMT 737 99% . MGP 329 100% MGRN1 1847 94% . MGST1 480 100% . MGST2 464 100% . MGST3 486 100% . MIA 412 100% . MIA2 1989 100% . MIA3 5849 98% . MIB1 3105 100% . MIB2 3357 82% . MICA 1210 92% . MICAL1 3373 100% . MICAL2 3750 100% . MICAL3 7042 98% . MICALCL 2120 95% . MICALL1 2683 83% . MICALL2 2800 90% . MICB 1217 94% . MICU1 1480 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:340

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MID1 2042 100% Opitz G/BBB Syndrome, X‐Linked MID1IP1 556 100% . MID2 2248 100% . MIDN 1435 92% . MIEN1 364 81% . MIER1 1940 98% . MIER2 1694 97% . MIER3 1720 99% . MIF 786 75% . MIF4GD 1047 100% . MIIP 1210 100% . MILR1 4 0% . MINA 1438 100% . MINK1 4155 93% . MINOS1 299 100% . MINPP1 1485 100% . MIOS 2672 100% . MIOX 930 100% . MIP 808 100% . MIPEP 2218 92% . MIPOL1 1373 100% . MIR205HG 3 0% . MIS12 622 100% . MIS18A 722 100% . MIS18BP1 3463 100% . MITD1 789 100% . MITF 1871 99% Waardenburg Syndrome Type II MITF 1871 99% Waardenburg Syndrome Type IIA MIXL1 707 72% . MKI67 9827 100% . MKI67IP 910 100% . MKKS 1729 100% Bardet‐Biedl Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:341

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MKKS 1729 100% McKusick‐Kaufman Syndrome MKKS 1729 100% MKKS‐Related Bardet‐Biedl Syndrome MKL1 3090 99% . MKL2 3424 100% . MKLN1 2284 100% . MKNK1 1450 91% . MKNK2 1545 88% . MKRN1 1496 89% . MKRN2 1283 98% . MKRN3 1528 100% . MKS1 1755 95% Bardet‐Biedl Syndrome MKS1 1755 95% Meckel Syndrome MKS1 1755 95% MKS1‐Related Bardet‐Biedl Syndrome MKS1 1755 95% MKS1‐Related Meckel Syndrome MKX 1083 100% . MLANA 373 100% . MLC1 1178 97% Megalencephalic Leukoencephalopathy with Subcortical Cysts MLEC 899 100% . MLF1 938 100% . MLF1IP 1309 99% . MLF2 775 98% . MLH1 2460 100% Hereditary Non‐Polyposis Colon Cancer MLH1 2460 100% MLH1‐Related Hereditary Non‐Polyposis Colon Cancer MLH1 2460 100% MLH1‐Related Muir‐Torre Syndrome MLH1 2460 100% MLH1‐Related Turcot Syndrome MLH1 2460 100% Turcot Syndrome MLH3 4410 100% Hereditary Non‐Polyposis Colon Cancer MLH3 4410 100% MLH3‐Related Hereditary Non‐Polyposis Colon Cancer MLIP 1429 100% . MLKL 1487 100% . MLL 12054 99% . MLL2 16830 99% UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:342

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MLL3 15028 100% . MLL4 8312 95% . MLL5 5822 100% . MLLT1 1728 97% . MLLT10 3761 97% . MLLT11 277 100% . MLLT3 1751 100% . MLLT4 5991 93% . MLLT6 3362 91% . MLN 364 94% . MLNR 1398 90% . MLPH 1913 100% . MLST8 1281 100% . MLX 1183 84% . MLXIP 2983 95% . MLXIPL 2830 89% . MLYCD 1502 83% Malonyl‐CoA Decarboxylase Deficiency MMAA 1281 100% Methylmalonic Acidemia MMAA 1281 100% MMAA‐Related Methylmalonic Acidemia MMAB 789 87% Methylmalonic Acidemia MMAB 789 87% MMAB‐Related Methylmalonic Acidemia MMACHC 865 100% cblC MMACHC 865 100% Disorders of Intracellular Cobalamin Metabolism MMADHC 919 100% cblD MMADHC 919 100% cblD (variant 1) MMADHC 919 100% cblD (variant 2) MMADHC 919 100% Disorders of Intracellular Cobalamin Metabolism MMADHC 919 100% Methylmalonic Acidemia MMADHC 919 100% MMADHC‐Related Methylmalonic Acidemia MMD 745 100% . MMD2 841 98% . MME 2341 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:343

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MMEL1 2461 94% . MMGT1 559 59% . MMP1 1450 100% . MMP10 1471 100% . MMP11 1503 93% . MMP12 1453 100% . MMP13 1456 100% . MMP14 1789 100% . MMP15 2050 91% . MMP16 1864 100% . MMP17 1852 84% . MMP19 1669 100% . MMP2 2042 100% Multicentric Osteolysis of Torg MMP2 2042 100% Multicentric Osteolysis, Nodulosis, and Arthropathy MMP2 2042 100% Winchester Syndrome MMP20 1492 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA2 MMP21 1738 82% . MMP23B 1538 10% . MMP24 1974 87% . MMP25 1729 88% . MMP26 810 100% . MMP27 1582 100% . MMP28 1608 97% . MMP3 1474 100% . MMP7 828 100% . MMP8 1444 100% . MMP9 2176 79% . MMRN1 3719 100% . MMRN2 2878 98% . MMS19 3347 100% . MMS22L 3828 100% . MN1 3971 88% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:344

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MNAT1 962 100% . MND1 683 100% . MNDA 1248 100% . MNS1 1528 100% . MNT 1773 91% . MNX1 1277 60% Currarino Syndrome MOAP1 1060 100% . MOB1A 713 100% . MOB1B 708 95% . MOB2 829 86% . MOB3A 666 100% . MOB3B 663 100% . MOB3C 842 100% . MOB4 710 96% . MOBP 258 100% . MOCOS 2727 96% . MOCS1 1368 92% Molybdenum Deficiency MOCS2 782 97% Molybdenum Cofactor Deficiency MOCS3 1387 100% . MOG 1089 94% . MOGAT1 1051 97% . MOGAT2 1029 100% . MOGAT3 1159 100% . MOGS 2530 94% Congenital Disorders of Glycosylation MOGS 2530 94% MOGS‐CDG (CDG‐IIb) MOK 1308 100% . MON1A 1983 99% . MON1B 1674 100% . MON2 5328 100% . MORC1 3067 100% . MORC2 3055 100% . MORC3 2891 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:345

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MORC4 2882 97% . MORF4L1 1141 97% . MORF4L2 871 100% . MORN1 1606 82% . MORN2 248 100% . MORN3 743 99% . MORN4 531 100% . MORN5 506 100% . MOS 1045 100% . MOSPD1 694 100% . MOSPD2 1617 100% . MOSPD3 798 100% . MOV10 3092 100% . MOV10L1 4034 96% . MOXD1 1950 96% . MPDU1 1069 100% Congenital Disorders of Glycosylation MPDU1 1069 100% MPDU1‐CDG (CDG‐If) MPDZ 6332 100% . MPEG1 2155 100% . MPG 941 97% . MPHOSPH10 2090 100% . MPHOSPH6 503 100% . MPHOSPH8 2639 100% . MPHOSPH9 3176 100% . MPI 1480 99% Congenital Disorders of Glycosylation MPI 1480 99% MPI‐CDG (CDG‐Ib) MPL 2041 94% Amegakaryocytic Thrombocytopenia, Congenital MPND 1568 77% . MPO 2378 100% . MPP1 1602 90% . MPP2 1707 100% . MPP3 1905 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:346

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MPP4 2019 100% Retinitis Pigmentosa, Autosomal Recessive MPP5 2080 100% . MPP6 1667 100% . MPP7 1795 100% . MPPE1 1230 100% . MPPED1 1005 88% . MPPED2 990 100% . MPRIP 3246 100% . MPST 975 84% . MPV17 639 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form MPV17 639 100% MPV17‐ Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form MPV17L 607 57% . MPV17L2 1036 70% . MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 1 MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 1B MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2 MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2I MPZ 808 100% Charcot‐Marie‐Tooth Neuropathy Type 2J MPZ 808 100% Congenital Hypomyelination MPZ 808 100% MPZ‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy MPZL1 847 89% . MPZL2 668 100% . MPZL3 732 100% . MR1 1109 100% . MRAP 644 100% Glucocorticoid Deficiency 2 MRAP2 630 100% . MRAS 647 100% . MRC1 8982 30% . MRC2 4560 95% . MRE11A 2203 100% . MREG 665 88% . MRFAP1 388 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:347

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MRFAP1L1 388 100% . MRGPRD 970 100% . MRGPRE 943 91% . MRGPRF 1040 77% . MRGPRG 874 38% . MRGPRX1 973 100% . MRGPRX2 997 100% . MRGPRX3 973 100% . MRGPRX4 973 100% . MRI1 1227 78% . MRM1 1082 100% . MRO 920 84% . MRP63 313 100% . MRPL1 1017 100% . MRPL10 987 76% . MRPL11 676 100% . MRPL12 617 88% . MRPL13 565 100% . MRPL14 446 100% . MRPL15 911 88% . MRPL16 772 100% . MRPL17 540 100% . MRPL18 559 100% . MRPL19 903 96% . MRPL2 1078 81% . MRPL20 466 100% . MRPL21 936 85% . MRPL22 649 100% . MRPL23 482 97% . MRPL24 671 100% . MRPL27 523 100% . MRPL28 800 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:348

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MRPL3 1087 100% . MRPL30 603 100% . MRPL32 591 100% . MRPL33 288 100% . MRPL34 287 90% . MRPL35 588 100% . MRPL36 316 100% . MRPL37 1300 100% . MRPL38 1179 96% . MRPL39 1150 100% . MRPL4 1025 100% . MRPL40 637 91% . MRPL41 418 100% . MRPL42 449 100% . MRPL43 1798 99% . MRPL44 1015 100% . MRPL45 953 99% . MRPL46 879 100% . MRPL47 781 100% . MRPL48 671 100% . MRPL49 517 100% . MRPL50 485 100% . MRPL51 399 100% . MRPL52 392 100% . MRPL53 351 100% . MRPL54 429 100% . MRPL55 512 94% . MRPL9 853 99% . MRPS10 634 99% . MRPS11 609 100% . MRPS12 425 100% . MRPS14 399 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:349

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MRPS15 806 100% . MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency 2 MRPS17 418 100% . MRPS18A 833 98% . MRPS18B 847 95% . MRPS18C 453 100% . MRPS2 992 94% . MRPS21 272 100% . MRPS22 1146 100% Combined Oxidative Phosphorylation Deficiency 5 MRPS23 593 100% . MRPS24 571 77% . MRPS25 661 99% . MRPS26 634 81% . MRPS27 1394 100% . MRPS28 576 100% . MRPS30 1340 100% . MRPS31 1216 100% . MRPS33 329 100% . MRPS34 690 58% . MRPS35 1006 100% . MRPS36 328 100% . MRPS5 1341 97% . MRPS6 390 100% . MRPS7 749 100% . MRPS9 1235 100% . MRRF 831 100% . MRS2 1382 100% . MRTO4 752 98% . MRVI1 2796 100% . MS4A1 918 100% . MS4A10 832 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:350

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MS4A12 828 100% . MS4A13 479 100% . MS4A14 2060 100% . MS4A15 747 88% . MS4A2 814 100% . MS4A3 669 100% . MS4A4A 748 100% . MS4A5 623 100% . MS4A6A 943 100% . MS4A6E 456 100% . MS4A7 747 100% . MS4A8B 816 100% . MSC 629 100% . MSGN1 586 100% . MSH2 2869 99% Hereditary Non‐Polyposis Colon Cancer MSH2 2869 99% MSH2‐Related Hereditary Non‐Polyposis Colon Cancer MSH2 2869 99% MSH2‐Related Muir‐Torre Syndrome MSH2 2869 99% MSH2‐Related Turcot Syndrome MSH3 3510 100% . MSH4 2891 100% . MSH5 2852 92% . MSH6 4123 100% Hereditary Non‐Polyposis Colon Cancer MSH6 4123 100% MSH6‐Related Hereditary Non‐Polyposis Colon Cancer MSH6 4123 100% MSH6‐Related Turcot Syndrome MSI1 1145 86% . MSI2 1188 94% . MSL1 1109 100% . MSL2 1742 100% . MSL3 1768 98% . MSLN 2052 98% . MSLNL 3226 87% . MSMB 361 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:351

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MSMO1 906 100% . MSMP 432 100% . MSN 1786 99% . MSR1 1444 100% . MSRA 749 98% . MSRB2 569 82% . MSRB3 683 97% . MST1 2296 100% . MST1R 4315 99% . MST4 1295 99% . MSTN 1140 100% Myostatin‐Related Muscle Hypertrophy MSTO1 1769 87% . MSX1 920 73% Cleft Lip +/‐ Cleft Palate MSX1 920 73% Orofacial Cleft 5 MSX1 920 73% Tooth Agenesis, Selective, 1 MSX1 920 73% Tooth‐and‐Nail Syndrome MSX2 838 83% Enlarged Parietal Foramina/Cranium Bifidum MSX2 838 83% MSX2‐Related Craniosynostosis MSX2 838 83% Parietal Foramina 1 MT1A 198 100% . MT1B 198 100% . MT1E 488 100% . MT1F 201 100% . MT1G 365 100% . MT1H 198 100% . MT1M 198 100% . MT1X 387 100% . MT2A 198 100% . MT3 219 100% . MT4 201 100% . MTA1 2232 94% . MTA2 2079 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:352

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MTA3 1604 98% . MTAP 909 100% . MTBP 2870 100% . MTCH1 1570 80% . MTCH2 964 99% . MTCP1 336 100% . MTCP1NB 215 100% . MTDH 1797 100% . MTERF 1208 100% . MTERFD1 1282 100% . MTERFD2 1216 98% . MTERFD3 1162 100% . MTF1 2302 100% . MTF2 1842 100% . MTFMT 1206 83% . MTFP1 713 90% . MTFR1 1144 100% . MTG1 1049 87% . MTHFD1 2916 100% . MTHFD1L 3101 91% . MTHFD2 1085 100% . MTHFD2L 1076 86% . MTHFR 2084 100% MTHFR Deficiency MTHFR 2084 100% MTHFR Thermolabile Variant MTHFR 2084 100% Neural Tube Defects, Folate‐Sensitive MTHFS 624 81% . MTHFSD 1302 95% . MTIF2 2236 100% . MTIF3 849 100% . MTL5 1627 100% . MTM1 1888 100% Myotubular Myopathy, X‐Linked MTMR1 2058 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:353

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MTMR10 2398 98% . MTMR11 2237 97% . MTMR12 2308 100% . MTMR14 2029 98% . MTMR2 1992 97% Charcot‐Marie‐Tooth Neuropathy Type 4 MTMR2 1992 97% Charcot‐Marie‐Tooth Neuropathy Type 4B1 MTMR3 3700 100% . MTMR4 3660 100% . MTMR6 1922 100% . MTMR7 2039 99% . MTMR8 2171 100% . MTMR9 1690 100% . MTNR1A 1061 90% . MTNR1B 1097 100% . MTO1 2330 92% . MTOR 7878 100% . MTPAP 1797 100% . MTPN 373 100% . MTR 4313 96% cblG MTR 4313 96% Disorders of Intracellular Cobalamin Metabolism MTRF1 1382 100% . MTRF1L 1286 98% . MTRNR2L1 1 0% . MTRNR2L10 1 0% . MTRNR2L2 1 0% . MTRNR2L3 1 0% . MTRNR2L4 1 0% . MTRNR2L5 1 0% . MTRNR2L6 1 0% . MTRNR2L7 1 0% . MTRNR2L8 1 0% . MTRR 2264 100% cblE UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:354

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MTRR 2264 100% Disorders of Intracellular Cobalamin Metabolism MTSS1 2326 100% . MTSS1L 2304 88% . MTTP 2820 100% Abetalipoproteinemia MTUS1 4188 100% . MTUS2 4324 95% . MTX1 1453 63% . MTX2 832 99% . MTX3 975 93% . MUC1 1829 77% . MUC12 16102 83% . MUC13 1580 100% . MUC15 1102 96% . MUC16 39138 100% . MUC17 13534 100% . MUC2 8650 99% . MUC20 2146 75% . MUC21 1735 99% . MUC22 34 0% . MUC4 16357 99% . MUC5B 17733 97% . MUC6 7452 97% . MUC7 1142 100% . MUCL1 289 100% . MUDENG 1640 100% . MUL1 1075 99% . MUM1 2254 82% . MUM1L1 2095 100% . MURC 1103 100% . MUS81 1907 97% . MUSK 2813 100% Congenital Myasthenic Syndromes MUSK 2813 100% MUSK‐Related Congenital Myasthenic Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:355

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MUSTN1 316 100% . MUT 2301 100% Methylmalonic Acidemia MUT 2301 100% MUT‐Related Methylmalonic Acidemia MUTED 585 100% . MUTYH 1764 100% MYH‐Associated Polyposis MVD 1243 86% . MVK 1231 100% Hyper IgD Syndrome MVK 1231 100% Mevalonicaciduria MVP 2738 99% . MX1 2041 100% . MX2 2200 100% . MXD1 690 89% . MXD3 1190 62% . MXD4 654 90% . MXI1 989 91% . MXRA5 8511 99% . MXRA7 1157 70% . MXRA8 1387 81% . MYADM 973 100% . MYADML2 928 76% . MYB 2376 99% . MYBBP1A 4131 98% . MYBL1 2327 100% . MYBL2 2159 99% . MYBPC1 3753 99% . MYBPC2 3538 100% . MYBPC3 3951 100% Dilated Cardiomyopathy MYBPC3 3951 100% Familial Hypertrophic Cardiomyopathy MYBPC3 3951 100% MYBPC3‐Related Dilated Cardiomyopathy MYBPC3 3951 100% MYBPC3‐Related Familial Hypertrophic Cardiomyopathy MYBPH 1474 100% . MYBPHL 1097 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:356

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MYC 1377 100% . MYCBP 332 98% . MYCBP2 14255 100% . MYCBPAP 3076 99% . MYCL1 1322 84% . MYCN 1520 96% MYCT1 716 100% . MYD88 974 100% . MYEF2 1871 97% . MYEOV 950 100% . MYEOV2 783 96% . MYF5 780 100% . MYF6 741 100% . MYH1 5972 100% . MYH10 6291 100% . MYH11 6260 100% MYH11‐Related Thoracic Aortic Aneurysms and Aortic Dissections MYH11 6260 100% Thoracic Aortic Aneurysms and Aortic Dissections MYH13 5973 100% . MYH14 6374 97% DFNA 4 Nonsyndromic Hearing Loss and Deafness MYH14 6374 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYH15 6009 100% . MYH2 5997 100% Inclusion Body Myopathy 3 MYH3 5979 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B MYH3 5979 100% Freeman‐Sheldon Syndrome MYH3 5979 100% MYH3‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B MYH4 5972 100% . MYH6 5968 100% Familial Hypertrophic Cardiomyopathy MYH6 5968 100% MYH6‐Related Familial Hypertrophic Cardiomyopathy MYH7 5960 100% Dilated Cardiomyopathy MYH7 5960 100% Familial Hypertrophic Cardiomyopathy MYH7 5960 100% Laing Distal Myopathy MYH7 5960 100% Left Ventricular Noncompaction 5 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:357

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MYH7 5960 100% MYH7‐Related Dilated Cardiomyopathy MYH7 5960 100% MYH7‐Related Familial Hypertrophic Cardiomyopathy MYH7 5960 100% MYH7‐Related Storage Myopathy MYH7 5960 100% Scapuloperoneal Myopathy, MYH7‐Related MYH7B 6362 97% . MYH8 5966 100% ‐Pseudocamptodactyly Syndrome MYH9 6043 100% DFNA17 Nonsyndromic Hearing Loss and Deafness MYH9 6043 100% Epstein Syndrome MYH9 6043 100% Fechtner Syndrome MYH9 6043 100% May‐Hegglin Anomaly MYH9 6043 100% MYH9‐Related Disorders MYH9 6043 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYH9 6043 100% Sebastian Syndrome MYL1 645 100% . MYL10 713 74% . MYL12A 528 100% . MYL12B 531 100% . MYL2 529 100% Familial Hypertrophic Cardiomyopathy MYL2 529 100% MYL2‐Related Familial Hypertrophic Cardiomyopathy MYL3 612 100% Familial Hypertrophic Cardiomyopathy MYL3 612 100% MYL3‐Related Familial Hypertrophic Cardiomyopathy MYL4 618 100% . MYL5 1081 98% . MYL6 513 100% . MYL6B 803 100% . MYL7 1002 100% . MYL9 531 100% . MYLIP 1366 96% . MYLK 5869 98% . MYLK2 1839 97% . MYLK3 2512 100% . MYLK4 1267 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:358

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MYLPF 538 100% . MYNN 1861 100% . MYO10 6396 100% . MYO15A 11268 92% DFNB 3 Nonsyndromic Hearing Loss and Deafness MYO15A 11268 92% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO16 5756 97% . MYO18A 6329 100% . MYO18B 7930 100% . MYO19 3009 100% . MYO1A 3240 100% DFNA48 Nonsyndromic Hearing Loss and Deafness MYO1A 3240 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO1B 3587 100% . MYO1C 3342 98% . MYO1D 3109 99% . MYO1E 3439 98% . MYO1F 3544 99% . MYO1G 3228 91% . MYO1H 31 0% . MYO3A 5005 100% DFNB30 Nonsyndromic Hearing Loss and Deafness MYO3A 5005 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO3B 4189 100% . MYO5A 5732 99% . MYO5B 5707 99% Diarrhea with Microvillus Atrophy 2 MYO5C 5393 99% . MYO6 3997 100% DFNA22 Nonsyndromic Hearing Loss and Deafness MYO6 3997 100% DFNB37 Nonsyndromic Hearing Loss and Deafness MYO6 3997 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO6 3997 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO7A 6983 95% DFNA11 Nonsyndromic Hearing Loss and Deafness MYO7A 6983 95% DFNB 2 Nonsyndromic Hearing Loss and Deafness MYO7A 6983 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO7A 6983 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:359

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MYO7A 6983 95% Usher Syndrome Type 1 MYO7A 6983 95% Usher Syndrome Type 1B MYO7B 6650 97% . MYO9A 7811 100% . MYO9B 6645 99% . MYOC 1527 100% Glaucoma, Dominant (Juvenile Onset) MYOC 1527 100% Primary Open Angle Glaucoma (Adult Onset) MYOCD 3029 100% . MYOD1 975 100% . MYOF 6458 100% . MYOG 687 98% . MYOM1 5206 100% . MYOM2 4542 100% . MYOM3 4758 99% . MYOT 1533 100% Limb‐Girdle Muscular Dystrophies, Autosomal Dominant MYOT 1533 100% Limb‐Girdle Muscular Dystrophy Type 1A MYOT 1533 100% Myofibrillar Myopathy MYOT 1533 100% Myotilinopathy MYOT 1533 100% Spheroid Body Myopathy MYOZ1 920 100% . MYOZ2 815 100% . MYOZ3 780 100% . MYPN 4081 100% . MYPOP 1208 61% . MYRIP 2644 100% . MYSM1 2567 100% . MYT1 3514 100% . MYT1L 3647 97% . MYZAP 1453 95% . MZB1 861 99% . MZF1 2225 96% . MZT1 261 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:360

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

MZT2A 489 61% . MZT2B 554 61% . N4BP1 2719 93% . N4BP2 5377 100% . N4BP2L1 825 99% . N4BP2L2 3633 100% . N4BP3 1651 100% . N6AMT1 669 100% . N6AMT2 661 100% . NAA10 824 97% . NAA11 694 100% . NAA15 2681 100% . NAA16 2708 100% . NAA20 582 100% . NAA25 3057 98% . NAA30 1105 100% . NAA35 2266 100% . NAA38 344 83% . NAA40 752 100% . NAA50 535 100% . NAA60 829 100% . NAAA 1228 97% . NAALAD2 2299 100% . NAALADL1 2553 99% . NAALADL2 2451 100% . NAB1 1492 100% . NAB2 1606 90% . NACA 6269 100% . NACA2 1 0% . NACAD 4721 75% . NACC1 1604 94% . NACC2 1784 49% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:361

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NADK 1999 95% . NADKD1 1377 91% . NADSYN1 2205 98% . NAE1 1733 98% . NAF1 1658 91% . NAGA 1272 98% Kanzaki disease NAGA 1272 98% Schindler Disease NAGK 1214 86% . NAGLU 2256 83% Mucopolysaccharidosis Type IIIB NAGPA 1588 89% . NAGS 1633 84% N‐Acetylglutamate Synthase Deficiency NAIF1 992 100% . NAIP 4458 15% . NALCN 5389 100% . NAMPT 1538 97% . NANOG 934 100% . NANOGNB 583 90% . NANOS1 883 42% . NANOS2 421 100% . NANOS3 587 100% . NANP 755 100% . NANS 1183 100% . NAP1L1 1232 100% . NAP1L2 1387 100% . NAP1L3 1525 100% . NAP1L4 1220 100% . NAP1L5 553 100% . NAPA 932 100% . NAPB 956 94% . NAPEPLD 1214 100% . NAPG 987 100% . NAPRT1 1830 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:362

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NAPSA 1299 100% . NARF 1571 92% . NARFL 1475 92% . NARG2 3009 100% . NARS 1766 100% . NARS2 1490 99% . NASP 2427 99% . NAT1 879 100% . NAT10 3190 100% . NAT14 629 68% . NAT16 1149 91% . NAT2 877 100% . NAT6 935 100% . NAT8 688 100% . NAT8B 1 0% . NAT8L 657 82% . NAT9 648 100% . NAV1 5840 98% . NAV2 7619 100% . NAV3 7248 100% . NBAS 7324 100% . NBEA 9065 100% . NBEAL1 8307 100% . NBEAL2 8523 99% . NBL1 754 94% . NBN 2329 100% Nijmegen Breakage Syndrome NBPF1 23 0% . NBPF10 7857 59% . NBPF11 5882 10% . NBPF14 2886 80% . NBPF15 2073 60% . NBPF16 4146 48% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:363

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NBPF24 5880 10% . NBPF3 2033 98% . NBPF4 1973 31% . NBPF6 2064 35% . NBPF7 8 0% . NBPF9 1903 88% . NBR1 2981 97% . NCALD 609 100% . NCAM1 2957 100% . NCAM2 2586 100% . NCAN 4022 98% . NCAPD2 4330 100% . NCAPD3 4637 100% . NCAPG 3138 97% . NCAPG2 3540 100% . NCAPH 2304 97% . NCAPH2 2013 91% . NCBP1 2573 100% . NCBP2 543 100% . NCCRP1 852 70% . NCDN 2218 97% . NCEH1 1367 100% . NCF1 1480 60% Chronic Granulomatous Disease NCF1 1480 60% Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b‐Positive, Type I NCF2 1901 100% Chronic Granulomatous Disease NCF2 1901 100% Chronic Granulomatous Disease, Autosomal Recessive Cytochrome b‐Positive, Type II NCF4 1301 97% . NCK1 1184 97% . NCK2 1155 100% . NCKAP1 3533 100% . NCKAP1L 3508 100% . NCKAP5 5803 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:364

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NCKAP5L 4127 100% . NCKIPSD 2325 89% . NCL 2189 100% . NCLN 1752 83% . NCOA1 4451 100% . NCOA2 4479 100% . NCOA3 4389 100% . NCOA4 2028 95% . NCOA5 1768 100% . NCOA6 6251 100% . NCOA7 3071 100% . NCOR1 7566 100% . NCOR2 7770 89% . NCR1 943 100% . NCR2 998 100% . NCR3 787 95% . NCS1 615 87% . NCSTN 2261 100% . NDC80 1993 100% . NDE1 1228 100% . NDEL1 1129 100% . NDFIP1 694 90% . NDFIP2 1039 70% . NDN 970 100% . NDNF 1719 100% . NDNL2 919 100% . NDOR1 1877 99% . NDP 410 91% Familial Exudative Vitreoretinopathy NDP 410 91% NDP‐Related Retinopathies NDRG1 1245 92% Charcot‐Marie‐Tooth Neuropathy Type 4 NDRG1 1245 92% Charcot‐Marie‐Tooth Neuropathy Type 4D NDRG2 1179 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:365

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NDRG3 1191 100% . NDRG4 1456 83% . NDST1 2810 100% . NDST2 2782 100% . NDST3 2674 100% . NDST4 2671 100% . NDUFA1 225 100% Leigh Syndrome (nuclear DNA mutation) NDUFA1 225 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA10 1167 93% . NDUFA11 1413 55% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA12 454 100% . NDUFA13 704 96% . NDUFA2 339 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA3 281 100% . NDUFA4 262 100% . NDUFA4L2 280 95% . NDUFA5 1078 100% . NDUFA6 477 100% . NDUFA7 358 93% . NDUFA8 535 100% . NDUFA9 1178 99% . NDUFAB1 487 100% . NDUFAF1 1000 100% . NDUFAF2 572 100% Leigh Syndrome (nuclear DNA mutation) NDUFAF2 572 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFAF3 575 100% . NDUFAF4 540 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFB1 330 100% . NDUFB10 535 91% . NDUFB11 519 88% . NDUFB2 330 99% . NDUFB3 305 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:366

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NDUFB4 468 100% . NDUFB5 613 100% . NDUFB6 403 100% . NDUFB7 426 65% . NDUFB8 581 100% . NDUFB9 556 100% . NDUFC1 243 84% . NDUFC2 373 89% . NDUFC2‐KCTD14 1001 96% . NDUFS1 2317 98% Leigh Syndrome (nuclear DNA mutation) NDUFS1 2317 98% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS2 1448 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS3 823 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS4 548 100% Leigh Syndrome (nuclear DNA mutation) NDUFS4 548 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS5 329 100% . NDUFS6 601 94% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS7 1551 77% Leigh Syndrome (nuclear DNA mutation) NDUFS7 1551 77% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS8 801 94% Leigh Syndrome (nuclear DNA mutation) NDUFS8 801 94% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFV1 1435 99% Leigh Syndrome (nuclear DNA mutation) NDUFV1 1435 99% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFV2 782 97% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFV3 1438 96% . NEB 24140 91% NEB‐Related Nemaline Myopathy NEB 24140 91% Nemaline Myopathy NEBL 3549 100% . NECAB1 1108 96% . NECAB2 1213 83% . NECAB3 1239 76% . NECAP1 860 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:367

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NECAP2 953 100% . NEDD1 2064 99% . NEDD4 4671 98% . NEDD4L 3080 99% . NEDD8 262 100% . NEDD8‐MDP1 610 100% . NEDD9 2619 100% . NEFH 3079 77% . NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 1 NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 1F/2E NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 2 NEFL 1649 100% Charcot‐Marie‐Tooth Neuropathy Type 2E/1F NEFM 2763 99% . NEGR1 1093 100% . NEIL1 1209 100% . NEIL2 1020 100% . NEIL3 1858 100% . NEK1 4003 100% . NEK10 2320 98% . NEK11 2023 100% . NEK2 1415 100% . NEK3 1655 100% . NEK4 2641 93% . NEK5 2207 96% . NEK6 1086 100% . NEK7 945 100% . NEK8 2139 98% Nephronophthisis 9 NEK9 3028 93% . NELF 1805 85% . NELL1 2520 100% . NELL2 2744 95% . NEMF 3363 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:368

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NENF 535 66% . NEO1 4562 97% . NES 4882 98% . NET1 1936 94% . NETO1 1680 100% . NETO2 1614 98% . NEU1 1314 97% Mucolipidosis I NEU2 1151 100% . NEU3 1398 93% . NEU4 1510 98% . NEURL 1749 79% . NEURL1B 1688 36% . NEURL2 866 98% . NEURL4 4805 99% . NEUROD1 1075 100% Maturity‐Onset Diabetes of the Young Type 6 NEUROD2 1153 99% . NEUROD4 1000 100% . NEUROD6 1018 100% . NEUROG1 718 100% . NEUROG2 823 100% . NEUROG3 649 100% . NEXN 2076 100% . NF1 8836 99% Familial Spinal Neurofibromatosis NF1 8836 99% Neurofibromatosis 1 NF1 8836 99% Neurofibromatosis‐Noonan Syndrome NF1 8836 99% NF2 1892 97% Neurofibromatosis 2 NFAM1 837 96% . NFASC 4474 98% . NFAT5 4706 100% . NFATC1 2967 94% . NFATC2 2940 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:369

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NFATC2IP 1292 71% . NFATC3 3498 97% . NFATC4 3270 94% . NFE2 1130 100% . NFE2L1 2396 100% . NFE2L2 1910 97% . NFE2L3 2101 81% . NFIA 1773 91% . NFIB 1673 100% . NFIC 1578 99% . NFIL3 1393 100% . NFIX 1406 98% . NFKB1 3009 100% . NFKB2 2886 91% . NFKBIA 978 100% . NFKBIB 1143 99% . NFKBID 1178 97% . NFKBIE 1527 68% . NFKBIL1 1198 87% . NFKBIZ 2205 90% . NFRKB 4075 100% . NFS1 1426 93% . NFU1 798 100% . NFX1 3583 98% . NFXL1 2824 93% . NFYA 1080 100% . NFYB 652 100% . NFYC 1482 100% . NGB 472 69% . NGDN 1000 100% . NGEF 2317 95% . NGF 730 100% Hereditary Sensory and Autonomic Neuropathy Type V UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:370

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NGFR 1308 95% . NGFRAP1 340 100% . NGLY1 2118 99% . NGRN 888 100% . NHEJ1 1004 100% . NHLH1 406 100% . NHLH2 412 100% . NHLRC1 1192 100% NHLRC1‐Related Lafora Disease NHLRC1 1192 100% Progressive Myoclonus Epilepsy, Lafora Type NHLRC2 2225 93% . NHLRC3 1072 100% . NHLRC4 860 100% . NHP2 540 100% Dyskeratosis Congenita NHP2 540 100% NHP2‐Related Dyskeratosis Congenita NHP2L1 406 100% . NHS 5060 90% . NHSL1 5185 100% . NHSL2 2552 84% . NICN1 666 100% . NID1 3824 99% . NID2 4333 100% . NIF3L1 1226 100% . NIM1 1323 100% . NIN 6666 97% . NINJ1 471 87% . NINJ2 698 100% . NINL 4241 100% . NIP7 563 100% . NIPA1 1010 92% Spastic Paraplegia 6 NIPA2 1103 100% . NIPAL1 1257 99% . NIPAL2 1228 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:371

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NIPAL3 1265 100% . NIPAL4 1425 89% Autosomal Recessive Congenital Ichthyosis NIPAL4 1425 89% NIPAL4‐Related Autosomal Recessive Congenital Ichthyosis NIPBL 8644 100% Cornelia de Lange Syndrome NIPBL 8644 100% NIPBL‐Related Cornelia de Lange Syndrome NIPSNAP1 896 81% . NIPSNAP3A 768 100% . NIPSNAP3B 768 99% . NISCH 4823 98% . NIT1 1398 100% . NIT2 1199 83% . NKAIN1 652 89% . NKAIN2 748 100% . NKAIN3 495 100% . NKAIN4 659 59% . NKAP 1284 100% . NKAPL 1213 100% . NKD1 1453 92% . NKD2 1629 83% . NKG7 514 100% . NKIRAS1 595 100% . NKIRAS2 588 100% . NKPD1 2515 68% . NKRF 2082 100% . NKTR 4453 100% . NKX1‐220% . NKX2‐1 1218 87% Benign Hereditary Chorea NKX2‐1 1218 87% Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress NKX2‐2 830 100% . NKX2‐3 1103 71% . NKX2‐4 1073 64% . NKX2‐5 1110 89% Heterotaxy Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:372

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NKX2‐5 1110 89% Isolated Nonsyndromic Congenital Heart Disease/Defects NKX2‐6 914 70% . NKX2‐8 728 86% . NKX3‐1 713 92% . NKX3‐2 1010 96% . NKX6‐1 1116 78% . NKX6‐2 846 70% . NKX6‐3 416 100% . NLE1 1514 100% . NLGN1 2492 100% . NLGN2 2536 88% . NLGN3 2575 100% Autism Spectrum Disorders NLGN3 2575 100% Autistic Disorder NLGN4X 2471 100% Autism Spectrum Disorders NLGN4X 2471 100% Autistic Disorder NLGN4Y 2625 99% . NLK 1628 100% . NLN 2475 96% . NLRC3 3452 95% . NLRC4 3107 100% . NLRC5 5853 99% . NLRP1 4565 97% . NLRP10 1976 100% . NLRP11 3138 100% . NLRP12 3328 98% Familial Cold Autoinflammatory Syndrome 2 NLRP13 3176 100% . NLRP14 3326 100% . NLRP2 3237 100% . NLRP3 3147 100% Chronic Infantile Neurological Cutaneous and Articular Syndrome NLRP3 3147 100% Familial Cold Autoinflammatory Syndrome 1 NLRP3 3147 100% Muckle‐Wells Syndrome NLRP4 3076 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:373

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NLRP5 3663 100% . NLRP6 2711 81% . NLRP7 3193 100% Hydatidiform Mole, Recurrent NLRP8 3187 100% . NLRP9 3012 100% . NLRX1 3336 100% . NMB 482 97% . NMBR 1185 100% . NMD3 1572 100% . NME1 554 100% . NME1‐NME2 836 100% . NME2 479 100% . NME3 530 86% . NME4 584 84% . NME5 659 100% . NME6 609 100% . NME7 1179 100% . NME9 861 100% . NMI 952 100% . NMNAT1 856 100% . NMNAT2 1042 99% . NMNAT3 775 100% . NMRAL1 920 100% . NMS 502 100% . NMT1 1539 100% . NMT2 1561 100% . NMU 561 81% . NMUR1 1293 99% . NMUR2 1264 100% . NNAT 258 87% . NNMT 807 100% . NNT 3345 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:374

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NOA1 2125 100% . NOB1 1275 100% . NOBOX 2120 97% . NOC2L 2326 98% . NOC3L 2487 100% . NOC4L 1611 83% . NOD1 2906 100% . NOD2 3182 98% Blau Syndrome NOD2 3182 98% Crohn Disease NODAL 1056 88% Heterotaxy Syndrome NODAL 1056 88% Visceral Heterotaxy 5, Autosomal NOG 703 100% Brachydactyly, Type B2 NOG 703 100% Multiple Synostoses Syndrome NOG 703 100% Proximal Symphalangism NOG 703 100% Stapes Ankylosis with Broad Thumb and Toes NOG 703 100% Tarsal‐Carpal Coalition Syndrome NOL10 2153 100% . NOL11 2232 100% . NOL12 666 99% . NOL3 690 94% . NOL4 1962 100% . NOL6 3545 99% . NOL7 826 84% . NOL8 3581 100% . NOL9 2157 91% . NOLC1 2185 100% . NOM1 2627 86% . NOMO1 3793 91% . NOMO2 3936 40% . NOMO3 3793 47% . NONO 1456 99% . NOP10 203 100% Dyskeratosis Congenita UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:375

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NOP10 203 100% NOP10‐Related Dyskeratosis Congenita NOP14 2646 98% . NOP16 1001 100% . NOP2 2631 100% . NOP56 1920 100% . NOP58 1650 100% . NOS1 4523 100% . NOS1AP 1615 100% . NOS2 3566 97% . NOS3 3956 90% Cardiovascular Disease Risk Factor (Nitric‐Oxide Synthase) NOSIP 938 99% . NOSTRIN 1760 100% . NOTCH1 7804 92% Left Ventricular Outflow Tract Obstruction (LVOTO) NOTCH2 7552 100% Alagille Syndrome NOTCH2 7552 100% NOTCH2‐Related Alagille Syndrome NOTCH2NL 763 100% . NOTCH3 7098 82% CADASIL NOTCH4 6372 96% . NOTO 768 50% . NOTUM 1535 87% . NOV 1094 100% . NOVA1 1626 99% . NOVA2 1495 84% . NOX1 1747 100% . NOX3 1759 100% . NOX4 1809 100% . NOX5 2430 100% . NOXA1 1508 80% . NOXO1 1163 82% . NOXRED1 1175 100% . NPAS1 1817 80% . NPAS2 2583 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:376

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NPAS3 2907 92% . NPAS4 2441 100% . NPAT 4360 100% . NPB 386 37% . NPBWR1 991 99% . NPBWR2 1006 100% . NPC1 3988 98% Niemann‐Pick Disease Type C NPC1 3988 98% Niemann‐Pick Disease Type C1 NPC1L1 4160 96% . NPC2 476 100% Niemann‐Pick Disease Type C NPC2 476 100% Niemann‐Pick Disease Type C2 NPDC1 1360 81% . NPEPL1 2035 85% . NPEPPS 2852 99% . NPFF 465 100% . NPFFR1 1306 89% . NPFFR2 1591 100% . NPHP1 2343 100% Joubert Syndrome NPHP1 2343 100% Nephronophthisis 1 NPHP1 2343 100% NPHP1‐Related Joubert Syndrome NPHP1 2343 100% Senior‐Loken Syndrome NPHP1 2343 100% Senior‐Loken Syndrome 1 NPHP3 4101 100% Nephronophthisis 3 NPHP3 4101 100% Renal‐Hepatic‐Pancreatic Dysplasia NPHP4 4397 100% Nephronophthisis 4 NPHP4 4397 100% Senior‐Loken Syndrome NPHP4 4397 100% Senior‐Loken Syndrome 4 NPHS1 3842 98% Congenital Finnish Nephrosis NPHS2 1184 94% Steroid‐Resistant Nephrotic Syndrome NPIP 1085 42% . NPIPL3 3887 34% . NPL 1265 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:377

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NPLOC4 2080 99% . NPM1 942 100% . NPM2 677 97% . NPM3 557 100% . NPNT 1895 88% . NPPA 468 100% . NPPB 498 100% . NPPC 389 77% . NPR1 3376 84% . NPR2 3366 100% Acromesomelic Dysplasia, Maroteaux Type NPR3 1783 93% . NPRL2 1231 99% . NPRL3 1761 95% . NPS 282 100% . NPSR1 1265 100% . NPTN 1229 100% . NPTX1 1319 90% . NPTX2 1316 70% . NPTXR 1523 64% . NPVF 603 100% . NPW 506 48% . NPY 306 100% . NPY1R 1163 100% . NPY2R 1150 100% . NPY5R 1342 100% . NQO1 849 100% . NQO2 720 100% . NR0B1 1421 98% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis NR0B1 1421 98% Complex Deficiency NR0B1 1421 98% Isolated X‐Linked Adrenal Hypoplasia Congenita NR0B1 1421 98% NR0B1‐Related 46,XY DSD and 46,XY CGD NR0B1 1421 98% X‐Linked Adrenal Hypoplasia Congenita UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:378

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NR0B2 782 100% . NR1D1 2040 100% . NR1D2 1772 99% . NR1H2 1415 90% . NR1H3 1450 98% . NR1H4 1580 100% . NR1I2 1458 100% . NR1I3 1401 100% . NR2C1 1942 100% . NR2C2 1950 100% . NR2C2AP 440 100% . NR2E1 1194 100% . NR2E3 1270 96% Enhanced S‐Cone Syndrome NR2E3 1270 96% NR2E3‐Related Retinitis Pigmentosa NR2E3 1270 96% Retinitis Pigmentosa, Autosomal Recessive NR2F1 1284 90% . NR2F2 1304 91% . NR2F6 1231 65% . NR3C1 2421 100% Glucocorticoid Resistance NR3C2 2999 100% Type 1, Dominant NR4A1 1947 100% . NR4A2 1821 100% Parkinson Disease NR4A3 2020 86% . NR5A1 1410 97% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis NR5A1 1410 97% NR5A1‐Related 46,XY DSD and 46,XY CGD NR5A2 1658 100% . NR6A1 1483 92% . NRAP 5385 100% . NRARP 349 99% . NRAS 586 100% Noonan Syndrome NRAS 586 100% NRAS‐Related Noonan Syndrome NRBF2 935 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:379

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NRBP1 1676 100% . NRBP2 1794 59% . NRCAM 4047 100% . NRD1 3792 100% . NREP 364 61% . NRF1 1552 100% . NRG1 3653 88% . NRG2 2702 66% . NRG3 2371 97% . NRG4 368 100% . NRGN 245 96% . NRIP1 3481 100% . NRIP2 870 100% . NRIP3 754 77% . NRK 29 0% . NRL 722 75% NRL‐Related Retinitis Pigmentosa NRL 722 75% Retinitis Pigmentosa, Autosomal Dominant NRM 829 86% . NRN1 441 100% . NRN1L 510 100% . NRP1 3178 98% . NRP2 3176 100% . NRSN1 596 100% . NRSN2 623 100% . NRTN 602 66% Hirschsprung Disease NRTN 602 66% NRTN‐Related Hirschsprung Disease NRXN1 4985 100% Pitt‐Hopkins‐Like Syndrome 2 NRXN2 5514 83% . NRXN3 4379 97% . NSA2 807 100% . NSD1 8239 100% NSDHL 1150 100% NSDHL‐Related Disorders UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:380

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NSF 2332 55% . NSFL1C 1149 93% . NSL1 959 91% . NSMAF 3034 93% . NSMCE1 838 100% . NSMCE2 768 100% . NSMCE4A 1198 81% . NSRP1 1706 99% . NSUN2 2380 97% . NSUN3 1047 100% . NSUN4 1179 100% . NSUN5 1462 100% . NSUN6 1454 100% . NSUN7 2201 100% . NT5C 626 73% . NT5C1A 1131 100% . NT5C1B 1924 100% . NT5C1B‐RDH14 2546 100% . NT5C2 1754 100% . NT5C3 1206 96% . NT5C3L 912 100% . NT5DC1 1481 100% . NT5DC2 2037 88% . NT5DC3 1703 88% . NT5E 1805 100% . NT5M 762 98% . NTAN1 973 91% . NTF3 821 100% . NTF4 637 97% . NTHL1 963 99% . NTM 1203 100% . NTN1 1839 79% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:381

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NTN3 1767 72% . NTN4 1927 97% . NTN5 1523 79% . NTNG1 1794 100% . NTNG2 1625 92% . NTPCR 593 100% . NTRK1 2667 90% Hereditary Sensory and Autonomic Neuropathy Type IV NTRK1 2667 90% NTRK1‐Related Familial Medullary Carcinoma NTRK2 2664 100% . NTRK3 2854 100% . NTS 529 100% . NTSR1 1273 98% . NTSR2 1249 81% . NUAK1 2014 100% . NUAK2 2047 100% . NUB1 2091 100% . NUBP1 1007 95% . NUBP2 844 97% . NUBPL 1005 99% . NUCB1 1586 100% . NUCB2 1311 100% . NUCKS1 760 100% . NUDC 1032 92% . NUDCD1 1827 98% . NUDCD2 490 100% . NUDCD3 1110 100% . NUDT1 556 89% . NUDT10 503 100% . NUDT11 503 100% . NUDT12 1413 100% . NUDT13 1091 100% . NUDT14 689 88% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:382

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NUDT15 507 98% . NUDT16 877 86% . NUDT16L1 978 67% . NUDT17 1022 86% . NUDT18 1062 84% . NUDT19 1140 86% . NUDT2 452 100% . NUDT21 712 100% . NUDT22 932 100% . NUDT3 539 100% . NUDT4 566 79% . NUDT5 797 100% . NUDT6 1048 100% . NUDT7 735 99% . NUDT8 745 91% . NUDT9 1085 100% . NUF2 1447 100% . NUFIP1 1528 100% . NUFIP2 2104 100% . NUMA1 6466 100% . NUMB 1996 100% . NUMBL 1870 82% . NUP107 2890 100% . NUP133 3575 100% . NUP153 4516 100% . NUP155 4324 99% . NUP160 4609 100% . NUP188 5588 99% . NUP205 6211 100% . NUP210 5824 100% . NUP210L 5827 100% . NUP214 6420 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:383

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NUP35 1017 100% . NUP37 1017 100% . NUP43 1358 100% . NUP50 1435 100% . NUP54 1720 98% . NUP62 1573 100% . NUP62CL 621 100% . NUP85 2173 100% . NUP88 2294 100% . NUP93 2544 100% . NUP98 5613 100% . NUPL1 1887 100% . NUPL2 1300 100% . NUPR1 311 100% . NUS1 902 60% . NUSAP1 1370 100% . NUTF2 400 100% . NVL 2665 100% . NWD1 4657 99% . NXF1 1999 100% . NXF2 3930 30% . NXF2B 3930 30% . NXF3 1672 100% . NXF5 1170 100% . NXN 1341 95% . NXNL1 647 77% . NXNL2 589 81% . NXPH1 824 100% . NXPH2 803 94% . NXPH3 767 96% . NXPH4 935 99% . NXT1 427 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:384

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

NXT2 614 100% . NYAP1 2553 90% . NYAP2 1986 100% . NYNRIN 5729 100% . NYX 1454 68% Congenital Stationary Night Blindness, X‐Linked NYX 1454 68% NYX‐Related X‐Linked Congenital Stationary Night Blindness O3FAR1 1150 97% . OAF 838 89% . OAS1 1462 100% . OAS2 2290 100% . OAS3 3328 100% . OASL 1569 100% . OAT 1356 100% Ornithine Aminotransferase Deficiency OAZ1 708 100% . OAZ2 585 100% . OAZ3 951 100% . OBFC1 1143 100% . OBFC2A 639 100% . OBFC2B 660 100% . OBP2A 603 92% . OBP2B 537 92% . OBSCN 25720 97% . OBSL1 5927 92% 3‐M Syndrome OBSL1 5927 92% 3‐M Syndrome, OBSL1‐Related OC90 1533 100% . OCA2 2609 100% Type 2 OCEL1 819 100% . OCIAD1 788 100% . OCIAD2 489 100% . OCLM 1 0% . OCLN 1601 95% . OCM 346 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:385

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OCM2 346 100% . OCRL 2883 96% Dent Disease OCRL 2883 96% Dent Disease 2 OCRL 2883 96% Lowe Syndrome ODAM 880 100% . ODC1 1426 100% . ODF1 761 100% . ODF2 2996 100% . ODF2L 2155 100% . ODF3 789 96% . ODF3B 870 67% . ODF3L1 841 100% . ODF3L2 886 57% . ODF4 786 100% . ODZ1 8327 100% . ODZ2 7907 100% . ODZ3 8208 100% . ODZ4 8430 95% . OFD1 3131 100% Joubert Syndrome OFD1 3131 100% OFD1‐Related Joubert Syndrome OFD1 3131 100% Oral‐Facial‐Digital Syndrome Type I OFD1 3131 100% Simpson‐Golabi‐Behmel Syndrome, Type 2 OGDH 3333 100% . OGDHL 3121 100% . OGFOD1 1681 100% . OGFOD2 1088 97% . OGFR 2146 80% . OGFRL1 1384 90% . OGG1 1773 100% . OGN 921 100% . OGT 3382 100% . OIP5 710 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:386

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OIT3 1674 100% . OLA1 1297 100% . OLAH 1101 85% . OLFM1 1438 100% . OLFM2 1389 95% . OLFM3 1401 100% . OLFM4 1553 100% . OLFML1 1221 100% . OLFML2A 1991 94% . OLFML2B 2288 100% . OLFML3 1233 100% . OLIG1 820 38% . OLIG2 976 55% . OLIG3 823 99% . OLR1 846 100% . OMA1 1607 100% . OMD 1274 100% . OMG 1327 100% . OMP 1 0% . ONECUT1 1406 99% . ONECUT2 1523 90% . ONECUT3 1493 33% . OOEP 462 100% . OPA1 3169 99% Optic Atrophy Type 1 OPA1 3169 99% Optic Atrophy Type 1 and Deafness OPA3 953 100% 3‐Methylglutaconic Aciduria Type 3 OPA3 953 100% Optic Atrophy Type 3 OPALIN 467 100% . OPCML 1131 100% . OPHN1 2501 100% X‐Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance OPLAH 3973 97% . OPN1LW 1119 86% Blue‐Mono‐Cone‐Monochromatic Type Colorblindness UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:387

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OPN1LW 1119 86% Red‐Green Color Vision Defects OPN1MW 2238 36% Blue‐Mono‐Cone‐Monochromatic Type Colorblindness OPN1MW 2238 36% Red‐Green Color Vision Defects OPN1MW2 2238 36% . OPN1SW 1067 100% . OPN3 1225 96% . OPN4 1514 99% . OPN5 1099 99% . OPRD1 1131 92% . OPRK1 1155 100% . OPRL1 1153 100% . OPRM1 2201 86% . OPTC 1065 100% . OPTN 1786 100% Primary Open Angle Glaucoma (Adult Onset) OR10A2 916 100% . OR10A3 949 100% . OR10A4 952 100% . OR10A5 970 100% . OR10A6 949 100% . OR10A7 955 100% . OR10AD1 958 100% . OR10AG1 910 100% . OR10C1 950 99% . OR10G2 937 99% . OR10G3 946 100% . OR10G4 940 100% . OR10G7 940 100% . OR10G8 940 100% . OR10G9 940 100% . OR10H1 961 100% . OR10H2 952 100% . OR10H3 955 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:388

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR10H4 955 100% . OR10H5 952 100% . OR10J1 967 100% . OR10J3 994 100% . OR10J5 934 100% . OR10K1 946 100% . OR10K2 943 100% . OR10P1 946 100% . OR10Q1 964 100% . OR10R2 1012 100% . OR10S1 1000 100% . OR10T2 949 100% . OR10V1 934 100% . OR10W1 922 100% . OR10X1 985 100% . OR10Z1 946 100% . OR11A1 959 99% . OR11G2 1042 100% . OR11H1 985 85% . OR11H12 985 100% . OR11H2 985 100% . OR11H4 979 100% . OR11H6 997 100% . OR11L1 973 100% . OR12D2 933 99% . OR12D3 960 99% . OR13A1 991 100% . OR13C2 961 100% . OR13C3 1048 100% . OR13C4 961 100% . OR13C5 961 100% . OR13C8 967 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:389

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR13C9 961 100% . OR13D1 1045 100% . OR13F1 964 100% . OR13G1 928 100% . OR13H1 931 100% . OR13J1 943 100% . OR14A16 934 100% . OR14C36 943 100% . OR14I1 940 100% . OR14J1 976 99% . OR1A1 934 100% . OR1A2 934 100% . OR1B1 961 100% . OR1C1 949 100% . OR1D2 943 100% . OR1D5 997 100% . OR1E1 949 100% . OR1E2 976 100% . OR1F1 943 100% . OR1G1 1060 100% . OR1I1 1072 100% . OR1J1 973 100% . OR1J2 946 100% . OR1J4 947 100% . OR1K1 955 100% . OR1L1 1087 100% . OR1L3 979 100% . OR1L4 940 100% . OR1L6 1048 100% . OR1L8 934 100% . OR1M1 955 100% . OR1N1 943 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:390

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR1N2 997 100% . OR1Q1 949 100% . OR1S1 982 100% . OR1S2 982 100% . OR2A1 1874 62% . OR2A12 937 100% . OR2A14 937 100% . OR2A2 961 100% . OR2A25 937 100% . OR2A4 937 81% . OR2A42 1874 62% . OR2A5 940 100% . OR2A7 937 97% . OR2AE1 994 100% . OR2AG1 955 100% . OR2AG2 955 100% . OR2AK2 1012 100% . OR2AT4 967 100% . OR2B11 958 100% . OR2B2 1078 100% . OR2B3 953 99% . OR2B6 946 100% . OR2C1 943 100% . OR2C3 967 100% . OR2D2 931 100% . OR2D3 997 100% . OR2F1 958 100% . OR2F2 958 100% . OR2G2 958 100% . OR2G3 934 100% . OR2G6 955 100% . OR2H1 962 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:391

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR2H2 949 99% . OR2J2 950 99% . OR2J3 948 99% . OR2K2 1042 100% . OR2L13 943 100% . OR2L2 943 100% . OR2L3 943 100% . OR2L8 943 100% . OR2M2 1048 100% . OR2M3 943 100% . OR2M4 940 100% . OR2M5 943 100% . OR2M7 943 100% . OR2S2 964 100% . OR2T1 1114 100% . OR2T10 943 100% . OR2T11 955 100% . OR2T12 967 100% . OR2T2 979 99% . OR2T27 958 98% . OR2T29 952 37% . OR2T3 961 100% . OR2T33 967 100% . OR2T34 961 100% . OR2T35 976 70% . OR2T4 1051 100% . OR2T5 952 41% . OR2T6 931 100% . OR2T8 943 97% . OR2V2 952 100% . OR2W1 974 99% . OR2W3 949 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:392

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR2W5 1 0% . OR2Y1 940 100% . OR2Z1 949 100% . OR3A1 970 100% . OR3A2 970 100% . OR3A3 970 100% . OR4A15 1039 100% . OR4A16 991 100% . OR4A47 934 100% . OR4A5 952 100% . OR4B1 934 100% . OR4C11 937 100% . OR4C12 934 100% . OR4C13 934 100% . OR4C15 1117 100% . OR4C16 937 100% . OR4C3 994 100% . OR4C45 949 100% . OR4C46 934 100% . OR4C6 934 100% . OR4D1 937 100% . OR4D10 1 0% . OR4D11 940 100% . OR4D2 928 100% . OR4D5 961 100% . OR4D6 949 100% . OR4D9 949 100% . OR4E2 946 100% . OR4F15 943 100% . OR4F16 2829 0% . OR4F17 976 91% . OR4F21 943 57% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:393

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR4F29 2829 0% . OR4F3 2829 0% . OR4F4 922 70% . OR4F5 922 57% . OR4F6 943 100% . OR4K1 940 100% . OR4K13 919 100% . OR4K14 937 100% . OR4K15 1051 100% . OR4K17 1036 100% . OR4K2 949 100% . OR4K5 976 100% . OR4L1 943 100% . OR4M1 946 100% . OR4M2 946 100% . OR4N2 928 100% . OR4N4 955 100% . OR4N5 931 100% . OR4P4 943 100% . OR4Q3 946 100% . OR4S1 934 100% . OR4S2 940 100% . OR4X1 922 100% . OR4X2 916 100% . OR51A2 946 79% . OR51A4 946 100% . OR51A7 943 100% . OR51B2 943 100% . OR51B4 937 100% . OR51B5 943 100% . OR51B6 943 100% . OR51D1 979 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:394

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR51E1 961 100% . OR51E2 967 100% . OR51F1 964 100% . OR51F2 1033 100% . OR51G1 970 100% . OR51G2 949 100% . OR51I1 949 100% . OR51I2 943 100% . OR51L1 952 100% . OR51M1 985 100% . OR51Q1 958 100% . OR51S1 976 100% . OR51T1 1069 100% . OR51V1 970 100% . OR52A1 943 100% . OR52A5 955 100% . OR52B2 1 0% . OR52B4 949 100% . OR52B6 1012 100% . OR52D1 961 100% . OR52E2 982 100% . OR52E4 943 100% . OR52E6 951 100% . OR52E8 958 100% . OR52H1 979 100% . OR52I1 1036 100% . OR52I2 1057 100% . OR52J3 940 100% . OR52K1 949 100% . OR52K2 949 100% . OR52L1 994 100% . OR52M1 958 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:395

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR52N1 967 99% . OR52N2 970 100% . OR52N4 970 100% . OR52N5 979 95% . OR52R1 1189 100% . OR52W1 967 100% . OR56A1 961 100% . OR56A3 952 100% . OR56A4 1102 100% . OR56A5 738 100% . OR56B1 979 100% . OR56B4 964 100% . OR5A1 952 100% . OR5A2 979 100% . OR5AC2 934 100% . OR5AK2 934 100% . OR5AN1 940 100% . OR5AP2 955 100% . OR5AR1 937 100% . OR5AS1 979 100% . OR5AU1 1093 100% . OR5B12 949 100% . OR5B17 949 100% . OR5B2 934 100% . OR5B21 934 100% . OR5B3 949 100% . OR5C1 967 100% . OR5D13 949 100% . OR5D14 949 100% . OR5D16 991 100% . OR5D18 952 100% . OR5F1 949 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:396

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR5H1 946 100% . OR5H14 937 100% . OR5H15 946 100% . OR5H2 949 100% . OR5H6 982 100% . OR5I1 949 100% . OR5J2 943 100% . OR5K1 931 100% . OR5K2 955 100% . OR5K3 970 100% . OR5K4 970 100% . OR5L1 940 100% . OR5L2 940 100% . OR5M1 1 0% . OR5M10 1 0% . OR5M11 1 0% . OR5M3 928 100% . OR5M8 940 100% . OR5M9 937 100% . OR5P2 973 100% . OR5P3 940 100% . OR5R1 979 100% . OR5T1 985 100% . OR5T2 1084 100% . OR5T3 1027 100% . OR5V1 974 100% . OR5W2 937 100% . OR6A2 988 100% . OR6B1 940 100% . OR6B2 943 100% . OR6B3 1000 100% . OR6C1 943 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:397

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR6C2 943 100% . OR6C3 940 100% . OR6C4 934 100% . OR6C6 949 100% . OR6C65 943 100% . OR6C68 958 100% . OR6C70 943 100% . OR6C74 943 100% . OR6C75 943 100% . OR6C76 943 100% . OR6F1 931 100% . OR6K2 979 100% . OR6K3 1000 100% . OR6K6 1036 100% . OR6M1 946 100% . OR6N1 943 100% . OR6N2 958 100% . OR6P1 958 100% . OR6Q1 958 100% . OR6S1 1000 100% . OR6T1 976 100% . OR6V1 946 100% . OR6X1 943 100% . OR6Y1 982 100% . OR7A10 934 100% . OR7A17 934 100% . OR7A5 964 100% . OR7C1 967 100% . OR7C2 964 100% . OR7D2 943 100% . OR7D4 943 100% . OR7E24 1024 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:398

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR7G1 920 100% . OR7G2 1042 100% . OR7G3 943 100% . OR8A1 985 100% . OR8B12 937 100% . OR8B2 946 100% . OR8B3 946 100% . OR8B4 934 100% . OR8B8 940 100% . OR8D1 931 100% . OR8D2 940 100% . OR8D4 949 100% . OR8G1 937 100% . OR8G2 1 0% . OR8G5 157 100% . OR8H1 940 100% . OR8H2 943 100% . OR8H3 943 100% . OR8I2 937 100% . OR8J1 955 100% . OR8J3 952 100% . OR8K1 964 100% . OR8K3 943 100% . OR8K5 928 100% . OR8S1 1088 100% . OR8U1 934 100% . OR8U8 935 100% . OR9A2 937 100% . OR9A4 949 100% . OR9G1 922 100% . OR9G4 988 100% . OR9G9 922 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:399

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OR9I1 949 100% . OR9K2 1012 100% . OR9Q1 937 100% . OR9Q2 949 100% . ORAI1 920 99% . ORAI2 773 100% . ORAI3 896 96% . ORAOV1 434 100% . ORC1 2650 100% Meier‐Gorlin Syndrome 1 ORC2 1798 100% . ORC3 2219 100% . ORC4 1363 100% Meier‐Gorlin Syndrome 2 ORC5 1462 100% . ORC6 787 95% Meier‐Gorlin Syndrome 3 ORM1 630 98% . ORM2 1041 88% . ORMDL1 478 100% . ORMDL2 474 100% . ORMDL3 474 100% . OS9 2067 100% . OSBP 2480 90% . OSBP2 2954 98% . OSBPL10 2403 93% . OSBPL11 2296 100% . OSBPL1A 2961 100% . OSBPL2 1565 100% . OSBPL3 2935 100% . OSBPL5 2724 95% . OSBPL6 3126 100% . OSBPL7 2704 96% . OSBPL8 2763 100% . OSBPL9 2503 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:400

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OSCAR 1022 65% . OSCP1 1340 100% . OSGEP 1052 100% . OSGEPL1 1345 100% . OSGIN1 1486 100% . OSGIN2 1674 97% . OSM 771 100% . OSMR 3047 100% . OSR1 809 100% . OSR2 1065 100% . OST4 1 0% . OSTalpha 1286 90% . OSTBETA 399 75% . OSTC 477 100% . OSTF1 685 100% . OSTM1 1029 93% OSTM1‐Related Autosomal Recessive Osteopetrosis OSTN 414 100% . OTC 1105 100% Ornithine Transcarbamylase Deficiency OTOA 3620 79% DFNB22 Nonsyndromic Hearing Loss and Deafness OTOA 3620 79% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive OTOF 6561 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive OTOF 6561 99% OTOF‐Related Deafness OTOGL 4872 100% . OTOL1 1450 100% . OTOP1 1863 95% . OTOP2 1713 100% . OTOP3 1819 94% . OTOR 403 100% . OTOS 282 100% . OTP 990 93% . OTUB1 1144 86% . OTUB2 729 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:401

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

OTUD1 1450 45% . OTUD3 1229 83% . OTUD4 3270 100% . OTUD5 1752 75% . OTUD6A 871 100% . OTUD6B 1000 100% . OTUD7A 2846 74% . OTUD7B 2576 100% . OTX1 1192 100% . OTX2 906 100% Anophthalmia/Microphthalmia OTX2 906 100% Syndromic Microphthalmia 5 OVCA2 692 89% . OVCH1 3517 100% . OVCH2 1768 100% . OVGP1 2328 100% . OVOL1 820 99% . OVOL2 844 76% . OXA1L 1533 100% . OXCT1 1631 100% 3‐Oxoacid CoA Deficiency OXCT2 1558 68% . OXER1 1276 99% . OXGR1 1018 100% . OXNAD1 967 100% . OXR1 2960 95% . OXSM 1388 100% . OXSR1 1688 100% . OXT 390 93% . OXTR 1178 92% . P2RX1 1248 100% . P2RX2 1539 99% . P2RX3 1242 99% . P2RX4 1215 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:402

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

P2RX5 1433 100% . P2RX6 1374 100% . P2RX7 1897 98% . P2RY1 1126 100% . P2RY10 1024 100% . P2RY11 1133 100% . P2RY12 1033 100% . P2RY13 1073 100% . P2RY14 1021 100% . P2RY2 1138 100% . P2RY4 1102 100% . P2RY6 991 100% . P2RY8 1085 100% . P4HA1 1740 100% . P4HA2 1822 100% . P4HA3 1874 94% . P4HB 1624 91% . P4HTM 1806 89% . PA2G4 1237 100% . PAAF1 1227 96% . PABPC1 1967 100% . PABPC1L 1901 99% . PABPC1L2A 607 21% . PABPC1L2B 607 2% . PABPC3 1900 100% . PABPC4 2043 100% . PABPC4L 1117 48% . PABPC5 1153 100% . PABPN1 959 77% Oculopharyngeal Muscular Dystrophy PABPN1L 1029 90% . PACRG 915 87% . PACRGL 758 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:403

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PACS1 2988 96% . PACS2 2815 89% . PACSIN1 1371 97% . PACSIN2 1513 100% . PACSIN3 1311 100% . PADI1 2056 100% . PADI2 2066 96% . PADI3 2059 100% . PADI4 2056 100% . PADI6 17 0% . PAEP 639 80% . PAF1 1728 98% . PAFAH1B1 1273 100% LIS1‐Associated Lissencephaly/Subcortical Band Heterotopia PAFAH1B2 917 77% . PAFAH1B3 716 95% . PAFAH2 1234 100% . PAG1 1323 100% . PAGE1 461 100% . PAGE2 352 94% . PAGE2B 352 94% . PAGE4 325 100% . PAGE5 413 95% . PAH 1411 100% Hydroxylase Deficiency PAICS 1339 98% . PAIP1 1484 82% . PAIP2 396 100% . PAIP2B 384 100% . PAK1 1747 100% . PAK1IP1 1219 100% . PAK2 1632 100% . PAK3 1807 100% X‐Linked Mental Retardation 30 PAK4 1808 88% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:404

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PAK6 2078 100% . PAK7 2192 100% . PALB2 3613 100% Fanconi Anemia PALB2 3613 100% PALB2‐Related Cancer Susceptibility PALB2 3613 100% PALB2‐Related Fanconi Anemia PALB2 3613 100% Pancreatic Cancer Susceptibility 3 PALLD 4224 87% Pancreatic Cancer Susceptibility 1 PALM 1200 80% . PALM2 1275 99% . PALM2‐AKAP2 3358 100% . PALM3 2046 63% . PALMD 1688 100% . PAM 3029 100% . PAM16 398 100% . PAMR1 2262 97% . PAN2 3709 100% . PAN3 2740 86% . PANK1 1857 95% . PANK2 1741 95% ‐Associated Neurodegeneration PANK3 1141 100% . PANK4 2671 96% . PANX1 1301 100% . PANX2 2046 76% . PANX3 1195 100% . PAOX 1647 89% . PAPD4 1511 100% . PAPD5 2149 90% . PAPD7 1677 100% . PAPL 1365 100% . PAPLN 3913 96% . PAPOLA 2326 100% . PAPOLB 1915 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:405

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PAPOLG 2299 100% . PAPPA 4972 92% . PAPPA2 5517 100% . PAPSS1 1923 100% . PAPSS2 1914 100% . PAQR3 960 100% . PAQR4 834 99% . PAQR5 1021 100% . PAQR6 1533 98% . PAQR7 1045 100% . PAQR8 1084 100% . PAQR9 1138 92% . PARD3 4206 98% . PARD3B 3762 93% . PARD6A 1053 100% . PARD6B 1131 94% . PARD6G 1143 79% . PARG 1543 98% . PARK2 1451 100% Type of Juvenile Parkinson Disease PARK2 1451 100% Parkinson Disease PARK7 594 100% PARK7‐Related Parkinson Disease PARK7 594 100% Parkinson Disease PARL 1191 100% . PARM1 949 100% . PARN 2016 97% . PARP1 3319 100% . PARP10 3122 97% . PARP11 1189 93% . PARP12 2154 86% . PARP14 5605 100% . PARP15 2154 95% . PARP16 996 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:406

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PARP2 1846 100% . PARP3 1672 99% . PARP4 5307 100% . PARP6 1981 100% . PARP8 2676 100% . PARP9 2658 100% . PARPBP 1780 91% . PARS2 1432 100% . PARVA 1171 100% . PARVB 1379 92% . PARVG 1337 80% . PASD1 2382 100% . PASK 4139 100% . PATE1 401 100% . PATE2 358 100% . PATE3 310 0% . PATE4 309 0% . PATL1 2389 85% . PATL2 1692 8% . PATZ1 2367 100% . PAWR 1047 62% . PAX1 1849 83% . PAX2 1453 100% Anophthalmia/Microphthalmia PAX2 1453 100% Renal Coloboma Syndrome PAX3 1687 99% Craniofacial‐Deafness‐Hand Syndrome PAX3 1687 99% Waardenburg Syndrome Type I PAX3 1687 99% Waardenburg Syndrome Type III PAX4 1079 100% Maturity‐Onset Diabetes of the Young Type 9 PAX5 1231 100% . PAX6 1355 100% Aniridia PAX6 1355 100% Aniridia, Cerebellar Ataxia, And Mental Retardation PAX6 1355 100% Aniridia‐Wilms Tumor Contiguous Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:407

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome (280725) PAX6 1355 100% Hereditary Keratitis PAX6 1355 100% Isolated Aniridia PAX6 1355 100% PAX6‐Related Anophthalmia PAX6 1355 100% Peters Anomaly PAX6 1355 100% Peters Anomaly with Cataract PAX6 1355 100% Wilms Tumor‐Aniridia‐Genital Anomalies‐Retardation Syndrome PAX7 1715 100% . PAX8 1422 99% Congenital Hypothyroidism PAX8 1422 99% Congenital Hypothyroidism, Nongoitrous 2 PAX9 1042 98% Tooth Agenesis, Selective, 3 PAXIP1 3418 94% . PBK 997 100% . PBLD 996 100% . PBOV1 1 0% . PBRM1 5021 100% . PBX1 1330 86% . PBX2 1383 96% . PBX3 1341 100% . PBX4 1157 85% . PBXIP1 2407 100% . PC 3617 99% Pyruvate Carboxylase Deficiency PCBD1 331 98% BH4‐Deficient Hyperphenylalaninemia D PCBD2 409 78% . PCBP1 1075 100% . PCBP2 1157 100% . PCBP3 1269 100% . PCBP4 1472 96% . PCCA 2283 93% PCCA‐Related PCCA 2283 93% Propionic Acidemia PCCB 1744 93% PCCB‐Related Propionic Acidemia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:408

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PCCB 1744 93% Propionic Acidemia PCDH1 3863 99% . PCDH10 3143 100% . PCDH11X 4202 99% . PCDH11Y 4101 100% . PCDH12 3571 100% . PCDH15 7672 100% DFNB23 Nonsyndromic Hearing Loss and Deafness PCDH15 7672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PCDH15 7672 100% Usher Syndrome Type 1 PCDH15 7672 100% Usher Syndrome Type 1F PCDH17 3504 100% . PCDH18 3424 100% . PCDH19 3471 99% PCDH19‐Related X‐Linked Female‐Limited Epilepsy with Mental Retardation PCDH20 2864 100% . PCDH7 3796 94% . PCDH8 3225 88% . PCDH9 3793 100% . PCDHA1 2899 100% . PCDHA10 3010 98% . PCDHA11 2908 100% . PCDHA12 2854 100% . PCDHA13 2899 100% . PCDHA2 2950 100% . PCDHA3 2950 100% . PCDHA4 2872 100% . PCDHA5 2926 100% . PCDHA6 2887 100% . PCDHA7 2845 99% . PCDHA8 2920 100% . PCDHA9 3004 99% . PCDHAC1 2932 100% . PCDHAC2 3130 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:409

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PCDHB1 2461 100% . PCDHB10 2407 100% . PCDHB11 2398 100% . PCDHB12 2392 100% . PCDHB13 2401 100% . PCDHB14 2401 100% . PCDHB15 2368 100% . PCDHB16 2335 100% . PCDHB2 2401 100% . PCDHB3 2395 100% . PCDHB4 2392 100% . PCDHB5 2392 100% . PCDHB6 2389 100% . PCDHB7 2386 100% . PCDHB8 2410 100% . PCDHB9 1 0% . PCDHGA1 2863 100% . PCDHGA10 2827 100% . PCDHGA11 2824 100% . PCDHGA12 2815 100% . PCDHGA2 2863 100% . PCDHGA3 2815 100% . PCDHGA4 389 99% . PCDHGA5 389 99% . PCDHGA6 389 99% . PCDHGA7 389 99% . PCDHGA8 2815 100% . PCDHGA9 389 99% . PCDHGB1 389 99% . PCDHGB2 389 99% . PCDHGB3 389 99% . PCDHGB4 389 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:410

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PCDHGB5 389 99% . PCDHGB6 389 99% . PCDHGB7 2806 100% . PCDHGC3 2821 100% . PCDHGC4 2833 100% . PCDHGC5 2851 100% . PCDP1 1859 100% . PCF11 4732 100% . PCGF1 816 99% . PCGF2 1071 93% . PCGF3 1174 93% . PCGF5 807 100% . PCGF6 1093 98% . PCID2 1418 100% . PCIF1 2175 99% . PCK1 1905 100% Phosphoenolpyruvate Carboxykinase Deficiency PCK2 2055 99% Phosphoenolpyruvate Carboxykinase Deficiency PCLO 15740 100% . PCM1 6226 100% . PCMT1 903 94% . PCMTD1 1094 100% . PCMTD2 1106 100% . PCNA 810 100% . PCNP 557 88% . PCNT 10219 99% Microcephalic Osteodysplastic , Type II PCNT 10219 99% Seckel Syndrome PCNX 7170 100% . PCNXL2 6720 100% . PCNXL3 6285 96% . PCOLCE 1386 94% . PCOLCE2 1284 97% . PCP2 427 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:411

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PCP4 201 100% . PCP4L1 219 94% . PCSK1 2361 98% Monogenic Non‐Syndromic Obesity, Autosomal Recessive PCSK1 2361 98% Proprotein Convertase‐1 Deficiency PCSK1N 795 13% . PCSK2 1965 100% . PCSK4 2399 83% . PCSK5 6024 100% . PCSK6 3384 89% . PCSK7 2418 97% . PCSK9 2127 91% Familial Hypercholesterolemia, Autosomal Dominant, 3 PCTP 669 79% . PCYOX1 1542 100% . PCYOX1L 1525 93% . PCYT1A 1232 100% . PCYT1B 1246 100% . PCYT2 1223 89% . PDAP1 570 97% . PDC 777 100% . PDCD1 887 99% . PDCD10 671 100% Familial Cerebral Cavernous Malformation PDCD10 671 100% Familial Cerebral Cavernous Malformation 3 PDCD11 5756 100% . PDCD1LG2 846 100% . PDCD2 1089 86% . PDCD2L 1105 92% . PDCD4 1468 100% . PDCD5 534 93% . PDCD6 749 98% . PDCD6IP 2694 96% . PDCD7 1533 71% . PDCL 918 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:412

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PDCL2 750 100% . PDCL3 776 100% . PDDC1 736 90% . PDE10A 2469 99% . PDE11A 3055 100% . PDE12 1874 100% . PDE1A 1837 100% . PDE1B 1724 97% . PDE1C 2540 100% . PDE2A 3279 92% . PDE3A 3491 93% . PDE3B 3457 100% . PDE4A 3577 93% . PDE4B 2633 100% . PDE4C 2349 88% . PDE4D 3305 85% . PDE4DIP 8995 99% . PDE5A 2754 100% . PDE6A 2671 100% PDE6A‐Related Retinitis Pigmentosa PDE6A 2671 100% Retinitis Pigmentosa, Autosomal Recessive PDE6B 2760 99% Congenital Stationary Night Blindness, Autosomal Dominant 2 PDE6B 2760 99% PDE6B‐Related Retinitis Pigmentosa PDE6B 2760 99% Retinitis Pigmentosa, Autosomal Recessive PDE6C 2665 100% Achromatopsia PDE6C 2665 100% Achromatopsia 5 PDE6C 2665 100% Cone‐Rod Dystrophy 4 PDE6D 473 100% . PDE6G 335 100% . PDE6H 264 100% . PDE7A 1597 100% . PDE7B 1613 99% . PDE8A 2578 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:413

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PDE8B 2760 99% . PDE9A 1942 98% . PDF 740 36% . PDGFA 1048 85% . PDGFB 772 100% . PDGFC 1062 100% . PDGFD 1141 100% . PDGFRA 3399 100% Gastrointestinal Stromal Tumor PDGFRB 3409 100% . PDGFRL 1152 100% . PDHA1 1389 100% Pyruvate Dehydrogenase E1‐Alpha Deficiency PDHA1 1389 100% X‐Linked Leigh Syndrome PDHA2 1171 100% . PDHB 1241 100% Pyruvate Dehydrogenase E1‐Beta Deficiency PDHX 1669 95% E3‐Binding Protein (Component X) Deficiency PDIA2 1711 100% . PDIA3 1570 100% . PDIA4 1978 95% . PDIA5 1629 97% . PDIA6 1375 99% . PDIK1L 1034 100% . PDILT 1799 100% . PDK1 1355 95% . PDK2 1271 99% . PDK3 1300 97% . PDK4 1280 100% . PDLIM1 1018 100% . PDLIM2 1536 80% . PDLIM3 1319 100% . PDLIM4 1021 91% . PDLIM5 2780 74% . PDLIM7 1881 75% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:414

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PDP1 1775 100% . PDP2 1594 100% . PDPK1 1992 46% . PDPN 745 100% . PDPR 2708 100% . PDRG1 422 97% . PDS5A 4183 98% . PDS5B 4487 100% . PDSS1 1300 87% Coenzyme Q10 Deficiency PDSS1 1300 87% PDSS1‐Related Coenzyme Q10 Deficiency PDSS2 1232 100% Coenzyme Q10 Deficiency PDSS2 1232 100% PDSS2‐Related Coenzyme Q10 Deficiency PDX1 860 73% Maturity‐Onset Diabetes of the Young Type 4 PDX1 860 73% PDX1‐Related Permanent Neonatal Diabetes Mellitus PDX1 860 73% Permanent Neonatal Diabetes Mellitus PDXDC1 2525 99% . PDXK 983 91% . PDXP 899 64% . PDYN 773 100% . PDZD11 447 100% . PDZD2 8625 100% . PDZD3 1972 95% . PDZD4 2360 94% . PDZD7 3191 76% . PDZD8 3485 99% . PDZD9 627 94% . PDZK1 1592 96% . PDZK1IP1 361 99% . PDZRN3 3241 84% . PDZRN4 3224 96% . PEA15 407 100% . PEAK1 5257 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:415

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PEAR1 3206 99% . PEBP1 580 76% . PEBP4 708 100% . PECAM1 2 0% . PECR 944 100% . PEF1 934 100% . PEG10 983 100% . PEG3 4801 100% . PELI1 1281 100% . PELI2 1287 98% . PELI3 1438 100% . PELO 1166 100% . PELP1 4041 99% . PEMT 739 96% . PENK 812 100% . PEPD 1542 85% PER1 4160 96% . PER2 3856 99% . PER3 3721 100% . PERP 594 100% . PES1 1843 100% . PET112 1793 100% . PET117 254 0% . PEX1 4002 99% Peroxisome Biogenesis Disorders (PBD) PEX1 4002 99% Spectrum PEX10 1065 88% Peroxisome Biogenesis Disorders (PBD) PEX10 1065 88% Zellweger Syndrome Spectrum PEX11A 756 92% . PEX11B 797 96% . PEX11G 746 68% . PEX12 1092 100% Peroxisome Biogenesis Disorders (PBD) PEX12 1092 100% Zellweger Syndrome Spectrum UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:416

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PEX13 1228 92% Peroxisome Biogenesis Disorders (PBD) PEX13 1228 92% Zellweger Syndrome Spectrum PEX14 1170 100% Peroxisome Biogenesis Disorders (PBD) PEX14 1170 100% Zellweger Syndrome Spectrum PEX16 1148 95% Peroxisome Biogenesis Disorders (PBD) PEX16 1148 95% Zellweger Syndrome Spectrum PEX19 932 100% Peroxisome Biogenesis Disorders (PBD) PEX19 932 100% Zellweger Syndrome Spectrum PEX2 922 100% Peroxisome Biogenesis Disorders (PBD) PEX2 922 100% Zellweger Syndrome Spectrum PEX26 1355 85% Peroxisome Biogenesis Disorders (PBD) PEX26 1355 85% Zellweger Syndrome Spectrum PEX3 1170 100% Peroxisome Biogenesis Disorders (PBD) PEX3 1170 100% Zellweger Syndrome Spectrum PEX5 2041 99% Peroxisome Biogenesis Disorders (PBD) PEX5 2041 99% Zellweger Syndrome Spectrum PEX5L 1941 100% . PEX6 3032 90% Peroxisome Biogenesis Disorders (PBD) PEX6 3032 90% Zellweger Syndrome Spectrum PEX7 1012 87% PEX7‐Related Refsum Disease PEX7 1012 87% Refsum Disease PEX7 1012 87% Rhizomelic Chondrodysplasia Punctata Type 1 PF4 318 71% . PF4V1 327 100% . PFAS 4125 100% . PFDN1 385 91% . PFDN2 481 100% . PFDN4 421 94% . PFDN5 489 100% . PFDN6 422 96% . PFKFB1 1472 99% . PFKFB2 1644 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:417

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PFKFB3 1643 99% . PFKFB4 1466 100% . PFKL 2431 96% . PFKM 2727 100% Glycogen Storage Disease Type VII PFKP 2539 95% . PFN1 435 100% . PFN2 545 75% . PFN3 418 95% . PFN4 406 100% . PGA3 1203 36% . PGA4 1203 2% . PGA5 1203 45% . PGAM1 781 100% . PGAM2 774 100% Glycogen Storage Disease Type X PGAM4 769 100% . PGAM5 947 63% . PGAP1 2877 100% . PGAP2 1240 96% . PGAP3 995 84% . PGBD1 2454 100% . PGBD2 1787 100% . PGBD3 1793 100% . PGBD4 1762 100% . PGBD5 1396 100% . PGC 1512 80% . PGCP 1678 100% . PGD 1504 100% . PGF 541 85% . PGGT1B 1170 100% . PGK1 1298 100% Deficiency PGK2 1258 100% . PGLS 797 57% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:418

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PGLYRP1 603 100% . PGLYRP2 2015 89% . PGLYRP3 1054 100% . PGLYRP4 1154 100% . PGM1 2037 100% . PGM2 1895 96% . PGM2L1 1925 100% . PGM3 1849 91% . PGM5 1748 94% . PGP 974 44% . PGPEP1 650 98% . PGPEP1L 607 96% . PGR 2834 96% . PGRMC1 600 99% . PGRMC2 688 81% . PGS1 1717 92% . PHACTR1 2321 99% . PHACTR2 2023 98% . PHACTR3 1845 87% . PHACTR4 2214 100% . PHAX 1205 100% . PHB 962 100% . PHB2 936 100% . PHC1 3121 93% . PHC2 2636 97% . PHC3 3219 100% . PHEX 2338 100% Hypophosphatemic Rickets, X‐Linked Dominant PHF1 1780 99% . PHF10 1566 94% . PHF11 1036 91% . PHF12 3372 100% . PHF13 919 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:419

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PHF14 2735 100% . PHF15 2416 100% . PHF16 2512 100% . PHF17 2597 100% . PHF19 1958 96% . PHF2 3382 95% . PHF20 3107 100% . PHF20L1 3324 100% . PHF21A 2137 100% . PHF21B 1670 90% . PHF23 1232 99% . PHF3 6202 100% . PHF5A 349 100% . PHF6 1243 100% Borjeson‐Forssman‐Lehmann Syndrome PHF7 1189 100% . PHF8 3441 99% . PHGDH 1686 100% Phosphoglycerate Dehydrogenase Deficiency PHGR1 249 0% . PHIP 5626 99% . PHKA1 3800 100% Glycogen Storage Disease TypeIX PHKA1 3800 100% Muscle Glycogenosis, X‐Linked PHKA1 3800 100% PHKA1‐Related Glycogen Storage Disease Type IX PHKA2 3840 99% Glycogen Storage Disease TypeIX PHKA2 3840 99% PHKA2‐Related Glycogen Storage Disease Type IX PHKB 3619 100% Glycogen Storage Disease TypeIX PHKB 3619 100% PHKB‐Related Glycogen Storage Disease Type IX PHKG1 1200 100% . PHKG2 1323 93% Glycogen Storage Disease TypeIX PHKG2 1323 93% PHKG2‐Related Glycogen Storage Disease Type IX PHLDA1 1210 90% . PHLDA2 463 98% . PHLDA3 388 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:420

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PHLDB1 4277 100% . PHLDB2 4215 100% . PHLDB3 1998 98% . PHLPP1 5251 83% . PHLPP2 4044 100% . PHOSPHO1 939 75% . PHOSPHO2 730 100% . PHOSPHO2‐KLHL23 1689 100% . PHOX2A 867 38% Congenital Fibrosis of the Extraocular Muscles PHOX2A 867 38% PHOX2A‐Related Congenital Fibrosis of the Extraocular Muscles PHOX2B 957 100% Congenital Central Hypoventilation Syndrome PHOX2B 957 100% Neuroblastoma, Susceptibility PHOX2B 957 100% PHOX2B‐Related Neuroblastoma, Susceptibility PHPT1 637 100% . PHRF1 5018 100% . PHTF1 2442 100% . PHTF2 2409 100% . PHYH 1059 93% PHYH‐Related Refsum Disease PHYH 1059 93% Refsum Disease PHYHD1 1002 95% . PHYHIP 1009 97% . PHYHIPL 1183 100% . PI15 797 100% . PI16 1416 97% . PI3 362 100% . PI4K2A 1476 95% . PI4K2B 1486 83% . PI4KA 6534 97% . PI4KB 2535 100% . PIAS1 2012 100% . PIAS2 1997 99% . PIAS3 2080 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:421

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PIAS4 1577 98% . PIBF1 2342 100% . PICALM 2067 100% . PICK1 1296 100% . PID1 793 80% . PIDD 2793 98% . PIEZO1 6444 79% . PIEZO2 4876 95% . PIF1 2056 85% . PIGA 1476 100% . PIGB 1716 100% . PIGC 898 100% . PIGF 759 100% . PIGG 3100 100% . PIGH 583 63% . PIGK 1245 100% . PIGL 795 100% . PIGM 1276 100% . PIGN 2908 100% . PIGO 3310 100% . PIGP 493 99% . PIGQ 2394 95% . PIGR 2335 98% . PIGS 1726 100% . PIGT 1846 97% . PIGU 1356 99% . PIGV 1494 100% . PIGW 1519 100% . PIGX 904 87% . PIGY 354 55% . PIGZ 1748 99% . PIH1D1 1172 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:422

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PIH1D2 1026 100% . PIK3AP1 2486 99% . PIK3C2A 5189 100% . PIK3C2B 5033 98% . PIK3C2G 4466 100% . PIK3C3 2768 100% . PIK3CA 3289 100% . PIK3CB 3302 100% . PIK3CD 3404 93% . PIK3CG 3349 100% . PIK3IP1 1002 84% . PIK3R1 2389 100% . PIK3R2 2247 88% . PIK3R3 1426 100% . PIK3R4 4153 100% . PIK3R5 2715 100% . PIK3R6 19 0% . PIKFYVE 6472 100% Corneal Fleck Dystrophy PILRA 967 100% . PILRB 783 100% . PIM1 1239 95% . PIM2 960 96% . PIM3 1005 82% . PIN1 564 86% . PIN4 702 84% . PINK1 1778 81% Parkinson Disease PINK1 1778 81% PINK1‐Related Parkinson Disease PINX1 1015 100% . PION 2743 96% . PIP 457 100% . PIP4K2A 1294 100% . PIP4K2B 1291 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:423

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PIP4K2C 1306 100% . PIP5K1A 1835 100% . PIP5K1B 1675 100% . PIP5K1C 2079 95% . PIP5KL1 1225 72% . PIPOX 1205 100% . PIR 909 100% . PIRT 418 100% . PISD 1156 98% . PITHD1 660 70% . PITPNA 846 99% . PITPNB 868 79% . PITPNC1 1160 100% . PITPNM1 3827 96% . PITPNM2 4146 93% . PITPNM3 3005 99% Cone‐Rod Dystrophy 5 PITRM1 3405 99% . PITX1 957 98% . PITX2 1179 91% Anophthalmia/Microphthalmia PITX2 1179 91% Anterior Segment Mesenchymal Dysgenesis PITX2 1179 91% Axenfeld‐Rieger Syndrome PITX2 1179 91% Cataracts, Autosomal Dominant PITX2 1179 91% Iris Hypoplasia PITX2 1179 91% Peters Anomaly PITX2 1179 91% Peters Anomaly with Cataract PITX2 1179 91% Ring Dermoid of PITX3 921 92% Anophthalmia/Microphthalmia PITX3 921 92% Anterior Segment Mesenchymal Dysgenesis PITX3 921 92% Cataracts, Autosomal Dominant PITX3 921 92% Peters Anomaly with Cataract PIWIL1 2666 100% . PIWIL2 3010 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:424

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PIWIL3 2729 100% . PIWIL4 2639 100% . PJA1 1936 100% . PJA2 2163 100% . PKD1 13178 86% Polycystic Disease 1, Autosomal Dominant PKD1 13178 86% Polycystic Kidney Disease, Autosomal Dominant PKD1L1 8814 100% . PKD1L2 5316 100% . PKD1L3 5315 100% . PKD2 2967 80% Polycystic Kidney Disease 2, Autosomal Dominant PKD2 2967 80% Polycystic Kidney Disease, Autosomal Dominant PKD2L1 2482 100% . PKD2L2 1898 100% . PKDCC 1510 71% . PKDREJ 6766 93% . PKHD1 12528 100% Polycystic Kidney Disease, Autosomal Recessive PKHD1L1 13047 100% . PKIA 239 100% . PKIB 272 100% . PKIG 239 100% . PKLR 1881 100% Deficiency PKM2 2038 89% . PKMYT1 1570 97% . PKN1 2960 93% . PKN2 3182 99% . PKN3 2758 95% . PKNOX1 1432 100% . PKNOX2 1459 100% . PKP1 2300 100% Ectodermal Dysplasia/Skin Fragility Syndrome PKP1 2300 100% PKP1‐Related Ectodermal Dysplasia/Skin Fragility Syndrome PKP2 2702 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9 PKP2 2702 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:425

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PKP3 2446 77% . PKP4 3671 100% . PLA1A 1415 100% . PLA2G10 514 29% . PLA2G12A 586 98% . PLA2G12B 604 100% . PLA2G15 1263 100% . PLA2G16 505 100% . PLA2G1B 463 100% . PLA2G2A 451 100% . PLA2G2C 465 100% . PLA2G2D 502 100% . PLA2G2E 445 92% . PLA2G2F 656 100% . PLA2G3 1558 99% . PLA2G4A 2318 100% . PLA2G4B 2426 100% . PLA2G4C 1723 100% . PLA2G4D 2666 90% . PLA2G4E 2687 100% . PLA2G4F 2636 99% . PLA2G5 433 100% . PLA2G6 2485 89% Infantile Neuroaxonal Dystrophy PLA2G7 1370 100% . PLA2R1 4520 99% . PLAA 2444 98% . PLAC1 643 100% . PLAC1L 493 100% . PLAC4 1 0% . PLAC8 360 100% . PLAC8L1 550 100% . PLAC9 401 83% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:426

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PLAG1 1511 100% . PLAGL1 1400 100% Diabetes Mellitus, 6q24‐Related Transient Neonatal PLAGL2 1499 100% . PLAT 1745 100% . PLAU 1734 100% . PLAUR 1132 92% . PLB1 4682 100% . PLBD1 1706 94% . PLBD2 1818 82% . PLCB1 3885 100% . PLCB2 3686 98% . PLCB3 3898 90% . PLCB4 3769 100% . PLCD1 2432 98% . PLCD3 2429 89% . PLCD4 2617 100% . PLCE1 7319 100% Nephrotic Syndrome Type 3 PLCG1 4004 97% . PLCG2 3926 100% . PLCH1 5196 100% . PLCH2 5018 91% . PLCL1 3312 93% . PLCL2 3079 100% . PLCXD1 1002 99% . PLCXD2 1053 100% . PLCXD3 978 100% . PLCZ1 2002 100% . PLD1 3329 100% . PLD2 2898 100% . PLD3 1517 97% . PLD4 1561 90% . PLD5 1373 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:427

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PLD6 767 63% . PLDN 539 87% . PLEC 14884 95% Epidermolysis Bullosa Simplex with Muscular Dystrophy PLEC 14884 95% Epidermolysis Bullosa Simplex, Ogna Type PLEC 14884 95% Epidermolysis Bullosa with Pyloric Atresia PLEC 14884 95% PLEC‐Related Epidermolysis Bullosa with Pyloric Atresia PLEK 1143 100% . PLEK2 1098 99% . PLEKHA1 1304 100% . PLEKHA2 1323 100% . PLEKHA3 935 100% . PLEKHA4 2416 99% . PLEKHA5 3634 99% . PLEKHA6 3287 98% . PLEKHA7 3461 97% . PLEKHA8 1726 96% . PLEKHB1 790 97% . PLEKHB2 721 100% . PLEKHD1 1573 57% . PLEKHF1 860 94% . PLEKHF2 754 100% . PLEKHG1 4218 100% . PLEKHG2 4236 99% . PLEKHG3 3548 100% . PLEKHG4 3743 100% . PLEKHG4B 3993 98% . PLEKHG5 3348 96% Distal Spinal Muscular Atrophy 4 PLEKHG6 2479 95% . PLEKHG7 1184 100% . PLEKHH1 4278 100% . PLEKHH2 4704 100% . PLEKHH3 2657 81% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:428

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PLEKHJ1 474 74% . PLEKHM1 3267 100% PLEKHM1‐Related Autosomal Recessive Osteopetrosis PLEKHM2 3404 92% . PLEKHM3 2340 100% . PLEKHN1 2052 92% . PLEKHO1 1360 96% . PLEKHO2 1497 98% . PLG 2564 100% . PLGLB1 653 42% . PLGLB2 653 42% . PLIN1 1601 75% . PLIN2 1366 100% . PLIN3 1333 100% . PLIN4 4098 100% . PLIN5 1498 82% . PLK1 2089 96% . PLK1S1 14 0% . PLK2 2117 100% . PLK3 2001 88% . PLK4 2977 100% . PLK5 9 0% . PLLP 565 94% . PLN 163 100% Dilated Cardiomyopathy PLN 163 100% PLN‐Related Dilated Cardiomyopathy PLOD1 2261 97% Ehlers‐Danlos Syndrome, Kyphoscoliotic Form PLOD2 2464 98% Bruck Syndrome 2 PLOD3 2297 92% . PLP1 862 100% PLP1‐Related Disorders PLP2 572 99% . PLRG1 1648 100% . PLS1 1950 100% . PLS3 1953 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:429

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PLSCR1 989 100% . PLSCR2 923 95% . PLSCR3 916 93% . PLSCR4 1022 100% . PLSCR5 844 91% . PLTP 1542 97% . PLVAP 1353 100% . PLXDC1 1559 94% . PLXDC2 1646 98% . PLXNA1 5815 100% . PLXNA2 5809 100% . PLXNA3 5744 99% . PLXNA4 6375 99% . PLXNB1 6588 98% . PLXNB2 5657 96% . PLXNB3 6095 96% . PLXNC1 4831 94% . PLXND1 5932 86% . PM20D1 1561 96% . PM20D2 1339 79% . PMAIP1 268 81% . PMCH 510 100% . PMEL 2030 100% . PMEPA1 917 85% . PMF1 754 100% . PMF1‐BGLAP 831 99% . PMFBP1 3104 100% . PML 3702 99% . PMM1 906 99% . PMM2 773 97% Congenital Disorders of Glycosylation PMM2 773 97% PMM2‐CDG (CDG‐Ia) PMP2 415 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:430

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1 PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1A PMP22 499 87% Charcot‐Marie‐Tooth Neuropathy Type 1E PMP22 499 87% Hereditary Neuropathy with Liability to Pressure Palsies PMPCA 2055 99% . PMPCB 1864 93% . PMS1 2976 100% Hereditary Non‐Polyposis Colon Cancer PMS1 2976 100% PMS1‐Related Hereditary Non‐polyposis Colon Cancer PMS2 2649 99% Hereditary Non‐Polyposis Colon Cancer PMS2 2649 99% PMS2‐Related Hereditary Non‐Polyposis Colon Cancer PMS2 2649 99% PMS2‐Related Turcot Syndrome PMS2 2649 99% Turcot Syndrome PMVK 599 100% . PNCK 1582 98% . PNISR 2458 100% . PNKD 1563 88% Familial Paroxysmal Nonkinesigenic Dyskinesia PNKP 1630 95% Microcephaly, Seizures, and Developmental Delay PNLDC1 1635 100% . PNLIP 1446 100% . PNLIPRP1 1452 100% . PNLIPRP2 1114 97% . PNLIPRP3 1452 100% . PNMA1 1066 100% . PNMA2 1099 100% . PNMA3 1396 100% . PNMA5 1351 100% . PNMA6A 1205 0% . PNMA6C 1204 0% . PNMA6D 1205 0% . PNMAL1 1350 100% . PNMAL2 1446 100% . PNMT 861 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:431

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PNN 2190 100% . PNO1 926 100% . PNOC 539 100% . PNP 894 99% Purine Nucleoside Phosphorylase Deficiency PNPLA1 1661 99% . PNPLA2 1551 76% Neutral Lipid Storage Disease with Myopathy PNPLA3 1482 100% . PNPLA4 786 100% . PNPLA5 1326 85% . PNPLA6 4260 94% Spastic Paraplegia 39 PNPLA7 4179 96% . PNPLA8 2386 100% . PNPO 814 88% Pyridoxamine 5‐Prime‐Phosphate Oxidase Deficiency PNPT1 2495 100% . PNRC1 992 85% . PNRC2 424 40% . POC1A 1268 98% . POC1B 1745 86% . POC1B‐GALNT4 1233 80% . POC5 1785 100% . PODN 2062 95% . PODNL1 1572 83% . PODXL 1761 92% . PODXL2 1850 84% . POF1B 1858 100% . POFUT1 1242 95% . POFUT2 1465 99% . POGK 1846 100% . POGLUT1 1375 91% . POGZ 4346 100% . POLA1 4555 100% . POLA2 1869 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:432

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

POLB 1064 100% . POLD1 3509 90% . POLD2 1450 100% . POLD3 1449 100% . POLD4 340 92% . POLDIP2 11 0% . POLDIP3 1365 100% . POLE 7061 99% . POLE2 1660 97% . POLE3 460 99% . POLE4 370 57% . POLG 3808 99% Alpers‐Huttenlocher Syndrome POLG 3808 99% Autosomal Dominant Progressive External Ophthalmoplegia POLG 3808 99% Autosomal Recessive Progressive External Ophthalmoplegia POLG 3808 99% Childhood Myocerebrohepatopathy Spectrum Disorders POLG 3808 99% Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG‐Related POLG 3808 99% Myoclonic Epilepsy Myopathy Sensory Ataxia POLG 3808 99% POLG‐Related Ataxia Neuropathy Spectrum Disorders POLG 3808 99% POLG‐Related Disorders POLG2 1490 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4 POLH 2182 100% POLH‐Related Xeroderma Pigmentosum POLH 2182 100% Xeroderma Pigmentosum POLI 2263 95% . POLK 2732 100% . POLL 2008 100% . POLM 1929 92% . POLN 2962 100% . POLQ 8013 100% . POLR1A 5299 100% . POLR1B 3473 100% . POLR1C 1133 100% . POLR1D 761 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:433

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

POLR1E 1570 99% . POLR2A 6029 100% . POLR2B 3635 100% . POLR2C 864 100% . POLR2D 445 99% . POLR2E 661 100% . POLR2F 404 100% . POLR2G 551 100% . POLR2H 548 100% . POLR2I 402 100% . POLR2J 400 100% . POLR2J2 584 21% . POLR2J3 584 25% . POLR2K 189 100% . POLR2L 212 100% . POLR2M 1123 99% . POLR3A 4297 100% . POLR3B 3514 100% . POLR3C 1661 100% . POLR3D 1229 99% . POLR3E 2306 99% . POLR3F 987 100% . POLR3G 728 100% . POLR3GL 685 100% . POLR3H 933 90% . POLR3K 339 100% . POLRMT 3798 91% . POM121 3154 95% . POM121C 3163 83% . POM121L12 895 100% . POM121L2 3112 100% . POMC 812 96% Monogenic Non‐Syndromic Obesity, Autosomal Recessive UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:434

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

POMC 812 96% Proopiomelanocortin Deficiency POMGNT1 2361 100% Limb‐Girdle Muscular Dystrophy Type 3C POMGNT1 2361 100% Limb‐Girdle Muscular Dystrophy, Type 3C POMGNT1 2361 100% Muscle‐Eye‐Brain Disease POMGNT1 2361 100% POMGNT1‐Related Muscle Diseases POMP 450 99% . POMT1 2555 96% Limb‐Girdle Muscular Dystrophy Type 2K POMT1 2555 96% POMT1‐Related Muscle Diseases POMT1 2555 96% Walker‐Warburg Syndrome POMT2 2501 95% Limb‐Girdle Muscular Dystrophy Type 2N POMT2 2501 95% POMT2‐Related Muscle Diseases POMT2 2501 95% Walker‐Warburg Syndrome POMZP3 942 85% . PON1 1104 100% . PON2 1105 93% . PON3 1123 100% . POP1 3135 100% . POP4 691 100% . POP5 512 100% . POP7 427 100% . POPDC2 1209 100% . POPDC3 911 100% . POR 2430 100% Cytochrome P450 Deficiency PORCN 1455 95% POSTN 2603 100% . POT1 1965 100% . POTEA 1545 100% . POTEB 3358 19% . POTEC 1807 100% . POTED 1799 37% . POTEE 3288 85% . POTEF 3318 86% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:435

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

POTEG 1567 89% . POTEH 1678 77% . POTEM 1567 64% . POU1F1 978 100% POU1F1‐Related Combined Pituitary Hormone Deficiency POU2AF1 791 100% . POU2F1 2397 97% . POU2F2 1791 87% . POU2F3 1364 99% . POU3F1 1360 53% . POU3F2 1336 83% . POU3F3 1507 61% . POU3F4 1090 100% DFNX2 Nonsyndromic Hearing Loss and Deafness POU4F1 1268 72% . POU4F2 1238 100% . POU4F3 1025 100% DFNA15 Nonsyndromic Hearing Loss and Deafness POU4F3 1025 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant POU5F1 1259 97% . POU5F1B 1084 100% . POU5F2 1 0% . POU6F1 926 100% . POU6F2 2116 100% . PP2D1 1905 100% . PPA1 914 93% . PPA2 1053 100% . PPAN 1470 89% . PPAN‐P2RY11 2580 94% . PPAP2A 1039 96% . PPAP2B 960 100% . PPAP2C 1010 89% . PPAPDC1A 844 93% . PPAPDC1B 912 93% . PPAPDC2 892 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:436

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PPAPDC3 824 100% . PPARA 1462 100% . PPARD 1359 100% . PPARG 1547 100% Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1) PPARG 1547 100% Diabetes Mellitus, Noninsulin‐Dependent, with Acanthosis Nigricans and Hypertension PPARG 1547 100% Familial Partial Lipodystrophy Type 3 PPARGC1A 2515 100% . PPARGC1B 3376 99% . PPAT 1598 100% . PPBP 399 100% . PPCDC 635 100% . PPCS 978 100% . PPDPF 431 100% . PPEF1 2026 100% . PPEF2 2329 100% . PPFIA1 3721 100% . PPFIA2 3664 98% . PPFIA3 3697 97% . PPFIA4 2181 100% . PPFIBP1 3227 100% . PPFIBP2 2723 99% . PPHLN1 1628 100% . PPIA 522 100% . PPIAL4A 1497 18% . PPIAL4B 1497 18% . PPIAL4C 998 0% . PPIAL4D 2 0% . PPIAL4E 1 0% . PPIAL4F 2 0% . PPIAL4G 499 100% . PPIB 671 100% PPIB‐Related Osteogenesis Imperfecta PPIC 659 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:437

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PPID 1197 100% . PPIE 1169 100% . PPIF 710 74% . PPIG 2313 100% . PPIH 805 100% . PPIL1 517 100% . PPIL2 1672 100% . PPIL3 620 82% . PPIL4 1538 98% . PPIL6 1050 79% . PPIP5K1 4583 38% . PPIP5K2 3785 100% . PPL 5359 100% . PPM1A 1415 100% . PPM1B 1563 100% . PPM1D 1842 95% . PPM1E 2296 92% . PPM1F 1494 97% . PPM1G 1700 95% . PPM1H 1585 100% . PPM1J 1558 96% . PPM1K 1143 100% . PPM1L 1099 100% . PPM1M 1364 87% . PPM1N 1746 88% . PPME1 1217 100% . PPOX 1482 100% Variegate Porphyria PPP1CA 1054 100% . PPP1CB 1120 96% . PPP1CC 1075 100% . PPP1R10 3003 94% . PPP1R11 414 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:438

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PPP1R12A 3193 99% . PPP1R12B 3277 100% . PPP1R12C 2437 83% . PPP1R13B 3341 100% . PPP1R13L 2786 89% . PPP1R14A 460 66% . PPP1R14B 460 98% . PPP1R14C 514 91% . PPP1R14D 623 81% . PPP1R15A 2033 100% . PPP1R15B 2150 100% . PPP1R16A 1627 85% . PPP1R16B 1744 98% . PPP1R17 484 100% . PPP1R18 1874 99% . PPP1R1A 555 87% . PPP1R1B 676 100% . PPP1R1C 371 100% . PPP1R2 642 100% . PPP1R21 2541 100% . PPP1R26 3634 97% . PPP1R27 477 86% . PPP1R32 1326 100% . PPP1R35 778 92% . PPP1R36 1317 97% . PPP1R37 2312 51% . PPP1R3A 3385 100% . PPP1R3B 862 100% . PPP1R3C 962 100% . PPP1R3D 904 74% . PPP1R3F 2416 77% . PPP1R3G 1081 36% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:439

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PPP1R42 707 100% . PPP1R7 1141 100% . PPP1R8 1084 95% . PPP1R9A 4229 100% . PPP1R9B 10 0% . PPP2CA 958 100% . PPP2CB 958 99% . PPP2R1A 1950 90% . PPP2R1B 2089 100% . PPP2R2A 1425 97% . PPP2R2B 1630 99% Spinocerebellar Ataxia Type12 PPP2R2C 1456 95% . PPP2R2D 1297 100% . PPP2R3A 3641 100% . PPP2R3B 1793 93% . PPP2R3C 1414 100% . PPP2R4 1622 99% . PPP2R5A 1514 93% . PPP2R5B 1627 92% . PPP2R5C 1931 98% . PPP2R5D 1920 100% . PPP2R5E 1460 100% . PPP3CA 1622 100% . PPP3CB 1759 97% . PPP3CC 1626 96% . PPP3R1 537 99% . PPP3R2 526 100% . PPP4C 956 100% . PPP4R1 2933 98% . PPP4R2 1298 97% . PPP4R4 2795 100% . PPP5C 1552 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:440

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PPP6C 1061 97% . PPP6R1 2924 100% . PPP6R2 2995 97% . PPP6R3 2733 99% . PPPDE1 605 100% . PPPDE2 531 100% . PPRC1 5051 97% . PPT1 957 100% Neuronal Ceroid‐Lipofuscinoses PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Classic Late Infantile PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Infantile PPT1 957 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile PPT1 957 100% PPT1‐Related Neuronal Ceroid‐Lipofuscinosis PPT2 1031 93% . PPTC7 939 80% . PPWD1 1989 100% . PPY 300 76% . PPYR1 1132 100% . PQBP1 920 99% Renpenning Syndrome 1 PQLC1 836 100% . PQLC2 904 100% . PQLC3 671 84% . PRAC 182 43% . PRADC1 587 89% . PRAF2 635 89% . PRAM1 2053 100% . PRAME 1550 100% . PRAMEF1 1437 100% . PRAMEF10 1437 77% . PRAMEF11 1323 100% . PRAMEF12 1464 100% . PRAMEF13 1437 32% . PRAMEF14 2874 34% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:441

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRAMEF15 2898 5% . PRAMEF16 1437 32% . PRAMEF17 1437 65% . PRAMEF18 2697 37% . PRAMEF19 2697 37% . PRAMEF2 1437 100% . PRAMEF20 2880 12% . PRAMEF21 2880 12% . PRAMEF22 2916 22% . PRAMEF3 1458 5% . PRAMEF4 1449 98% . PRAMEF5 2892 24% . PRAMEF6 2886 40% . PRAMEF7 1440 36% . PRAMEF8 2877 18% . PRAMEF9 2898 5% . PRAP1 481 100% . PRB1 613 84% . PRB2 1263 100% . PRB3 1069 100% . PRB4 756 100% . PRC1 1923 100% . PRCC 1504 91% . PRCD 177 98% . PRCP 1594 100% . PRDM1 2519 100% . PRDM10 3603 100% . PRDM11 1567 100% . PRDM12 1124 85% . PRDM13 2173 82% . PRDM14 1744 99% . PRDM15 4648 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:442

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRDM16 3902 98% . PRDM2 5259 100% . PRDM4 2450 100% . PRDM5 1957 100% . PRDM6 1820 79% . PRDM7 1519 100% . PRDM8 2082 71% . PRDM9 2725 100% . PRDX1 620 100% . PRDX2 805 94% . PRDX3 799 95% . PRDX4 929 99% . PRDX5 669 99% . PRDX6 695 100% . PREB 1363 100% . PRELID1 783 100% . PRELID2 619 87% . PRELP 1157 100% . PREP 2193 99% . PREPL 2363 100% . PREX1 5240 97% . PREX2 5252 100% . PRF1 1676 100% Familial Hemophagocytic Lymphohistiocytosis PRF1 1676 100% Familial Hemophagocytic Lymphohistiocytosis 2 PRG2 689 100% . PRG3 698 100% . PRG4 4263 100% . PRH1 517 100% . PRH2 535 100% . PRHOXNB 530 50% . PRIC285 8151 90% . PRICKLE1 2524 100% Progressive Myoclonus Epilepsy with Ataxia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:443

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRICKLE2 2563 100% . PRICKLE3 2201 87% . PRICKLE4 1191 100% . PRIM1 1315 99% . PRIM2 1579 100% . PRIMA1 478 79% . PRKAA1 1765 100% . PRKAA2 1695 98% . PRKAB1 841 100% . PRKAB2 847 95% . PRKACA 1122 96% . PRKACB 1398 100% . PRKACG 1060 100% . PRKAG1 1044 100% . PRKAG2 1774 100% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, PRKAG2‐Related PRKAG2 1774 100% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, PRKAG2‐Related (268573) PRKAG2 1774 100% Glycogen Storage Disease of Heart, Lethal Congenital PRKAG2 1774 100% Wolff‐Parkinson‐White Syndrome PRKAG3 1522 100% . PRKAR1A 1186 100% PRKAR1B 1186 97% . PRKAR2A 1262 98% . PRKAR2B 1301 83% . PRKCA 2087 100% . PRKCB 2247 100% . PRKCD 2353 100% . PRKCDBP 794 94% . PRKCE 2274 100% . PRKCG 2166 97% Spinocerebellar Ataxia Type14 PRKCH 2108 100% . PRKCI 1863 99% . PRKCQ 2189 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:444

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRKCSH 1672 98% PRKCZ 1878 87% . PRKD1 2826 99% . PRKD2 2739 98% . PRKD3 2745 100% . PRKDC 12730 99% . PRKG1 2403 100% . PRKG2 2361 100% . PRKRA 1010 97% Dystonia 16 PRKRIP1 677 99% . PRKRIR 2306 96% . PRKX 1109 88% . PRL 707 100% . PRLH 272 86% . PRLHR 1117 99% . PRLR 2027 100% . PRM1 164 100% . PRM2 431 100% . PRM3 313 83% . PRMT1 1355 99% . PRMT10 2586 100% . PRMT2 1702 97% . PRMT3 1847 90% . PRMT5 2045 100% . PRMT6 1132 99% . PRMT7 2147 97% . PRMT8 1267 100% . PRND 535 100% . PRNP 766 100% Familial Creutzfeldt‐Jakob Disease PRNP 766 100% Fatal Familial Insomnia PRNP 766 100% Genetic Prion Diseases PRNP 766 100% Gerstmann‐Straussler‐Scheinker Disease UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:445

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRNP 766 100% Huntington Disease‐Like 1 PROC 1621 90% Protein C Deficiency PROCA1 1030 100% . PROCR 733 100% . PRODH 2013 77% Hyperprolinemia, Type I PRODH2 1655 94% . PROK1 330 100% . PROK2 406 76% Kallmann Syndrome PROK2 406 76% Kallmann Syndrome 4 PROKR1 1190 100% . PROKR2 1163 100% Kallmann Syndrome PROKR2 1163 100% Kallmann Syndrome 3 PROL1 755 100% . PROM1 2702 100% Cone‐Rod Dystrophy 12 PROM1 2702 100% PROM1‐Related Retinitis Pigmentosa PROM1 2702 100% Retinitis Pigmentosa, Autosomal Recessive PROM2 2658 97% . PROP1 693 100% PROP1‐Related Combined Pituitary Hormone Deficiency PROS1 2091 100% Protein S Deficiency ProSAPiP1 2034 96% . PROSC 860 91% . PROSER1 2935 100% . PROX1 2232 100% . PROX2 1795 100% . PROZ 1305 96% . PRPF18 1069 100% . PRPF19 1579 97% . PRPF3 2112 100% PRPF 3‐Related Retinitis Pigmentosa PRPF3 2112 100% Retinitis Pigmentosa, Autosomal Dominant PRPF31 1556 89% PRPF31‐Related Retinitis Pigmentosa PRPF31 1556 89% Retinitis Pigmentosa, Autosomal Dominant PRPF38A 979 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:446

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRPF38B 1665 100% . PRPF39 2116 100% . PRPF4 1625 100% . PRPF40A 3227 100% . PRPF40B 3092 95% . PRPF4B 3084 99% . PRPF6 2910 100% . PRPF8 7176 100% PRPF 8‐Related Retinitis Pigmentosa PRPF8 7176 100% Retinitis Pigmentosa, Autosomal Dominant PRPH 1452 90% . PRPH2 1053 100% Patterned Dystrophy of Retinal Pigment PRPH2 1053 100% PRPH2‐Related Adult‐Onset Vitelliform Macular Dystrophy PRPH2 1053 100% PRPH2‐Related Cone‐Rod Dystrophy PRPH2 1053 100% PRPH2‐Related Retinitis Pigmentosa PRPH2 1053 100% Retinitis Pigmentosa, Autosomal Dominant PRPS1 1087 100% Arts Syndrome PRPS1 1087 100% Charcot‐Marie‐Tooth Neuropathy X PRPS1 1087 100% Charcot‐Marie‐Tooth Neuropathy X Type 5 PRPS1 1087 100% DFNX1 Nonsyndromic Hearing Loss and Deafness PRPS1 1087 100% DFNX1(DFN2) Nonsyndromic Hearing Loss and Deafness PRPS1 1087 100% Phosphoribosylpyrophosphate Synthetase Superactivity PRPS1 1087 100% PRPS1‐Related Charcot‐Marie‐Tooth Neuropathy X Type 5 PRPS1 1087 100% PRPS1‐Related Disorders PRPS1L1 961 100% . PRPS2 1067 100% . PRPSAP1 1202 87% . PRPSAP2 1150 100% . PRR11 1119 100% . PRR12 6167 92% . PRR13 459 87% . PRR14 1802 100% . PRR14L 6488 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:447

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRR15 394 95% . PRR15L 316 100% . PRR16 854 89% . PRR18 892 64% . PRR19 1079 100% . PRR20A 3370 0% . PRR20B 3370 0% . PRR20C 3370 0% . PRR20D 3370 0% . PRR20E 3370 0% . PRR21 1174 58% . PRR22 1281 83% . PRR23A 805 88% . PRR23B 802 92% . PRR23C 793 90% . PRR24 433 1% . PRR25 1221 85% . PRR3 607 96% . PRR4 440 100% . PRR5 1340 93% . PRR5‐ARHGAP8 1806 95% . PRR5L 1140 100% . PRR7 833 75% . PRR9 355 100% . PRRC1 1499 100% . PRRC2A 6775 97% . PRRC2B 6817 100% . PRRC2C 8595 98% . PRRG1 751 89% . PRRG2 633 85% . PRRG3 849 100% . PRRG4 701 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:448

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRRT1 1595 87% . PRRT2 1056 100% . PRRT3 3053 82% . PRRT4 2716 54% . PRRX1 813 100% . PRRX2 778 64% . PRSS1 764 100% Hereditary Pancreatitis PRSS1 764 100% PRSS1‐Related Hereditary Pancreatitis PRSS12 2680 98% . PRSS16 1593 98% . PRSS2 422 94% . PRSS21 969 76% . PRSS22 978 90% . PRSS23 1156 100% . PRSS27 897 98% . PRSS3 1113 87% . PRSS33 868 67% . PRSS35 1246 100% . PRSS36 2628 89% . PRSS37 728 100% . PRSS38 1001 100% . PRSS41 5 0% . PRSS42 905 89% . PRSS45 808 100% . PRSS46 4 0% . PRSS48 1007 100% . PRSS50 1182 97% . PRSS53 1706 97% . PRSS54 1208 100% . PRSS55 1174 100% . PRSS56 13 0% . PRSS57 872 77% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:449

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PRSS58 746 100% . PRSS8 1066 100% . PRTFDC1 732 99% . PRTG 3533 97% . PRTN3 791 85% . PRUNE 1394 100% . PRUNE2 9355 100% . PRX 4465 98% Charcot‐Marie‐Tooth Neuropathy Type 4 PRX 4465 98% Charcot‐Marie‐Tooth Neuropathy Type 4F PRY 912 0% . PRY2 912 0% . PSAP 1647 97% Combined Saposin Deficiency PSAP 1647 97% Saposin A Deficiency PSAP 1647 97% Saposin B Deficiency PSAP 1647 97% Saposin C Deficiency PSAPL1 1570 100% . PSAT1 1284 96% . PSCA 416 94% . PSD 3139 100% . PSD2 2372 100% . PSD3 3250 100% . PSD4 3415 96% . PSEN1 1519 100% Alzheimer Disease Type 3 PSEN1 1519 100% Dilated Cardiomyopathy PSEN1 1519 100% Early‐Onset Familial Alzheimer Disease PSEN1 1519 100% PSEN1‐Related Dilated Cardiomyopathy PSEN2 1407 100% Alzheimer Disease Type 4 PSEN2 1407 100% Dilated Cardiomyopathy PSEN2 1407 100% Early‐Onset Familial Alzheimer Disease PSEN2 1407 100% PSEN2‐Related Dilated Cardiomyopathy PSENEN 318 100% . PSG1 1337 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:450

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PSG11 1046 100% . PSG2 1028 100% . PSG3 1311 100% . PSG4 1284 100% . PSG5 1066 100% . PSG6 1550 95% . PSG7 1284 100% . PSG8 1322 100% . PSG9 1550 100% . PSIP1 1682 100% . PSKH1 1283 100% . PSKH2 1170 100% . PSMA1 907 100% . PSMA2 742 100% . PSMA3 812 100% . PSMA4 818 100% . PSMA5 762 100% . PSMA6 769 100% . PSMA7 916 91% . PSMA8 799 100% . PSMB1 765 100% . PSMB10 1046 96% . PSMB11 907 100% . PSMB2 726 100% . PSMB3 642 100% . PSMB4 823 100% . PSMB5 893 100% . PSMB6 744 94% . PSMB7 866 100% . PSMB8 1044 95% . PSMB9 726 86% . PSMC1 1367 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:451

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PSMC2 1350 100% . PSMC3 1368 93% . PSMC3IP 686 100% . PSMC4 1301 100% . PSMC5 1269 96% . PSMC6 1298 100% . PSMD1 3083 99% . PSMD10 728 100% . PSMD11 1321 100% . PSMD12 1415 100% . PSMD13 1264 100% . PSMD14 973 100% . PSMD2 2921 94% . PSMD3 1654 88% . PSMD4 1218 99% . PSMD5 1710 100% . PSMD6 1202 98% . PSMD7 1003 100% . PSMD8 1081 91% . PSMD9 696 96% . PSME1 878 98% . PSME2 810 100% . PSME3 848 100% . PSME4 5785 98% . PSMF1 844 100% . PSMG1 901 100% . PSMG2 823 100% . PSMG3 377 100% . PSMG4 605 45% . PSORS1C1 510 96% . PSORS1C2 429 98% . PSPC1 1608 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:452

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PSPH 773 100% . PSPN 479 57% . PSRC1 1148 100% . PSTK 1160 99% . PSTPIP1 1397 99% Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PSTPIP2 1069 97% . PTAFR 1033 100% . PTAR1 1318 98% . PTBP1 1734 100% . PTBP2 1670 100% . PTBP3 2005 100% . PTCD1 2157 100% . PTCD2 1305 100% . PTCD3 2171 100% . PTCH1 4645 100% Holoprosencephaly PTCH1 4645 100% Nevoid Basal Cell Carcinoma Syndrome PTCH1 4645 100% PTCH1‐Related Holoprosencephaly PTCH2 3720 97% . PTCHD1 2679 100% . PTCHD2 4259 100% . PTCHD3 2320 100% . PTCRA 909 86% . PTDSS1 1474 100% . PTDSS2 1512 88% . PTEN 1248 100% Bannayan‐Riley‐Ruvalcaba Syndrome PTEN 1248 100% PTEN 1248 100% /Autism Syndrome PTEN 1248 100% PTEN Hamartoma Tumor Syndrome (PHTS) PTEN 1248 100% VACTERL Association with Hydrocephalus PTER 1066 100% . PTF1A 995 54% Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis PTGDR 1088 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:453

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PTGDR2 1192 58% . PTGDS 1083 92% . PTGER1 1217 36% . PTGER2 1085 100% . PTGER3 1544 98% . PTGER4 1475 100% . PTGES 471 72% . PTGES2 1166 81% . PTGES3 515 100% . PTGFR 1163 100% . PTGFRN 2676 98% . PTGIR 1169 72% . PTGIS 1543 95% . PTGR1 1031 100% . PTGR2 1092 100% . PTGS1 1934 100% . PTGS2 1855 97% . PTH 356 100% Familial Isolated Hypoparathyroidism PTH 356 100% PTH‐Related Familial Isolated Hypoparathyroidism PTH1R 2457 96% Chondrodysplasia, Blomstrand Type PTH1R 2457 96% Chondrodysplasia, Blomstrand Type (3590) PTH1R 2457 96% Metaphyseal Chondrodysplasia, Jansen Type PTH2 311 100% . PTH2R 1705 100% . PTHLH 550 100% . PTK2 3329 100% . PTK2B 3329 100% . PTK6 1388 91% . PTK7 3910 95% . PTMA 356 100% . PTMS 330 85% . PTN 523 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:454

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PTOV1 1339 87% . PTP4A1 542 100% . PTP4A2 524 100% . PTP4A3 542 89% . PTPDC1 2549 100% . PTPLA 895 71% . PTPLAD1 1133 100% . PTPLAD2 727 94% . PTPLB 793 82% . PTPMT1 727 92% . PTPN1 1348 95% . PTPN11 1846 99% LEOPARD Syndrome PTPN11 1846 99% Noonan Syndrome PTPN11 1846 99% PTPN11‐Related LEOPARD Syndrome PTPN11 1846 99% PTPN11‐Related Noonan Syndrome PTPN12 2417 100% . PTPN13 7662 100% . PTPN14 3636 100% . PTPN18 1446 84% . PTPN2 1311 98% . PTPN20A 2650 17% . PTPN20B 2650 17% . PTPN21 3597 100% . PTPN22 2531 100% . PTPN23 5011 100% . PTPN3 2958 100% . PTPN4 3017 100% . PTPN5 1901 96% . PTPN6 2009 100% . PTPN7 1725 88% . PTPN9 1834 96% . PTPRA 2493 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:455

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PTPRB 6846 100% . PTPRC 4060 100% . PTPRCAP 629 92% . PTPRD 5949 99% . PTPRE 2262 100% . PTPRF 6217 98% . PTPRG 4462 99% . PTPRH 3428 99% . PTPRJ 4123 98% . PTPRK 4465 99% . PTPRM 4540 100% . PTPRN 3032 98% . PTPRN2 3140 89% . PTPRO 3965 97% . PTPRQ 6557 9% . PTPRR 2044 100% . PTPRS 5995 94% . PTPRT 4520 97% . PTPRU 4487 96% . PTPRZ1 7072 100% . PTRF 1181 100% . PTRH1 1085 82% . PTRH2 544 100% . PTRHD1 431 100% . PTS 462 98% 6‐Pyruvoyltetrahydropterin Synthase Deficiency PTTG1 629 100% . PTTG1IP 894 82% . PTTG2 580 100% . PTX3 1158 83% . PTX4 1434 100% . PUF60 1728 96% . PUM1 3665 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:456

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PUM2 3281 100% . PURA 973 94% . PURB 943 100% . PURG 1157 99% . PUS1 1308 93% Mitochondrial Myopathy and Sideroblastic Anemia PUS10 1658 100% . PUS3 1458 100% . PUS7 2046 100% . PUS7L 2138 100% . PUSL1 944 72% . PVALB 349 100% . PVR 1315 94% . PVRIG 1001 95% . PVRL1 2024 100% Cleft Lip +/‐ Cleft Palate PVRL2 2055 92% . PVRL3 2249 68% . PVRL4 1569 100% . PWP1 1566 100% . PWP2 2844 97% . PWWP2A 2418 77% . PWWP2B 1799 90% . PXDC1 716 95% . PXDN 4612 96% . PXDNL 4484 95% . PXK 1809 94% . PXMP2 715 83% . PXMP4 675 100% . PXN 1971 96% . PXT1 417 59% . PYCARD 600 98% . PYCR1 1124 98% . PYCR2 991 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:457

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

PYCRL 885 87% . PYDC1 274 100% . PYDC2 1 0% . PYGB 2612 100% . PYGL 2624 100% Glycogen Storage Disease Type VI PYGM 2609 100% Glycogen Storage Disease Type V PYGO1 1272 100% . PYGO2 1233 91% . PYHIN1 1538 100% . PYROXD1 1551 100% . PYROXD2 1810 100% . PYY 518 100% . PZP 4627 100% . QARS 2551 100% . QDPR 763 100% Dihydropteridine Reductase Deficiency (DHPR) QKI 1595 80% . QPCT 1114 100% . QPCTL 1177 96% . QPRT 1011 100% . QRFP 415 100% . QRFPR 1320 100% . QRICH1 2369 100% . QRICH2 5068 100% . QRSL1 1742 99% . QSER1 5465 100% . QSOX1 2305 88% . QSOX2 2145 94% . QTRT1 1501 100% . QTRTD1 1301 100% . R3HCC1 1095 90% . R3HDM1 3438 100% . R3HDM2 3019 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:458

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

R3HDM4 839 90% . R3HDML 782 100% . RAB10 627 100% . RAB11A 806 100% . RAB11B 706 99% . RAB11FIP1 3909 99% . RAB11FIP2 1559 100% . RAB11FIP3 2346 81% . RAB11FIP4 1977 81% . RAB11FIP5 1982 99% . RAB12 759 93% . RAB13 644 100% . RAB14 676 100% . RAB15 798 100% . RAB17 659 100% . RAB18 740 97% . RAB19 724 100% . RAB1A 642 100% . RAB1B 630 98% . RAB20 713 100% . RAB21 706 99% . RAB22A 613 94% . RAB23 738 100% . RAB24 796 100% . RAB25 662 100% . RAB26 807 80% . RAB27A 686 100% , Type 2 RAB27B 677 100% . RAB28 834 93% . RAB2A 799 94% . RAB2B 683 100% . RAB30 628 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:459

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAB31 616 100% . RAB32 690 100% . RAB33A 722 100% . RAB33B 698 100% . RAB34 1063 99% . RAB35 1460 57% . RAB36 1168 99% . RAB37 1114 98% . RAB38 648 100% . RAB39A 662 100% . RAB39B 650 100% X‐Linked Mental Retardation 72 RAB3A 679 100% . RAB3B 676 100% . RAB3C 704 100% . RAB3D 676 100% . RAB3GAP1 3189 100% Warburg Micro Syndrome RAB3GAP2 4322 100% . RAB3IL1 1189 95% . RAB3IP 1535 100% . RAB40A 838 100% . RAB40AL 841 100% . RAB40B 861 100% . RAB40C 870 100% . RAB41 701 100% . RAB42 323 100% . RAB43 735 87% . RAB4A 689 95% . RAB4B 791 99% . RAB5A 682 100% . RAB5B 668 100% . RAB5C 672 100% . RAB6A 769 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:460

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAB6B 659 100% . RAB6C 769 99% . RAB7A 644 100% Charcot‐Marie‐Tooth Neuropathy Type 2 RAB7A 644 100% Charcot‐Marie‐Tooth Neuropathy Type 2B RAB7L1 632 100% . RAB8A 806 100% . RAB8B 656 100% . RAB9A 610 100% . RAB9B 610 100% . RABAC1 578 100% . RABEP1 2661 99% . RABEP2 1762 98% . RABEPK 1147 100% . RABGAP1 3444 100% . RABGAP1L 3641 99% . RABGEF1 1525 100% . RABGGTA 1768 100% . RABGGTB 1076 100% . RABIF 380 100% . RABL2A 752 98% . RABL2B 752 99% . RABL3 743 100% . RABL5 613 100% . RAC1 664 97% . RAC2 603 91% . 603 94% . RACGAP1 1963 100% . RAD1 869 100% . RAD17 2123 100% . RAD18 1544 100% . RAD21 1948 100% . RAD21L1 1723 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:461

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAD23A 1128 100% . RAD23B 1373 98% . RAD50 4039 100% . RAD51 1185 89% . RAD51AP1 1147 100% . RAD51AP2 3492 100% . RAD51B 1301 100% . RAD51C 1174 100% Fanconi Anemia RAD51C 1174 100% RAD51C‐Related Breast/Ovarian Cancer RAD51C 1174 100% RAD51C‐Related Fanconi Anemia RAD51D 1210 100% . RAD52 1356 100% . RAD54B 3319 100% . RAD54L 2316 100% . RAD54L2 4488 100% . RAD9A 1220 99% . RAD9B 1417 100% . RADIL 3498 84% . RAE1 1151 100% . RAET1E 809 100% . RAET1G 1060 84% . RAET1L 757 100% . RAF1 2011 100% LEOPARD Syndrome RAF1 2011 100% Noonan Syndrome RAF1 2011 100% RAF1‐Related LEOPARD Syndrome RAF1 2011 100% RAF1‐Related Noonan Syndrome RAG1 3136 100% Omenn Syndrome RAG1 3136 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell‐Negative, B Cell‐Negative, NK Cell‐Positive, RAG1/RAG2‐Related RAG2 1588 100% Omenn Syndrome RAG2 1588 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell‐Negative, B Cell‐Negative, NK Cell‐Positive, RAG1/RAG2‐Related RAI1 5929 100% Smith‐Magenis Syndrome RAI14 3080 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:462

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAI2 1597 100% . RALA 637 100% . RALB 684 100% . RALBP1 2004 100% . RALGAPA1 6492 100% . RALGAPA2 5845 98% . RALGAPB 4604 100% . RALGDS 3231 86% . RALGPS1 1978 99% . RALGPS2 1874 100% . RALY 949 100% . RALYL 643 94% . RAMP1 459 88% . RAMP2 559 82% . RAMP3 459 87% . 735 91% . RANBP1 1117 90% . RANBP10 2056 97% . RANBP17 3567 95% . RANBP2 9792 100% Susceptibility to Acute Necrotizing Encephalopathy 1 RANBP3 1775 100% . RANBP3L 1596 95% . RANBP6 3322 100% . RANBP9 2246 88% . RANGAP1 1824 95% . RANGRF 713 100% . RAP1A 579 100% . RAP1B 584 100% . RAP1GAP 2571 95% . RAP1GAP2 2289 97% . RAP1GDS1 1945 100% . RAP2A 560 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:463

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAP2B 556 98% . RAP2C 560 100% . RAPGEF1 3402 100% . RAPGEF2 4604 100% . RAPGEF3 3085 97% . RAPGEF4 3194 98% . RAPGEF5 2624 100% . RAPGEF6 5391 100% . RAPGEFL1 1442 99% . RAPH1 3994 100% . RAPSN 1271 92% Congenital Myasthenic Syndromes RAPSN 1271 92% RAPSN‐Related Congenital Myasthenic Syndrome RAPSN 1271 92% RAPSN‐Related Fetal Akinesia Deformation Sequence RARA 2126 100% . RARB 1379 100% . RARG 1552 94% . RARRES1 1037 62% . RARRES2 508 90% . RARRES3 595 100% . RARS 2043 98% . RARS2 1817 100% Pontocerebellar Hypoplasia Type 6 RASA1 3256 98% Capillary Malformation‐Arteriovenous Malformation Syndrome RASA1 3256 98% Hereditary Benign Telangiectasia RASA1 3256 98% , RASA1‐Related RASA1 3256 98% RASA1‐Related Disorders RASA2 2771 98% . RASA3 2622 93% . RASA4 2496 15% . RASAL1 2502 92% . RASAL2 3953 99% . RASAL3 3104 77% . RASD1 854 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:464

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RASD2 809 100% . RASEF 2291 97% . RASGEF1A 1500 98% . RASGEF1B 1669 100% . RASGEF1C 1453 95% . RASGRF1 3934 99% . RASGRF2 3822 100% . RASGRP1 2469 98% . RASGRP2 2072 92% . RASGRP3 2154 100% . RASGRP4 2094 97% . RASIP1 2936 61% . RASL10A 628 32% . RASL10B 624 100% . RASL11A 745 97% . RASL11B 763 100% . RASL12 821 96% . RASSF1 1222 85% . RASSF10 1569 96% . RASSF2 1021 100% . RASSF3 737 100% . RASSF4 1422 100% . RASSF5 1441 75% . RASSF6 1154 95% . RASSF7 1212 76% . RASSF8 1321 100% . RASSF9 1316 96% . RAVER1 2408 95% . RAVER2 2124 88% . RAX 1053 71% Anophthalmia/Microphthalmia RAX 1053 71% RAX‐Related Anophthalmia/Microphthalmia RAX2 563 73% Age‐Related Macular Degeneration UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:465

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RAX2 563 73% Age‐Related Macular Degeneration 6 RAX2 563 73% Cone‐Rod Dystrophy 11 RB1 2895 95% Retinoblastoma RB1CC1 4873 100% . RBAK 2161 100% . RBAK‐LOC389458 390 82% . RBBP4 1326 99% . RBBP5 1673 96% . RBBP6 5505 99% . RBBP7 1631 100% . RBBP8 2788 100% . RBBP9 581 100% . RBCK1 1600 94% . RBFA 1060 100% . RBFOX1 1411 100% . RBFOX2 1457 90% . RBFOX3 1124 59% . RBKS 1001 100% . RBL1 3304 100% . RBL2 3508 98% . RBM10 2886 98% TARP Syndrome RBM11 870 100% . RBM12 2825 100% . RBM12B 3010 100% . RBM14 2022 100% . RBM14‐RBM4 1052 100% . RBM15 2943 100% . RBM15B 2677 89% . RBM17 1351 100% . RBM18 593 100% . RBM19 2979 100% . RBM20 3740 80% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:466

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RBM22 1307 100% . RBM23 1372 96% . RBM24 773 100% . RBM25 2604 100% . RBM26 3039 100% . RBM27 3267 98% . RBM28 2356 100% . RBM3 698 97% . RBM33 3722 99% . RBM34 1568 99% . RBM38 736 99% . RBM39 1658 100% . RBM4 1253 91% . RBM41 1279 100% . RBM42 1483 98% . RBM43 1090 100% . RBM44 3215 100% . RBM45 1471 100% . RBM46 1618 100% . RBM47 1798 100% . RBM48 1239 100% . RBM4B 1088 100% . RBM5 2569 100% . RBM6 3548 100% . RBM7 821 100% . RBM8A 549 100% . RBMS1 1273 100% . RBMS2 1276 100% . RBMS3 1425 100% . RBMX 1263 100% . RBMX2 997 100% . RBMXL1 1177 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:467

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RBMXL2 1183 84% . RBMXL3 3208 95% . RBMY1A1 4610 10% . RBMY1B 6150 13% . RBMY1D 6150 13% . RBMY1E 4615 8% . RBMY1F 3070 5% . RBMY1J 3070 5% . RBP1 723 88% . RBP2 421 100% . RBP3 3760 100% . RBP4 626 100% . RBP5 424 100% . RBP7 476 100% . RBPJ 1610 100% . RBPJL 1612 92% . RBPMS 845 98% . RBPMS2 658 88% . RBX1 347 100% . RC3H1 3481 100% . RC3H2 3808 100% . RCAN1 866 75% Down Syndrome Critical Region RCAN2 839 100% . RCAN3 742 100% . RCBTB1 1640 100% . RCBTB2 1704 100% . RCC1 1408 100% . RCC2 1617 98% . RCCD1 1159 64% . RCE1 1022 98% . RCHY1 864 100% . RCL1 1328 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:468

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RCN1 1020 96% . RCN2 982 85% . RCN3 1011 80% . RCOR1 1497 82% . RCOR2 1620 78% . RCOR3 1743 100% . RCSD1 1279 99% . RCVRN 615 100% . RD3 596 99% Leber Congenital Amaurosis RD3 596 99% RD3‐Related Leber Congenital Amaurosis RDBP 1305 96% . RDH10 1050 76% . RDH11 985 100% . RDH12 979 100% LCA3‐Related Leber Congenital Amaurosis RDH12 979 100% Leber Congenital Amaurosis RDH12 979 100% RDH12‐Related Leber Congenital Amaurosis RDH13 1024 94% . RDH14 1019 61% . RDH16 970 100% . RDH5 973 100% RDH5‐Related Fundus Albipunctatus RDH8 960 100% . RDM1 960 100% . RDX 1804 100% DFNB24 Nonsyndromic Hearing Loss and Deafness RDX 1804 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive REC8 1717 100% . RECK 3000 97% . RECQL 2008 100% . RECQL4 3712 96% Baller‐Gerold Syndrome RECQL4 3712 96% RECQL4 3712 96% RECQL4‐Related Disorders RECQL4 3712 96% Rothmund‐Thomson Syndrome RECQL5 3216 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:469

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

REEP1 692 95% Spastic Paraplegia 31 REEP2 797 100% . REEP3 800 98% . REEP4 806 100% . REEP5 590 100% . REEP6 1571 79% . REG1A 521 100% . REG1B 617 100% . REG3A 548 100% . REG3G 548 100% . REG4 737 100% . REL 1908 99% . RELA 1700 99% . RELB 1775 94% . RELL1 840 97% . RELL2 936 100% . RELN 10648 100% Lissencephaly 2 RELT 1564 97% . REM1 913 98% . REM2 1043 83% . REN 1261 100% Familial Juvenile Hyperuricemic Nephropathy Type 2 RENBP 1332 96% . REP15 715 100% . REPIN1 1883 98% . REPS1 2471 100% . REPS2 2055 87% . RER1 725 100% . RERE 4789 91% . RERG 616 100% . RERGL 638 100% . RESP18 719 95% . REST 3321 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:470

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RET 3457 96% Hirschsprung Disease RET 3457 96% Multiple Endocrine Neoplasia Type 2 RET 3457 96% RET‐Related Hirschsprung Disease RETN 339 94% . RETNLB 348 100% . RETSAT 1877 100% . REV1 3844 100% . REV3L 9562 100% . REXO1 4182 79% . REXO1L1 3788 16% . REXO2 742 100% . REXO4 1301 100% . RFC1 3564 100% . RFC2 1188 100% . RFC3 1150 100% . RFC4 1136 100% . RFC5 1073 99% . RFESD 653 100% . RFFL 1116 100% . RFK 505 97% . RFNG 1419 75% . RFPL1 962 100% . RFPL2 1235 100% . RFPL3 969 100% . RFPL4A 881 94% . RFPL4B 796 100% . RFT1 1870 98% Congenital Disorders of Glycosylation RFT1 1870 98% RFT1‐CDG (CDG‐In) RFTN1 1773 100% . RFTN2 1542 96% . RFWD2 2280 91% . RFWD3 2373 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:471

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RFX1 3020 88% . RFX2 2240 89% . RFX3 2473 100% . RFX4 2485 99% . RFX5 1887 100% . RFX6 2863 100% . RFX7 4421 100% . RFX8 1530 100% . RFXANK 815 100% . RFXAP 831 68% . RG9MTD1 1216 100% . RG9MTD2 1048 100% . RG9MTD3 983 100% . RGAG1 4175 100% . RGAG4 1714 100% . RGL1 2484 100% . RGL2 2646 96% . RGL3 2209 91% . RGL4 1982 96% . RGMA 1370 99% . RGMB 1453 84% . RGN 924 99% . RGNEF 5499 97% . RGP1 1227 100% . RGPD1 10576 24% . RGPD2 10726 25% . RGPD3 5369 86% . RGPD4 5369 79% . RGPD5 16404 19% . RGPD6 11014 0% . RGPD8 5390 56% . RGR 922 100% Retinitis Pigmentosa, Autosomal Recessive UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:472

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RGR 922 100% RGR‐Related Retinitis Pigmentosa RGS1 650 100% . RGS10 602 91% . RGS11 1781 66% . RGS12 4496 100% . RGS13 496 100% . RGS14 1764 98% . RGS16 629 95% . RGS17 649 100% . RGS18 728 100% . RGS19 674 96% . RGS2 656 100% . RGS20 1264 98% . RGS21 4 0% . RGS22 3919 99% . RGS3 4373 97% . RGS4 933 95% . RGS5 566 100% . RGS6 1555 100% . RGS7 1532 100% . RGS7BP 798 100% . RGS8 651 100% . RGS9 2158 100% . RGS9BP 712 67% . RGSL1 21 0% . RHAG 1270 100% . RHBDD1 1040 100% . RHBDD2 1111 84% . RHBDD3 1181 87% . RHBDF1 2880 89% . RHBDF2 2998 99% . RHBDL1 1424 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:473

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RHBDL2 1065 100% . RHBDL3 1424 91% . RHBG 1602 95% . RHCE 1385 99% . RHCG 1480 100% . RHD 1509 91% . RHEB 587 99% . RHEBL1 630 100% . RHO 1067 100% Congenital Stationary Night Blindness, Autosomal Dominant 1 RHO 1067 100% Retinitis Pigmentosa, Autosomal Dominant RHO 1067 100% Retinitis Pigmentosa, Autosomal Recessive RHO 1067 100% RHO‐Related Retinitis Pigmentosa RHOA 598 100% . RHOB 595 100% . RHOBTB1 2127 100% . RHOBTB2 2222 100% . RHOBTB3 2044 100% . RHOC 677 100% . RHOD 653 81% . RHOF 656 70% . RHOG 580 100% . RHOH 580 100% . RHOJ 665 100% . RHOQ 638 100% . RHOT1 2563 89% . RHOT2 1933 98% . RHOU 789 86% . RHOV 801 85% . RHOXF1 567 100% . RHOXF2 1766 44% . RHOXF2B 1766 44% . RHPN1 2145 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:474

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RHPN2 2121 97% . RIBC1 1199 100% . RIBC2 952 99% . RIC3 1170 100% . RIC8A 1654 100% . RIC8B 1599 95% . RICTOR 5279 100% . RIF1 7559 100% . RIIAD1 295 0% . RILP 1238 65% . RILPL1 1240 98% . RILPL2 652 99% . RIMBP2 3227 99% . RIMBP3 4924 53% . RIMBP3B 9848 3% . RIMBP3C 9848 3% . RIMKLA 1196 86% . RIMKLB 1181 100% . RIMS1 5221 97% Cone‐Rod Dystrophy 7 RIMS2 4482 100% . RIMS3 951 100% . RIMS4 834 96% . RIN1 2607 90% . RIN2 2883 100% . RIN3 3147 98% . RING1 1275 98% . RINL 1394 85% . RINT1 2439 99% . RIOK1 1775 97% . RIOK2 1966 100% . RIOK3 1612 100% . RIPK1 2056 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:475

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RIPK2 1667 100% . RIPK3 1629 100% . RIPK4 2429 100% . RIPPLY1 520 100% . RIPPLY2 403 77% . RIT1 723 100% . RIT2 674 100% . RLBP1 982 100% Newfoundland Rod‐Cone Dystrophy RLBP1 982 100% Retinitis Pigmentosa, Autosomal Recessive RLBP1 982 100% Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RLBP1 982 100% RLBP1‐Related Fundus Albipunctatus RLF 5777 100% . RLIM 1887 100% . RLN1 566 100% . RLN2 671 84% . RLN3 437 100% . RLTPR 4460 93% . RMI1 1882 100% . RMI2 452 48% . RMND1 1394 100% . RMND5A 1212 93% . RMND5B 1313 100% . RNASE1 475 100% . RNASE10 660 100% . RNASE11 604 100% . RNASE12 448 100% . RNASE13 475 100% . RNASE2 490 100% . RNASE3 487 100% . RNASE4 448 100% . RNASE6 457 100% . RNASE7 475 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:476

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RNASE8 469 100% . RNASE9 639 100% . RNASEH1 897 100% . RNASEH2A 932 98% Aicardi‐Goutieres Syndrome RNASEH2A 932 98% RNASEH2A‐Related Aicardi‐Goutieres Syndrome RNASEH2B 1020 90% Aicardi‐Goutieres Syndrome RNASEH2B 1020 90% RNASEH2B‐Related Aicardi‐Goutieres Syndrome RNASEH2C 511 92% Aicardi‐Goutieres Syndrome RNASEH2C 511 92% RNASEH2C‐Related Aicardi‐Goutieres Syndrome RNASEK 343 100% . RNASEL 2250 100% Prostate Cancer RNASET2 1166 93% . 719 100% . 704 85% . 755 100% . RNF10 2519 100% . RNF103 2076 100% . RNF103‐CHMP3 788 100% . RNF11 477 100% . RNF111 3064 100% . RNF112 14 0% . RNF113A 1036 100% . RNF113B 977 100% . RNF114 766 91% . RNF115 951 100% . RNF121 1030 93% . RNF122 492 100% . RNF123 4154 100% . RNF125 723 100% . RNF126 972 68% . RNF128 1725 98% . RNF13 1192 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:477

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RNF130 1296 91% . RNF133 1135 100% . RNF135 1388 69% . RNF138 766 100% . RNF139 2003 100% . RNF14 1453 100% . RNF141 713 100% . RNF144A 911 100% . RNF144B 940 100% . RNF145 2123 100% . RNF146 1088 100% . RNF148 922 100% . RNF149 1231 100% . RNF150 1365 100% . RNF151 748 100% . RNF152 616 100% . RNF157 2116 99% . RNF165 1073 100% . RNF166 738 62% . RNF167 1089 100% . RNF168 1740 100% . RNF169 2151 81% . RNF17 5027 100% . RNF170 1012 100% . RNF175 1067 93% . RNF180 1831 97% . RNF181 807 100% . RNF182 748 100% . RNF183 583 100% . RNF185 714 100% . RNF186 688 100% . RNF187 397 78% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:478

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RNF19A 2553 100% . RNF19B 2261 72% . RNF2 1035 100% . RNF20 3004 100% . RNF207 1973 76% . RNF208 790 99% . RNF212 1514 100% . RNF213 17054 83% . RNF214 2168 100% . RNF215 1254 77% . RNF216 2936 100% . RNF217 902 100% . RNF219 2205 100% . RNF220 1958 100% . RNF222 667 48% . RNF223 754 1% . RNF224 416 1% . RNF24 534 89% . RNF25 1420 100% . RNF26 1306 100% . RNF31 3303 99% . RNF32 1138 100% . RNF34 1156 100% . RNF38 1596 100% . RNF39 1321 81% . RNF4 657 100% . RNF40 3238 96% . RNF41 974 100% . RNF43 2388 98% . RNF44 1600 82% . RNF5 652 94% . RNF6 2070 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:479

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RNF7 354 96% . RNF8 1584 97% . RNFT1 1344 100% . RNFT2 1442 100% . RNGTT 1978 100% . RNH1 1422 100% . RNLS 1133 100% . RNMT 1471 100% . RNMTL1 1494 100% . RNPC3 1610 27% . RNPEP 1997 78% . RNPEPL1 1523 94% . RNPS1 1176 100% . ROBO1 5187 100% . ROBO2 4248 100% Vesicoureteral Reflux 2 ROBO3 4273 99% Familial Horizontal Gaze Palsy with Progressive ROBO4 3096 100% . ROCK1 4197 100% . ROCK2 4308 100% . ROGDI 908 79% . ROM1 1068 100% Retinitis Pigmentosa, Autosomal Dominant ROM1 1068 100% ROM1‐Related Retinitis Pigmentosa ROMO1 271 100% . ROPN1 720 100% . ROPN1B 720 100% . ROPN1L 713 100% . ROR1 2858 97% . ROR2 2868 96% Brachydactyly, Type B1 ROR2 2868 96% ROR2‐Related Disorders ROR2 2868 96% ROR2‐Related RORA 2096 91% . RORB 1420 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:480

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RORC 1612 100% . ROS1 7216 100% . RP1 6483 100% Retinitis Pigmentosa, Autosomal Dominant RP1 6483 100% RP1‐Related Retinitis Pigmentosa RP1L1 7215 100% . RP2 1073 90% Retinitis Pigmentosa, X‐Linked RP2 1073 90% RP2‐Related Retinitis Pigmentosa RP9 690 78% Retinitis Pigmentosa, Autosomal Dominant RP9 690 78% RP9‐Related Retinitis Pigmentosa RPA1 1919 97% . RPA2 1109 100% . RPA3 382 100% . RPA4 790 100% . RPAIN 754 100% . RPAP1 4278 100% . RPAP2 1891 96% . RPAP3 2062 100% . RPE 769 100% . RPE65 1658 100% Leber Congenital Amaurosis RPE65 1658 100% Retinitis Pigmentosa, Autosomal Recessive RPE65 1658 100% RPE65‐Related Leber Congenital Amaurosis RPE65 1658 100% RPE65‐Related Retinitis Pigmentosa RPF1 1110 100% . RPF2 1000 100% . RPGR 4689 85% Retinitis Pigmentosa, X‐Linked RPGR 4689 85% RPGR‐Related Retinitis Pigmentosa RPGRIP1 4034 100% Cone‐Rod Dystrophy 13 RPGRIP1 4034 100% Leber Congenital Amaurosis RPGRIP1 4034 100% RPGRIP1‐Related Leber Congenital Amaurosis RPGRIP1L 4052 96% Joubert Syndrome RPGRIP1L 4052 96% Meckel Syndrome RPGRIP1L 4052 96% Nephronophthisis 8 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:481

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RPGRIP1L 4052 96% RPGRIP1L‐Related Joubert Syndrome RPGRIP1L 4052 96% RPGRIP1L‐Related Meckel Syndrome RPH3A 2165 99% . RPH3AL 980 85% . RPIA 972 99% Ribose 5‐Phosphate Deficiency RPL10 732 100% . RPL10A 678 100% . RPL10L 649 100% . RPL11 591 100% Diamond‐Blackfan Anemia RPL11 591 100% RPL11‐Related Diamond‐Blackfan Anemia RPL12 526 93% . RPL13 656 100% . RPL13A 644 100% . RPL14 835 85% . RPL15 724 89% . RPL17 580 100% . RPL17‐C18ORF32 697 100% . RPL18 707 100% . RPL18A 551 96% . RPL19 615 99% . RPL21 503 100% . RPL22 403 97% . RPL22L1 452 100% . RPL23 443 100% . RPL23A 491 95% . RPL24 558 100% . RPL26 478 100% . RPL26L1 450 100% . RPL27 427 100% . RPL27A 467 100% . RPL28 856 75% . RPL29 573 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:482

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RPL3 1530 99% . RPL30 364 100% . RPL31 466 100% . RPL32 474 100% . RPL34 370 100% . RPL35 389 100% . RPL35A 353 100% Diamond‐Blackfan Anemia RPL35A 353 100% RPL35A‐Related Diamond‐Blackfan Anemia RPL36 330 96% . RPL36A 380 100% . RPL36A‐HNRNPH2 1762 100% . RPL36AL 325 100% . RPL37 376 100% . RPL37A 295 100% . RPL38 229 100% . RPL39 168 99% . RPL39L 160 100% . RPL3L 1264 100% . RPL4 1324 100% . RPL41 90 100% . RPL5 930 100% Diamond‐Blackfan Anemia RPL5 930 100% RPL5‐Related Diamond‐Blackfan Anemia RPL6 891 100% . RPL7 780 100% . RPL7A 833 100% . RPL7L1 765 100% . RPL8 794 100% . RPL9 604 100% . RPLP0 982 100% . RPLP1 361 97% . RPLP2 364 100% . RPN1 1864 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:483

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RPN2 2472 85% . RPP14 395 100% . RPP21 630 92% . RPP25 604 83% . RPP30 1098 90% . RPP38 856 100% . RPP40 1124 100% . RPRD1A 967 100% . RPRD1B 1009 100% . RPRD2 4453 100% . RPRM 334 100% . RPRML 367 87% . RPS10 518 100% Diamond‐Blackfan Anemia RPS10 518 100% RPS10‐Related Diamond‐Blackfan Anemia RPS10‐NUDT3 908 100% . RPS11 497 100% . RPS12 419 100% . RPS13 480 100% . RPS14 472 100% . RPS15 454 92% . RPS15A 409 100% . RPS16 552 100% . RPS17 856 0% Diamond‐Blackfan Anemia RPS17 856 0% RPS17‐Related Diamond‐Blackfan Anemia RPS17L 856 0% . RPS18 509 94% . RPS19 458 100% Diamond‐Blackfan Anemia RPS19 458 100% RPS19‐Related Diamond‐Blackfan Anemia RPS19BP1 427 92% . RPS2 906 100% . RPS20 476 78% . RPS21 490 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:484

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RPS23 546 100% . RPS24 929 48% Diamond‐Blackfan Anemia RPS24 929 48% RPS24‐Related Diamond‐Blackfan Anemia RPS25 394 100% . RPS26 364 100% Diamond‐Blackfan Anemia RPS26 364 100% RPS26‐Related Diamond‐Blackfan Anemia RPS27 357 100% . RPS27A 491 100% . RPS27L 339 100% . RPS28 438 98% . RPS29 229 100% . RPS3 756 100% . RPS3A 819 100% . RPS4X 820 100% . RPS4Y1 820 100% . RPS4Y2 820 100% . RPS5 635 100% . RPS6 912 100% . RPS6KA1 2435 96% . RPS6KA2 2480 99% . RPS6KA3 2311 97% Coffin‐Lowry Syndrome RPS6KA4 2387 92% . RPS6KA5 2483 100% . RPS6KA6 2326 100% . RPS6KB1 1657 100% . RPS6KB2 1703 99% . RPS6KC1 3261 100% . RPS6KL1 1794 95% . RPS7 666 100% Diamond‐Blackfan Anemia RPS7 666 100% RPS7‐Related Diamond‐Blackfan Anemia RPS8 651 100% . RPS9 665 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:485

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RPSA 927 100% . RPTN 2363 100% . RPTOR 4144 97% . RPUSD1 959 98% . RPUSD2 1650 99% . RPUSD3 1321 100% . RPUSD4 1162 100% . RQCD1 932 100% . RRAD 943 82% . RRAGA 946 100% . RRAGB 1169 100% . RRAGC 1228 84% . RRAGD 1231 91% . RRAS 681 96% . RRAS2 640 100% . RRBP1 4325 100% . RREB1 5289 92% . RRH 1042 100% . RRM1 2455 99% . RRM2 1415 89% . RRM2B 1093 100% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form RRM2B 1093 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5 RRM2B 1093 100% RRM2B‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy RRN3 2088 100% . RRNAD1 1460 100% . RRP1 1530 84% . RRP12 4030 99% . RRP15 869 100% . RRP1B 2341 94% . RRP36 808 89% . RRP7A 871 92% . RRP8 1399 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:486

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RRP9 1488 98% . RRS1 1102 93% . RS1 699 100% X‐Linked Juvenile Retinoschisis RSAD1 1365 90% . RSAD2 1110 100% . RSBN1 2437 100% . RSBN1L 2573 100% . RSC1A1 1858 100% . RSF1 4390 97% . RSG1 797 95% . RSL1D1 1509 100% . RSL24D1 516 100% . RSPH1 966 100% . RSPH10B 5378 57% . RSPH10B2 5378 57% . RSPH3 1715 100% . RSPH4A 2175 100% Primary Ciliary Dyskinesia RSPH4A 2175 100% Primary Ciliary Dyskinesia11: RSPH4A‐Related Primary Ciliary Dyskinesia RSPH6A 2178 100% . RSPH9 990 100% Primary Ciliary Dyskinesia RSPH9 990 100% Primary Ciliary Dyskinesia12: RSPH9‐Related Primary Ciliary Dyskinesia RSPO1 829 100% . RSPO2 752 100% . RSPO3 839 100% . RSPO4 725 81% Anonychia Congenita RSPRY1 1787 100% . RSRC1 1074 100% . RSRC2 1370 100% . RSU1 871 100% . RTBDN 814 89% . RTCD1 1192 100% . RTDR1 1071 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:487

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RTEL1 4326 99% . RTF1 2205 91% . RTKN 1816 100% . RTKN2 1882 98% . RTL1 1 0% . RTN1 2432 88% . RTN2 1682 100% . RTN3 3209 100% . RTN4 3657 94% . RTN4IP1 1227 100% . RTN4R 1430 95% . RTN4RL1 1334 99% . RTN4RL2 1275 94% . RTP1 800 100% . RTP2 686 100% . RTP3 707 100% . RTP4 749 100% . RTTN 6877 100% . RUFY1 2199 88% . RUFY2 2234 100% . RUFY3 2398 85% . RUFY4 1820 100% . RUNDC1 1862 83% . RUNDC3A 1409 79% . RUNDC3B 1470 97% . RUNX1 1664 83% Familial Platelet Disorder with Associated Myeloid Malignancy RUNX1T1 1873 100% . RUNX2 1680 96% Cleidocranial Dysplasia RUNX3 1338 95% . RUSC1 2876 94% . RUSC1‐AS1 1 0% . RUSC2 4595 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:488

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

RUVBL1 1451 100% . RUVBL2 1557 100% . RWDD1 760 100% . RWDD2A 887 100% . RWDD2B 980 100% . RWDD3 835 94% . RWDD4 592 97% . RXFP1 2428 100% . RXFP2 2337 100% . RXFP3 1414 100% . RXFP4 1129 100% . RXRA 1429 98% . RXRB 1706 89% . RXRG 1432 100% . RYBP 968 88% . RYK 1889 88% . RYR1 15544 94% Central Core Disease RYR1 15544 94% Malignant Hyperthermia Susceptibility RYR1 15544 94% Multiminicore Disease RYR1 15544 94% RYR1‐Related Malignant Hyperthermia Susceptibility RYR1 15544 94% RYR1‐Related Multiminicore Disease RYR2 15325 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2 RYR2 15325 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant RYR2 15325 100% Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 15325 100% RYR2‐Related Catecholaminergic Polymorphic Ventricular Tachycardia RYR3 15044 100% . S100A1 306 100% . S100A10 302 100% . S100A11 330 100% . S100A12 296 100% . S100A13 305 100% . S100A14 327 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:489

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

S100A16 320 100% . S100A2 305 100% . S100A3 314 100% . S100A4 314 100% . S100A5 301 100% . S100A6 281 100% . S100A7 314 100% . S100A7A 314 100% . S100A7L2 351 94% . S100A8 290 100% . S100A9 353 100% . S100B 287 100% . S100G 248 100% . S100P 296 100% . S100PBP 1249 100% . S100Z 308 100% . S1PR1 1409 95% . S1PR2 1066 100% . S1PR3 1141 100% . S1PR4 1159 90% . S1PR5 1201 96% . SAA1 381 100% . SAA2 407 94% . SAA2‐SAA4 643 100% . SAA4 405 100% . SAAL1 1473 100% . SAC3D1 1224 44% . SACM1L 1844 99% . SACS 13776 99% ARSACS SAE1 1151 91% . SAFB 2838 82% . SAFB2 2988 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:490

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SAG 1577 100% Oguchi Disease 1 SAG 1577 100% Retinitis Pigmentosa, Autosomal Recessive SAG 1577 100% SAG‐Related Retinitis Pigmentosa SAGE1 2791 100% . SALL1 3987 100% Townes‐Brocks Syndrome SALL2 3032 100% . SALL3 3915 87% . SALL4 3178 100% Acro‐Renal‐Ocular Syndrome SALL4 3178 100% Duane‐Radial Ray Syndrome SALL4 3178 100% SALL4‐Related Disorders SAMD1 1346 50% . SAMD10 629 85% . SAMD11 2193 77% . SAMD12 650 100% . SAMD13 367 100% . SAMD14 1378 88% . SAMD15 2037 100% . SAMD3 1658 99% . SAMD4A 2314 96% . SAMD4B 2133 100% . SAMD5 530 99% . SAMD7 1369 100% . SAMD8 1321 100% . SAMD9 4774 100% . SAMD9L 4759 100% . SAMHD1 1996 100% SAMHD1‐Related Aicardi‐Goutieres Syndrome SAMM50 1470 99% . SAMSN1 1511 100% . SAP130 3337 99% . SAP18 647 100% . SAP25 616 69% . SAP30 679 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:491

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SAP30BP 971 100% . SAP30L 568 99% . SAPCD1 582 95% . SAR1A 639 100% . SAR1B 621 100% . SARDH 2905 94% SARM1 2209 77% . SARNP 677 100% . SARS 1589 100% . SARS2 1702 97% . SART1 2483 90% . SART3 2968 100% . SASH1 3828 100% . SASH3 1325 100% . SASS6 2042 100% . SAT1 860 100% . SAT2 774 100% . SATB1 2443 98% . SATB2 2242 94% . SATL1 2067 99% . SAV1 1172 100% . SAYSD1 560 100% . SBDS 777 100% Shwachman‐Diamond Syndrome SBF1 5849 96% . SBF2 5804 99% Charcot‐Marie‐Tooth Neuropathy Type 4 SBF2 5804 99% Charcot‐Marie‐Tooth Neuropathy Type 4B2 SBK1 1287 76% . SBK2 1059 67% . SBNO1 4306 100% . SBNO2 4582 82% . SBSN 6 0% . SC5DL 916 100% Lathosterolosis UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:492

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SCAF1 3979 78% . SCAF11 4469 100% . SCAF4 3524 100% . SCAF8 3899 100% . SCAI 1969 97% . SCAMP1 516 100% . SCAMP2 1026 94% . SCAMP3 1080 100% . SCAMP4 759 100% . SCAMP5 756 100% . SCAND1 545 74% . SCAND3 3998 100% . SCAP 3985 98% . SCAPER 4438 100% . SCARA3 1881 92% . SCARA5 1570 91% . SCARB1 1702 95% . SCARB2 1485 100% . SCARF1 2541 79% . SCARF2 2657 67% . SCCPDH 1338 97% . SCD 1104 100% . SCD5 1219 100% . SCEL 2195 100% . SCFD1 2053 99% . SCFD2 2091 100% . SCG2 1858 100% . SCG3 1455 100% . SCG5 797 100% . SCGB1A1 288 100% . SCGB1C1 300 100% . SCGB1D1 285 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:493

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SCGB1D2 285 100% . SCGB1D4 264 100% . SCGB2A1 300 100% . SCGB2A2 294 100% . SCGB2B2 303 86% . SCGB3A1 327 78% . SCGB3A2 294 100% . SCGN 875 100% . SCHIP1 1594 88% . SCIMP 479 100% . SCIN 2212 99% . SCLT1 2151 100% . SCLY 1702 82% . SCMH1 2179 100% . SCML1 1021 100% . SCML2 2162 100% . SCML4 1305 100% . SCN10A 5979 100% . SCN11A 5490 100% . SCN1A 6136 100% Familial Hemiplegic Migraine SCN1A 6136 100% Familial Hemiplegic Migraine 3 SCN1A 6136 100% SCN1A‐Related Seizure Disorders SCN1B 1036 83% Brugada Syndrome 5 SCN1B 1036 83% SCN1B‐Related Generalized Epilepsy with Febrile Seizures Plus SCN2A 6218 100% Benign Familial Neonatal Infantile Seizures SCN2A 6218 100% SCN2A‐Related Generalized Epilepsy with Febrile Seizures Plus SCN2B 664 100% . SCN3A 6203 100% . SCN3B 668 100% Brugada Syndrome 7 SCN4A 5608 100% Congenital Myasthenic Syndromes SCN4A 5608 100% Hyperkalemic Periodic Paralysis Type 1 SCN4A 5608 100% Hypokalemic Periodic Paralysis UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:494

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SCN4A 5608 100% Hypokalemic Periodic Paralysis Type 2 SCN4A 5608 100% Myotonia, Potassium‐Aggravated SCN4A 5608 100% Paramyotonia Congenita of Von Eulenburg SCN4A 5608 100% SCN4A‐Related Congenital Myasthenic Syndrome SCN4B 771 100% Long QT Syndrome 10 SCN5A 6260 100% Brugada Syndrome SCN5A 6260 100% Dilated Cardiomyopathy SCN5A 6260 100% Long QT Syndrome 3 SCN5A 6260 100% LQT3‐Related Romano Ward Syndrome SCN5A 6260 100% Paroxysmal Familial Ventricular Fibrillation 1 SCN5A 6260 100% Progressive Familial Heart Block, Type IA SCN5A 6260 100% Progressive Familial Heart Block, Type IA (319080) SCN5A 6260 100% Romano‐Ward Syndrome SCN5A 6260 100% SCN5A‐Associated Dilated Cardiomyopathy SCN5A 6260 100% SCN5A‐Related Dilated Cardiomyopathy SCN5A 6260 100% SCN5A‐Related Disorders SCN5A 6260 100% Sick Sinus Syndrome 1, Autosomal Recessive SCN7A 5150 100% . SCN8A 6064 100% . SCN9A 6075 100% Congenital Indifference to Pain, Autosomal Recessive SCN9A 6075 100% Paroxysmal Extreme Pain Disorder SCN9A 6075 100% SCN9A‐Related Inherited Erythromelalgia SCNM1 721 100% . SCNN1A 2236 100% Pseudohypoaldosteronism Type 1, Recessive SCNN1B 1979 100% Liddle Syndrome, SCNN1B‐Related SCNN1B 1979 100% Non‐Classic ‐Like Syndrome SCNN1B 1979 100% Pseudohypoaldosteronism Type 1, Recessive SCNN1D 2287 85% . SCNN1G 1998 100% Liddle Syndrome, SCNN1G‐Related SCNN1G 1998 100% Pseudohypoaldosteronism Type 1, Recessive SCO1 930 98% Leigh Syndrome (nuclear DNA mutation) SCO1 930 98% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:495

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SCO2 805 100% Fatal Infantile Cardioencephalomyopathy due to Oxidase Deficiency SCO2 805 100% Leigh Syndrome (nuclear DNA mutation) SCO2 805 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) SCOC 570 68% . SCP2 1762 99% . SCPEP1 1422 98% . SCRG1 305 100% . SCRIB 5184 92% . SCRN1 1389 100% . SCRN2 1324 100% . SCRN3 1387 100% . SCRT1 1055 59% . SCRT2 932 82% . SCT 442 35% . SCTR 1375 94% . SCUBE1 3165 93% . SCUBE2 3179 94% . SCUBE3 3070 98% . SCXA 1228 3% . SCXB 1228 3% . SCYL1 2499 94% . SCYL2 2858 100% . SCYL3 2281 100% . SDAD1 2196 100% . SDC1 953 93% . SDC2 626 90% . SDC3 1431 90% . SDC4 617 98% . SDCBP 929 100% . SDCBP2 1001 98% . SDCCAG3 1564 93% . SDCCAG8 2232 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:496

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SDF2 648 100% . SDF2L1 678 62% . SDF4 1307 100% . SDHA 2091 99% Leigh Syndrome (nuclear DNA mutation) SDHA 2091 99% Mitochondrial Respiratory Chain Complex II Deficiency SDHA 2091 99% Mitochondrial Respiratory Chain Complex II Deficiency, SDHA‐Related SDHAF1 352 40% Mitochondrial Respiratory Chain Complex II Deficiency SDHAF1 352 40% Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1‐Related SDHAF2 517 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes SDHAF2 517 100% SDHAF2‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome SDHB 875 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes SDHB 875 100% SDHB‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome SDHC 641 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes SDHC 641 100% SDHC‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome SDHD 496 100% Hereditary Paraganglioma‐Pheochromocytoma Syndromes SDHD 496 100% SDHD‐Related Hereditary Paraganglioma‐Pheochromocytoma Syndrome SDK1 6920 95% . SDK2 6872 98% . SDPR 1286 100% . SDR16C5 954 100% . SDR39U1 1001 100% . SDR42E1 1190 100% . SDR9C7 958 100% . SDS 1015 100% . SDSL 1018 100% . SEBOX 677 100% . SEC11A 564 100% . SEC11C 603 100% . SEC13 1219 100% . SEC14L1 2228 100% . SEC14L2 1362 96% . SEC14L3 1251 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:497

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SEC14L4 1291 98% . SEC14L5 2151 99% . SEC14L6 1242 96% . SEC16A 7144 99% . SEC16B 3474 100% . SEC22A 967 100% . SEC22B 668 100% . SEC22C 982 100% . SEC23A 2374 100% . SEC23B 2380 100% . SEC23IP 3138 100% . SEC24A 3477 100% . SEC24B 3903 97% . SEC24C 3373 100% . SEC24D 3226 100% . SEC31A 3859 98% . SEC31B 3640 100% . SEC61A1 1662 100% . SEC61A2 1587 100% . SEC61B 307 92% . SEC61G 219 100% . SEC62 1279 97% . SEC63 2367 100% Polycystic Liver Disease SECISBP2 2633 98% . SECISBP2L 3378 99% . SECTM1 763 100% . SEH1L 1319 100% . SEL1L 2469 100% . SEL1L2 2147 100% . SEL1L3 3495 95% . SELE 1881 100% . SELENBP1 1601 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:498

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SELK 305 100% . SELL 1194 100% . SELM 462 84% . SELO 2046 73% . SELP 2564 100% . SELPLG 1244 100% . SELRC1 708 100% . SELS 594 94% . SELT 608 100% . SELV 1061 65% . SEMA3A 2384 100% . SEMA3B 18 0% . SEMA3C 2324 100% . SEMA3D 2402 100% . SEMA3E 2396 100% . SEMA3F 2451 99% . SEMA3G 2413 95% . SEMA4A 2342 100% Cone‐Rod Dystrophy 10 SEMA4A 2342 100% Retinitis Pigmentosa, Autosomal Dominant SEMA4A 2342 100% SEMA4A‐Related Retinitis Pigmentosa SEMA4B 2575 97% . SEMA4C 2558 100% . SEMA4D 3252 97% . SEMA4F 2369 98% . SEMA4G 2786 96% . SEMA5A 3309 100% . SEMA5B 3676 93% . SEMA6A 3175 100% . SEMA6B 2731 73% . SEMA6C 3248 83% . SEMA6D 3337 100% . SEMA7A 2057 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:499

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SEMG1 1397 100% . SEMG2 1757 100% . SENP1 2047 100% . SENP2 2063 100% . SENP3 1766 100% . SENP5 2304 100% . SENP6 3439 98% . SENP7 3293 100% . SENP8 643 100% . SEPHS1 1211 100% . SEPHS2 1456 89% . SEPN1 1825 83% Congenital Fiber‐Type Disproportion SEPN1 1825 83% Multiminicore Disease SEPN1 1825 83% SEPN1‐Related Congenital Fiber‐Type Disproportion SEPN1 1825 83% SEPN1‐Related Multiminicore Disease SEPN1 1825 83% SEPN1‐Related Myopathy SEPN1 1825 83% SEPN1‐Related myopathy (319480) SEPP1 1163 100% . SEPSECS 1558 96% . SEPW1 284 99% . SEPX1 727 96% . SERAC1 2109 100% . SERBP1 1259 100% . SERF1A 888 16% . SERF1B 888 16% . SERF2 525 100% . SERGEF 1421 96% . SERHL2 1009 71% . SERINC1 1402 100% . SERINC2 1483 96% . SERINC3 1462 100% . SERINC4 919 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:500

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SERINC5 1473 86% . SERP1 333 100% . SERP2 210 100% . SERPINA1 1288 100% Alpha1‐Antitrypsin Deficiency SERPINA10 1351 100% . SERPINA11 1285 100% . SERPINA12 1261 100% . SERPINA3 1296 100% . SERPINA4 1300 100% . SERPINA5 1237 100% . SERPINA6 1234 100% . SERPINA7 1264 100% . SERPINA9 1410 100% . SERPINB1 1164 100% . SERPINB10 1231 100% . SERPINB11 1207 100% . SERPINB12 1306 100% . SERPINB13 1221 100% . SERPINB2 1276 100% . SERPINB3 1201 100% . SERPINB4 1206 100% . SERPINB5 1152 100% . SERPINB6 1165 100% . SERPINB7 1171 100% . SERPINB8 1162 100% . SERPINB9 1155 100% . SERPINC1 1423 100% Antithrombin‐III Deficiency SERPIND1 1516 100% . SERPINE1 1241 100% Plasminogen Activator Inhibitor I SERPINE2 1270 99% . SERPINE3 7 0% . SERPINF1 1285 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:501

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SERPINF2 1522 100% . SERPING1 1675 94% Hereditary Angioedema SERPINH1 1273 100% . SERPINI1 1271 100% Familial Encephalopathy with Neuroserpin Inclusion Bodies SERPINI2 1250 100% . SERTAD1 715 99% . SERTAD2 949 100% . SERTAD3 595 100% . SERTAD4 1083 100% . SERTM1 328 100% . SESN1 1806 94% . SESN2 1483 94% . SESN3 1548 100% . SESTD1 2214 100% . SET 1073 92% . SETBP1 5004 98% . SETD1A 5196 98% . SETD1B 5840 41% . SETD2 7779 100% . SETD3 1909 100% . SETD4 1386 100% . SETD5 4507 100% . SETD6 1748 80% . SETD7 1169 100% . SETD8 1091 88% . SETDB1 4051 100% . SETDB2 2287 100% . SETMAR 2145 67% . SETX 8130 100% Amyotrophic Lateral Sclerosis SETX 8130 100% Ataxia with Oculomotor Apraxia 2 SETX 8130 100% SETX‐Related Amyotrophic Lateral Sclerosis SEZ6 3085 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:502

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SEZ6L 3143 97% . SEZ6L2 2844 100% . SF1 2673 83% . SF3A1 2446 98% . SF3A2 1427 81% . SF3A3 1574 98% . SF3B1 4089 100% . SF3B14 394 100% . SF3B2 2782 100% . SF3B3 3754 100% . SF3B4 1299 97% . SF3B5 265 100% . SFI1 3857 98% . SFMBT1 2681 100% . SFMBT2 2801 99% . SFN 751 100% . SFPQ 2164 75% . SFR1 953 98% . SFRP1 957 99% . SFRP2 900 100% . SFRP4 1131 100% . SFRP5 966 97% . SFSWAP 2928 100% . SFT2D1 512 93% . SFT2D2 515 87% . SFT2D3 652 4% . SFTA2 264 94% . SFTA3 301 100% . SFTPA1 815 100% . SFTPA2 763 100% . SFTPB 1186 94% Pulmonary Surfactant Metabolism Dysfunction SFTPB 1186 94% SFTPB‐Related Pulmonary Surfactant Metabolism Dysfunction UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:503

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SFTPC 614 100% Familial Pulmonary Fibrosis SFTPC 614 100% Pulmonary Surfactant Metabolism Dysfunction SFTPC 614 100% SFTPC‐Related Familial Pulmonary Fibrosis SFTPC 614 100% SFTPC‐Related Pulmonary Surfactant Metabolism Dysfunction SFTPC 614 100% Deficiency SFTPD 1159 100% . SFXN1 1009 100% . SFXN2 1013 100% . SFXN3 1085 99% . SFXN4 1358 100% . SFXN5 1079 97% . SGCA 1260 97% Alpha‐Sarcoglycanopathy SGCA 1260 97% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive SGCA 1260 97% Sarcoglycanopathies SGCB 981 96% Beta‐Sarcoglycanopathy SGCB 981 96% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive SGCB 981 96% Sarcoglycanopathies SGCD 977 100% Delta‐Sarcoglycanopathy SGCD 977 100% Dilated Cardiomyopathy SGCD 977 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive SGCD 977 100% Sarcoglycanopathies SGCD 977 100% SGCD‐Related Dilated Cardiomyopathy SGCE 1510 95% Myoclonus‐Dystonia SGCG 904 100% Gamma‐Sarcoglycanopathy SGCG 904 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive SGCG 904 100% Sarcoglycanopathies SGCZ 971 99% . SGIP1 2672 100% . SGK1 2049 98% . SGK110 1095 57% . SGK196 1061 100% . SGK2 1332 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:504

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SGK223 4229 99% . SGK3 1555 100% . SGK494 864 100% . SGMS1 1280 100% . SGMS2 1118 100% . SGOL1 1738 100% . SGOL2 3872 100% . SGPL1 1816 100% . SGPP1 1338 86% . SGPP2 1220 82% . SGSH 1541 94% Mucopolysaccharidosis Type IIIA SGSM1 3551 98% . SGSM2 3331 100% . SGSM3 2466 99% . SGTA 982 93% . SGTB 955 100% . SH2B1 2460 100% . SH2B2 1669 76% . SH2B3 1756 79% . SH2D1A 403 100% Lymphoproliferative Disease, X‐Linked SH2D1A 403 100% SH2D1A‐Related Lymphoproliferative Disease, X‐Linked SH2D1B 415 100% . SH2D2A 1232 88% . SH2D3A 1850 87% . SH2D3C 3079 95% . SH2D4A 1402 100% . SH2D4B 1158 91% . SH2D5 1351 97% . SH2D6 544 95% . SH2D7 1380 100% . SH3BGR 744 100% . SH3BGRL 361 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:505

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SH3BGRL2 340 99% . SH3BGRL3 657 58% . SH3BP1 2178 91% . SH3BP2 1823 93% SH3BP4 2908 98% . SH3BP5 1404 94% . SH3BP5L 1260 99% . SH3D19 2433 100% . SH3D21 2337 90% . SH3GL1 1147 100% . SH3GL2 1095 100% . SH3GL3 1080 100% . SH3GLB1 1205 100% . SH3GLB2 1232 88% . SH3KBP1 2373 100% . SH3PXD2A 3374 97% . SH3PXD2B 2788 100% . SH3RF1 2711 100% . SH3RF2 2226 100% . SH3RF3 2689 73% . SH3TC1 4105 93% . SH3TC2 4110 100% Charcot‐Marie‐Tooth Neuropathy Type 4 SH3TC2 4110 100% Charcot‐Marie‐Tooth Neuropathy Type 4C SH3YL1 1113 100% . SHANK1 6703 79% . SHANK2 5601 92% . SHANK3 5336 66% Autism Spectrum Disorders SHARPIN 1196 83% . SHB 1554 77% . SHBG 1241 100% . SHC1 1804 100% . SHC2 1797 73% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:506

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SHC3 1833 87% . SHC4 1941 100% . SHCBP1 2071 100% . SHCBP1L 2219 92% . SHD 1047 100% . SHE 1512 89% . SHF 1326 100% . SHFM1 225 100% . SHH 1401 81% Holoprosencephaly SHH 1401 81% SHH‐Related Holoprosencephaly SHISA2 896 67% . SHISA3 725 91% . SHISA4 614 88% . SHISA5 857 79% . SHISA6 1680 92% . SHISA7 1633 20% . SHISA8 496 0% . SHISA9 1525 79% . SHKBP1 2196 98% . SHMT1 1713 100% . SHMT2 1591 100% . SHOC2 1781 100% Noonan‐Like Syndrome with Loose Anagen Hair SHOX 954 71% Langer Mesomelic Dwarfism SHOX 954 71% Leri‐Weill Dyschondrosteosis SHOX 954 71% SHOX‐Related Haploinsufficiency Disorders SHOX 954 71% SHOX‐Related Short Stature SHOX2 1096 88% . SHPK 1465 100% . SHPRH 5212 100% . SHQ1 1778 96% . SHROOM1 2587 86% . SHROOM2 4891 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:507

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SHROOM3 6035 97% . SHROOM4 4518 100% . SI 5688 100% . SIAE 1777 100% . SIAH1 996 100% . SIAH2 983 95% . SIAH3 818 100% . SIDT1 2584 98% . SIDT2 2705 100% . SIGIRR 1554 90% . SIGLEC1 5319 98% . SIGLEC10 2148 100% . SIGLEC11 2141 96% . SIGLEC12 1849 100% . SIGLEC14 1219 81% . SIGLEC15 1011 67% . SIGLEC5 1692 87% . SIGLEC6 1427 100% . SIGLEC7 1432 100% . SIGLEC8 1579 100% . SIGLEC9 1421 100% . SIGMAR1 688 89% . SIK1 2404 93% . SIK2 2841 95% . SIK3 4115 97% . SIKE1 656 100% . SIL1 1432 98% Marinesco‐Sjogren Syndrome SIM1 2345 100% Prader‐Willi‐like Syndrome Associated with 6 SIM2 2185 79% . SIN3A 3902 100% . SIN3B 3569 96% . SIPA1 3189 80% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:508

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SIPA1L1 5499 100% . SIPA1L2 5253 100% . SIPA1L3 5426 97% . SIRPA 1559 95% . SIRPB1 2354 77% . SIRPB2 1108 100% . SIRPD 617 100% . SIRPG 1184 98% . SIRT1 2280 83% . SIRT2 1385 100% . SIRT3 1240 89% . SIRT4 957 100% . SIRT5 1012 100% . SIRT6 1102 76% . SIRT7 1243 86% . SIT1 611 99% . SIVA1 544 99% . SIX1 863 100% Branchiootorenal Spectrum Disorders SIX1 863 100% DFNA23 Nonsyndromic Hearing Loss and Deafness SIX1 863 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant SIX1 863 100% SIX1‐Related Branchiootorenal Spectrum Disorders SIX2 884 100% . SIX3 1007 100% Anophthalmia/Microphthalmia SIX3 1007 100% Holoprosencephaly SIX3 1007 100% SIX3‐Related Holoprosencephaly SIX4 2358 96% . SIX5 2232 67% Branchiootorenal Spectrum Disorders SIX5 2232 67% SIX5‐Related Branchiootorenal Spectrum Disorders SIX6 926 100% Anophthalmia/Microphthalmia SIX6 926 100% SIX6‐Related Eye Disorders SKA1 792 100% . SKA2 514 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:509

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SKA3 1322 97% . SKAP1 1128 97% . SKAP2 1128 100% . SKI 2215 81% . SKIL 2079 100% . SKIV2L 4005 97% . SKIV2L2 3272 100% . SKOR1 2934 78% . SKP1 539 100% . SKP2 1491 100% . SLA 994 91% . SLA2 814 100% . SLAIN1 1937 64% . SLAIN2 1782 81% . SLAMF1 1036 100% . SLAMF6 1031 100% . SLAMF7 1075 100% . SLAMF8 878 100% . SLAMF9 886 100% . SLBP 894 76% . SLC10A1 1070 100% . SLC10A2 1071 100% . SLC10A3 1580 98% . SLC10A4 1326 75% . SLC10A5 1321 100% . SLC10A6 1158 100% . SLC10A7 1116 100% . SLC11A1 1713 100% . SLC11A2 1920 100% Hypochromic Microcytic Anemia with Iron Overload SLC12A1 3504 100% Antenatal Bartter Syndrome Type 1 SLC12A2 3747 92% . SLC12A3 3197 98% Gitelman Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:510

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC12A4 3356 100% . SLC12A5 3584 95% . SLC12A6 3675 100% Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum SLC12A7 3356 96% . SLC12A8 2345 100% . SLC12A9 2797 96% . SLC13A1 1848 100% . SLC13A2 1974 100% . SLC13A3 1861 94% . SLC13A4 1945 95% . SLC13A5 1755 100% . SLC14A1 1374 89% . SLC14A2 2839 100% . SLC15A1 2660 100% . SLC15A2 2288 100% . SLC15A3 1778 72% . SLC15A4 1937 74% . SLC15A5 1776 79% . SLC16A1 1519 100% . SLC16A10 1593 94% . SLC16A11 1432 89% . SLC16A12 1485 100% . SLC16A13 1297 100% . SLC16A14 1637 100% . SLC16A2 1866 95% MCT8 (SLC16A2)‐Specific Thyroid Hormone Cell Transporter Deficiency SLC16A3 1414 94% . SLC16A4 1516 100% . SLC16A5 1586 100% . SLC16A6 1592 100% . SLC16A7 1453 100% . SLC16A8 1531 53% . SLC16A9 1550 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:511

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC17A1 1448 100% . SLC17A2 1369 100% . SLC17A3 1541 100% . SLC17A4 1622 100% . SLC17A5 1532 99% Free Sialic Acid Storage Disorders SLC17A5 1532 99% Salla Disease SLC17A6 1797 100% . SLC17A7 1731 100% . SLC17A8 1818 100% DFNA25 Nonsyndromic Hearing Loss and Deafness SLC17A8 1818 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant SLC17A9 1363 95% . SLC18A1 1638 99% . SLC18A2 1605 100% . SLC18A3 1603 100% . SLC19A1 1978 97% . SLC19A2 1518 89% Thiamine‐Responsive Megaloblastic Anemia Syndrome SLC19A3 1515 100% Disease, ‐Responsive SLC1A1 1623 100% Dicarboxylicaminoaciduria SLC1A2 1769 100% . SLC1A3 1666 100% Episodic Ataxia Type 6 SLC1A4 1631 97% . SLC1A5 1665 92% . SLC1A6 1731 100% . SLC1A7 1727 100% . SLC20A1 2174 100% . SLC20A2 1999 100% . SLC22A1 1709 100% . SLC22A10 1666 100% . SLC22A11 1693 94% . SLC22A12 1702 100% Renal Hypouricemia 1 SLC22A13 1696 100% . SLC22A14 1825 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:512

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC22A15 1692 100% . SLC22A16 1766 97% . SLC22A17 1653 85% . SLC22A18 1364 79% . SLC22A18AS 2 0% . SLC22A2 1716 100% . SLC22A20 1074 100% . SLC22A23 2389 82% . SLC22A24 1835 65% . SLC22A25 1680 100% . SLC22A3 1718 89% . SLC22A31 1088 66% . SLC22A4 1696 100% . SLC22A5 1870 100% Carnitine Deficiency, Systemic SLC22A6 1732 100% . SLC22A7 2052 100% . SLC22A8 1904 96% . SLC22A9 1702 100% . SLC23A1 1911 99% . SLC23A2 2013 100% . SLC23A3 1905 99% . SLC24A1 3337 100% . SLC24A2 2026 100% . SLC24A3 2003 95% . SLC24A4 1886 100% . SLC24A5 1539 100% . SLC24A6 1815 97% . SLC25A1 972 82% . SLC25A10 935 89% . SLC25A11 977 100% . SLC25A12 2109 100% Global Cerebral Hypomyelination SLC25A13 2103 99% Citrin Deficiency UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:513

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC25A13 2103 99% Citrullinemia Type II SLC25A14 1019 100% . SLC25A15 930 100% Hyperornithinemia‐‐Homocitrullinuria Syndrome SLC25A16 1035 97% . SLC25A17 1048 100% . SLC25A18 984 100% . SLC25A19 987 100% Amish Lethal Microcephaly SLC25A2 910 100% . SLC25A20 942 99% Carnitine‐Acylcarnitine Deficiency SLC25A21 941 98% . SLC25A22 1008 98% Epileptic Encephalopathy, Early Infantile, 3 SLC25A23 1447 100% . SLC25A24 1604 97% . SLC25A25 1997 99% . SLC25A26 865 77% . SLC25A27 1103 100% . SLC25A28 1111 88% . SLC25A29 928 88% . SLC25A3 1243 100% Mitochondrial Phosphate Carrier Deficiency SLC25A30 912 100% . SLC25A31 972 100% . SLC25A32 976 100% . SLC25A33 994 94% . SLC25A34 935 94% . SLC25A35 953 100% . SLC25A36 978 95% . SLC25A37 1062 100% . SLC25A38 943 100% Congenital Sideroblastic Anemia SLC25A38 943 100% Pyridoxine‐Refractory Sideroblastic Anemia, Autosomal Recessive SLC25A39 1124 95% . SLC25A4 913 88% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2 SLC25A40 1057 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:514

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC25A41 1141 100% . SLC25A42 985 96% . SLC25A43 1046 73% . SLC25A44 957 100% . SLC25A45 1104 100% . SLC25A46 1310 92% . SLC25A47 951 100% . SLC25A48 494 99% . SLC25A5 913 100% . SLC25A6 917 100% . SLC26A1 2217 92% . SLC26A10 1826 98% . SLC26A11 1885 97% . SLC26A2 2228 100% SLC26A2 2228 100% Atelosteogenesis Type II SLC26A2 2228 100% SLC26A2 2228 100% Multiple Epiphyseal Dysplasia, Recessive SLC26A2 2228 100% ‐Related SLC26A3 2375 100% Familial Chloride Diarrhea SLC26A4 2423 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive SLC26A4 2423 95% Pendred Syndrome/DFNB4 SLC26A5 2354 100% DFNB61 Nonsyndromic Hearing Loss and Deafness SLC26A6 2489 99% . SLC26A7 2104 100% . SLC26A8 3066 100% . SLC26A9 2752 100% . SLC27A1 2046 95% . SLC27A2 1903 100% . SLC27A3 2597 99% . SLC27A4 1990 100% . SLC27A5 2113 97% . SLC27A6 1900 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:515

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC28A1 2089 97% . SLC28A2 2045 100% . SLC28A3 2148 100% . SLC29A1 1470 100% . SLC29A2 1419 96% . SLC29A3 1452 100% Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism SLC29A4 1633 100% . SLC2A1 1770 99% Dystonia 18 SLC2A1 1770 99% Glucose Transporter Type 1 Deficiency Syndrome SLC2A10 1646 100% Arterial Tortuosity Syndrome SLC2A11 2082 99% . SLC2A12 1874 100% . SLC2A13 2027 90% . SLC2A14 1603 94% . SLC2A2 1619 100% Fanconi‐Bickel Syndrome SLC2A3 1531 100% . SLC2A4 1635 100% . SLC2A4RG 1196 75% . SLC2A5 1718 98% . SLC2A6 1646 86% . SLC2A7 1587 94% . SLC2A8 1474 76% . SLC2A9 1738 92% Renal Hypouricemia 2 SLC30A1 1532 100% . SLC30A10 1474 92% . SLC30A2 1151 100% . SLC30A3 1199 99% . SLC30A4 1318 100% . SLC30A5 2537 97% . SLC30A6 1566 92% . SLC30A7 1175 100% . SLC30A8 1142 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:516

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC30A9 1779 100% . SLC31A1 589 100% . SLC31A2 593 99% . SLC32A1 1586 100% . SLC33A1 1674 100% Spastic Paraplegia 42 SLC34A1 2059 96% Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 SLC34A2 2121 100% . SLC34A3 1848 88% Hereditary Hypophosphatemic Rickets with Hypercalciuria SLC35A1 1103 98% Congenital Disorders of Glycosylation SLC35A1 1103 98% SLC35A1‐CDG (CDG‐IIf) SLC35A2 1546 93% . SLC35A3 1024 100% . SLC35A4 1080 100% . SLC35A5 1299 100% . SLC35B1 1181 100% . SLC35B2 1315 99% . SLC35B3 1286 100% . SLC35B4 1036 92% . SLC35C1 1103 100% Congenital Disorders of Glycosylation SLC35C1 1103 100% SLC35C1‐CDG (CDG‐IIc) SLC35C2 1134 100% . SLC35D1 1116 100% . SLC35D2 1066 86% . SLC35D3 1259 89% . SLC35E1 1257 86% . SLC35E2 834 70% . SLC35E2B 1250 67% . SLC35E3 1086 100% . SLC35E4 1061 95% . SLC35F1 1259 100% . SLC35F2 1157 99% . SLC35F3 1505 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:517

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC35F4 1384 100% . SLC35F5 1647 98% . SLC35G1 1110 84% . SLC35G3 1021 100% . SLC35G5 1021 100% . SLC35G6 1025 100% . SLC36A1 1471 100% . SLC36A2 1492 100% . SLC36A3 1631 92% . SLC36A4 1559 100% . SLC37A1 1678 100% . SLC37A2 1610 100% . SLC37A3 1725 100% . SLC37A4 1578 100% Glycogen Storage Disease Type I SLC37A4 1578 100% Glycogen Storage Disease Type Ib SLC38A1 1645 100% . SLC38A10 3702 99% . SLC38A11 1261 100% . SLC38A2 1581 100% . SLC38A3 15 0% . SLC38A4 1704 100% . SLC38A5 1679 95% . SLC38A6 1724 83% . SLC38A7 1429 96% . SLC38A8 1348 100% . SLC38A9 1789 100% . SLC39A1 987 100% . SLC39A10 2532 100% . SLC39A11 1044 100% . SLC39A12 2124 100% . SLC39A13 1152 100% Spondylocheirodysplasia, Ehlers‐Danlos Syndrome‐Like SLC39A14 1803 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:518

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC39A2 946 100% . SLC39A3 1061 100% . SLC39A4 2109 98% . SLC39A5 1681 100% . SLC39A6 2316 100% . SLC39A7 1476 98% . SLC39A8 1493 82% . SLC39A9 953 100% . SLC3A1 2258 100% SLC3A2 2041 83% . SLC40A1 1748 100% SLC40A1‐Related Hereditary Hemochromatosis SLC41A1 1582 100% . SLC41A2 1762 100% . SLC41A3 1950 100% . SLC43A1 1736 100% . SLC43A2 2015 88% . SLC43A3 1563 100% . SLC44A1 2038 98% . SLC44A2 2210 98% . SLC44A3 2132 93% . SLC44A4 2349 94% . SLC44A5 2363 100% . SLC45A1 2303 100% . SLC45A2 1701 100% Oculocutaneous Albinism Type 4 SLC45A3 1678 100% . SLC45A4 2436 100% . SLC46A1 1401 100% Hereditary Folate Malabsorption SLC46A2 1444 100% . SLC46A3 1420 100% . SLC47A1 1781 93% . SLC47A2 1877 100% . SLC48A1 1117 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:519

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC4A1 2816 99% Hemolytic Anemia due to Band 3 Montefiore SLC4A1 2816 99% Renal Tubular Acidosis, Distal, Autosomal Dominant SLC4A1 2816 99% Renal Tubular Acidosis, Distal, Autosomal Recessive SLC4A1 2816 99% Spherocytosis, Type 4 SLC4A10 3462 100% . SLC4A11 2975 98% . SLC4A1AP 2447 100% . SLC4A2 3855 96% . SLC4A3 3893 99% . SLC4A4 3773 99% Proximal Renal Tubular Acidosis with Ocular Abnormalities SLC4A5 3534 100% . SLC4A7 3749 100% . SLC4A8 3436 99% . SLC4A9 3036 97% . SLC50A1 690 100% . SLC5A1 2055 100% Glucose‐ Malabsorption SLC5A10 1899 100% . SLC5A11 2088 100% . SLC5A12 1955 100% . SLC5A2 2149 100% Renal Glucosuria SLC5A3 2161 100% . SLC5A4 2040 100% . SLC5A5 1992 98% Thyroid Hormonogenesis Defect I SLC5A6 1968 100% . SLC5A7 1775 100% . SLC5A8 1893 100% . SLC5A9 2181 100% . SLC6A1 1856 100% . SLC6A11 1959 99% . SLC6A12 1901 99% . SLC6A13 1957 100% . SLC6A14 1985 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:520

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC6A15 2351 100% . SLC6A16 2294 100% . SLC6A17 2228 100% . SLC6A18 1939 100% . SLC6A19 2051 100% SLC6A2 2062 100% . SLC6A20 1823 99% . SLC6A3 1919 95% Parkinsonism‐Dystonia, Infantile SLC6A4 2068 100% SLC6A4‐Related Behavior Disorders SLC6A5 2458 100% Hyperekplexia SLC6A5 2458 100% SLC6A5‐Related Hyperekplexia SLC6A6 1919 100% . SLC6A7 1967 98% . SLC6A8 3126 99% Creatine Deficiency Syndromes SLC6A8 3126 99% SLC6A8‐Related Creatine Transporter Deficiency SLC6A9 2211 100% . SLC7A1 1934 100% . SLC7A10 2019 98% . SLC7A11 1554 100% . SLC7A13 1429 100% . SLC7A14 2344 100% . SLC7A2 2286 100% . SLC7A3 1904 99% . SLC7A4 1924 100% . SLC7A5 1564 99% . SLC7A6 1584 100% . SLC7A6OS 950 100% . SLC7A7 1614 100% Lysinuric Protein Intolerance SLC7A8 1652 100% . SLC7A9 1512 100% Cystinuria SLC8A1 3070 100% . SLC8A2 3030 89% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:521

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLC8A3 2923 100% . SLC9A1 2680 99% . SLC9A10 3646 100% . SLC9A11 3483 100% . SLC9A2 2487 100% . SLC9A3 2573 89% . SLC9A3R1 1184 90% . SLC9A3R2 1149 68% . SLC9A4 2445 100% . SLC9A5 2837 95% . SLC9A6 2170 100% SLC9A6‐Related Syndromic Mental Retardation SLC9A7 2246 98% . SLC9A8 1858 98% . SLC9A9 2015 100% . SLC9B1 1829 100% . SLC9B2 1658 100% . SLCO1A2 2140 100% . SLCO1B1 2132 100% . SLCO1B3 2165 100% . SLCO1B7 2038 100% . SLCO1C1 2298 100% . SLCO2A1 1988 98% . SLCO2B1 2186 100% . SLCO3A1 2260 94% . SLCO4A1 2334 98% . SLCO4C1 2227 100% . SLCO5A1 2583 100% . SLCO6A1 2212 100% . SLFN11 2722 98% . SLFN12 1749 100% . SLFN12L 1878 94% . SLFN13 2710 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:522

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SLFN14 2755 0% . SLFN5 2692 100% . SLFNL1 1240 98% . SLIRP 346 100% . SLIT1 4783 96% . SLIT2 4848 100% . SLIT3 4718 95% . SLITRK1 2095 100% Tourette Syndrome SLITRK2 2542 100% . SLITRK3 2938 100% . SLITRK4 2518 100% . SLITRK5 2881 100% . SLITRK6 2530 100% . SLK 3784 100% . SLMAP 2685 100% . SLMO1 543 87% . SLMO2 609 100% . SLN 100 100% . SLPI 415 100% . SLTM 3189 100% . SLU7 1821 100% . SLURP1 324 100% Mal de Meleda SLX1A 1704 27% . SLX1B 1704 27% . SLX4 5561 99% Fanconi Anemia SLX4 5561 99% SLX4‐Related Fanconi Anemia SMAD1 1422 100% . SMAD2 1444 100% . SMAD3 1392 94% . SMAD4 1703 100% Hereditary Hemorrhagic Telangiectasia SMAD4 1703 100% Juvenile Polyposis Syndrome SMAD4 1703 100% Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:523

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SMAD4 1703 100% SMAD4‐Related Hereditary Hemorrhagic Telangiectasia SMAD4 1703 100% SMAD4‐Related Juvenile Polyposis SMAD5 1480 100% . SMAD6 1545 58% . SMAD7 1297 80% . SMAD9 1428 100% . SMAGP 331 100% . SMAP1 1477 100% . SMAP2 1348 100% . SMARCA1 3261 99% . SMARCA2 4925 98% . SMARCA4 5189 98% . SMARCA5 3255 96% . SMARCAD1 3179 100% . SMARCAL1 2929 100% Schimke Immunoosseous Dysplasia SMARCB1 1248 99% Familial Posterior Fossa Brain Tumor of Infancy SMARCB1 1248 99% Schwannomatosis SMARCC1 3430 100% . SMARCC2 3977 100% . SMARCD1 1600 89% . SMARCD2 1648 87% . SMARCD3 1597 86% . SMARCE1 1276 100% . SMC1A 3803 100% Cornelia de Lange Syndrome SMC1A 3803 100% SMC1A‐Related Cornelia de Lange Syndrome SMC1B 3830 100% . SMC2 3690 100% . SMC3 3770 100% SMC3‐Related Cornelia de Lange Syndrome SMC4 3959 98% . SMC5 3406 100% . SMC6 3380 100% . SMCHD1 6210 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:524

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SMCP 355 100% . SMCR7 1596 100% . SMCR7L 1408 100% . SMCR8 2826 100% . SMCR9 3 0% . SMEK1 2562 100% . SMEK2 2618 100% . SMG1 11241 99% . SMG5 3139 100% . SMG6 4336 97% . SMG7 3889 99% . SMG8 2992 100% . SMG9 1615 100% . SMN1 1834 6% Spinal Muscular Atrophy SMN1 1834 6% Spinal Muscular Atrophy (SMN1) SMN2 1854 6% Spinal Muscular Atrophy SMN2 1854 6% Spinal Muscular Atrophy (SMN2) SMNDC1 737 100% . SMO 2412 85% . SMOC1 1356 99% . SMOC2 1430 87% . SMOX 1786 98% . SMPD1 1960 100% Deficiency SMPD2 1458 100% . SMPD3 1996 99% . SMPD4 2819 99% . SMPDL3A 1394 92% . SMPDL3B 1517 100% . SMPX 279 100% . SMR3A 413 100% . SMR3B 248 100% . SMS 1145 95% Mental Retardation, X‐Linked, Snyder‐Robinson Type UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:525

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SMTN 3828 93% . SMTNL1 1515 100% . SMTNL2 1418 65% . SMU1 1590 100% . SMUG1 1050 100% . SMURF1 2357 96% . SMURF2 2323 98% . SMYD1 1517 100% . SMYD2 1350 99% . SMYD3 1335 99% . SMYD4 2455 99% . SMYD5 1309 100% . SNAI1 807 100% . SNAI2 819 100% Piebald Trait, SNAI2‐Related SNAI3 891 100% . SNAP23 664 100% . SNAP25 771 100% . SNAP29 797 100% . SNAP47 1813 94% . SNAP91 2832 100% . SNAPC1 1147 100% . SNAPC2 1025 92% . SNAPC3 1277 94% . SNAPC4 4498 100% . SNAPC5 309 100% . SNAPIN 427 100% . SNCA 485 100% Parkinson Disease SNCA 485 100% SNCA‐Related Parkinson Disease SNCAIP 2962 100% Parkinson Disease SNCB 425 100% . SNCG 456 100% . SND1 2832 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:526

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SNED1 4553 93% . SNF8 813 100% . SNIP1 1207 100% . SNN 271 100% . SNPH 1633 95% . SNRK 2318 100% . SNRNP200 6591 100% SNRNP200‐Related Retinitis Pigmentosa SNRNP25 419 100% . SNRNP27 566 100% . SNRNP35 764 100% . SNRNP40 1199 100% . SNRNP48 1056 97% . SNRNP70 1350 80% . SNRPA 873 100% . SNRPA1 873 96% . SNRPB 907 100% . SNRPB2 702 100% . SNRPC 575 100% . SNRPD1 376 100% . SNRPD2 369 100% . SNRPD3 393 100% . SNRPE 299 100% . SNRPF 277 100% . SNRPG 247 99% . SNRPN 751 100% Autism Spectrum Disorders SNRPN 751 100% Autistic Disorder SNTA1 1550 81% Long QT Syndrome 12 SNTB1 1645 99% . SNTB2 1651 77% . SNTG1 1622 100% . SNTG2 1688 95% . SNTN 460 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:527

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SNUPN 1120 100% . SNURF 228 100% . SNW1 1765 100% . SNX1 1630 95% . SNX10 630 100% . SNX11 837 100% . SNX12 505 100% . SNX13 3019 100% . SNX14 2975 100% . SNX15 1061 100% . SNX16 1063 100% . SNX17 1497 96% . SNX18 2149 86% . SNX19 3023 100% . SNX2 1622 99% . SNX20 1106 97% . SNX21 1168 98% . SNX22 759 78% . SNX24 576 100% . SNX25 2599 100% . SNX27 1667 96% . SNX29 2499 100% . SNX3 505 100% . SNX30 1350 90% . SNX31 1379 99% . SNX32 1379 97% . SNX33 1733 100% . SNX4 1409 95% . SNX5 1267 96% . SNX6 1313 93% . SNX7 1392 87% . SNX8 1442 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:528

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SNX9 1860 99% . SOAT1 1713 100% . SOAT2 1629 95% . SOBP 2646 88% . SOCS1 690 71% . SOCS2 605 88% . SOCS3 682 95% . SOCS4 1327 100% . SOCS5 1615 100% . SOCS6 1612 100% . SOCS7 1782 72% . SOD1 485 100% Amyotrophic Lateral Sclerosis SOD1 485 100% SOD1‐Related Amyotrophic Lateral Sclerosis SOD2 949 91% . SOD3 727 73% . SOHLH1 1237 99% . SOHLH2 1322 100% . SOLH 3305 84% . SON 7821 100% . SORBS1 4200 97% . SORBS2 4679 97% . SORBS3 2188 94% . SORCS1 3845 95% . SORCS2 3633 90% . SORCS3 3777 87% . SORD 1110 93% . SORL1 6837 98% . SORT1 2576 88% . SOS1 4094 100% Noonan Syndrome SOS1 4094 100% SOS1‐Related Noonan Syndrome SOS2 4091 100% . SOST 650 98% SOST‐Related Sclerosing Bone Dysplasias UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:529

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SOSTDC1 629 100% . SOWAHA 1654 39% . SOWAHB 2386 92% . SOWAHC 1582 54% . SOWAHD 952 67% . SOX1 1180 44% . SOX10 1413 96% Waardenburg Syndrome Type II SOX10 1413 96% Waardenburg Syndrome Type IIE SOX10 1413 96% Waardenburg Syndrome Type IVC SOX11 1330 68% . SOX12 952 68% . SOX13 1969 100% . SOX14 727 100% . SOX15 765 89% . SOX17 1253 84% . SOX18 1163 48% Hypotrichosis‐Lymphedema‐Telangiectasia Syndrome 958 100% Anophthalmia/Microphthalmia SOX2 958 100% SOX2‐Related Eye Disorders SOX21 835 54% . SOX3 1345 78% Mental Retardation, X‐Linked, with Growth Hormone Deficiency SOX30 2282 93% . SOX4 1429 83% . SOX5 2362 100% . SOX6 2633 100% . SOX7 1175 100% . SOX8 1353 87% . SOX9 1542 100% SP1 2382 100% . SP100 3359 100% . SP110 2279 100% Hepatic Veno‐occlusive Disease with Immunodeficiency SP140 2829 98% . SP140L 1837 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:530

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SP2 1870 99% . SP3 2374 94% . SP4 2421 100% . SP5 1205 70% . SP6 1135 98% . SP7 1304 98% . SP8 1535 73% . SP9 1463 76% . SPA17 472 100% . SPACA1 913 96% . SPACA3 668 100% . SPACA4 379 100% . SPACA5 992 22% . SPACA5B 992 22% . SPACA7 616 100% . SPAG1 2853 88% . SPAG11A 453 73% . SPAG11B 1078 55% . SPAG16 2005 99% . SPAG17 6875 99% . SPAG4 1389 98% . SPAG5 3678 100% . SPAG6 1804 99% . SPAG7 712 100% . SPAG8 1779 100% . SPAG9 4343 100% . SPAM1 1597 97% . SPANXA1 604 0% . SPANXA2 604 0% . SPANXB1 640 0% . SPANXB2 640 0% . SPANXC 304 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:531

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SPANXD 302 100% . SPANXE 302 100% . SPANXF1 640 0% . SPANXN1 227 100% . SPANXN2 551 96% . SPANXN3 434 100% . SPANXN4 308 100% . SPANXN5 227 100% . SPARC 948 100% . SPARCL1 2041 100% . SPAST 1919 99% Spastic Paraplegia 4 SPATA12 577 100% . SPATA13 4213 100% . SPATA16 1750 100% . SPATA17 1126 100% . SPATA18 1719 100% . SPATA19 528 100% . SPATA2 1571 100% . SPATA20 2892 97% . SPATA21 1549 100% . SPATA22 1124 100% . SPATA24 1087 100% . SPATA25 692 100% . SPATA2L 1283 89% . SPATA3 601 100% . SPATA4 942 100% . SPATA5 2746 100% . SPATA5L1 2384 93% . SPATA6 1519 100% . SPATA7 1918 100% Leber Congenital Amaurosis SPATA7 1918 100% SPATA7‐Related Leber Congenital Amaurosis SPATA8 330 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:532

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SPATA9 785 100% . SPATC1 1796 100% . SPATS1 935 100% . SPATS2 1687 100% . SPATS2L 1743 100% . SPC24 618 99% . SPC25 699 100% . SPCS1 526 89% . SPCS2 701 84% . SPCS3 565 100% . SPDEF 1028 100% . SPDYA 980 100% . SPDYC 910 100% . SPDYE1 1035 100% . SPDYE2 2528 21% . SPDYE2L 2528 21% . SPDYE3 1690 81% . SPDYE4 738 100% . SPDYE5 7 0% . SPDYE6 7 0% . SPECC1 3337 99% . SPECC1L 3450 100% . SPEF1 810 100% . SPEF2 5646 100% . SPEG 9980 81% . SPEM1 994 100% . SPEN 11055 100% . SPERT 1359 92% . SPESP1 1061 100% . SPG11 7527 100% Spastic Paraplegia 11 SPG20 2033 100% Troyer Syndrome SPG21 959 100% Mast Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:533

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SPG7 2918 94% Spastic Paraplegia 7 SPHAR 196 100% . SPHK1 1437 94% . SPHK2 2214 97% . SPHKAP 5151 100% . SPI1 836 98% . SPIB 813 80% . SPIC 760 100% . SPICE1 2636 100% . SPIN1 809 100% . SPIN2A 781 85% . SPIN2B 781 86% . SPIN3 781 100% . SPIN4 754 100% . SPINK1 260 100% Hereditary Pancreatitis SPINK1 260 100% SPINK1‐Related Hereditary Pancreatitis SPINK13 301 100% . SPINK14 310 88% . SPINK2 421 51% . SPINK4 277 100% . SPINK5 3502 100% SPINK6 259 100% . SPINK7 274 100% . SPINK8 314 100% . SPINK9 277 100% . SPINLW1 461 100% . SPINLW1‐WFDC6 603 100% . SPINT1 1630 100% . SPINT2 787 88% . SPINT3 278 100% . SPINT4 312 100% . SPIRE1 2391 86% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:534

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SPIRE2 2349 89% . SPN 1207 100% . SPNS1 1662 97% . SPNS2 1698 78% . SPNS3 1587 99% . SPO11 1243 100% . SPOCD1 4022 94% . SPOCK1 1360 100% . SPOCK2 1368 92% . SPOCK3 1367 100% . SPON1 2487 97% . SPON2 1016 83% . SPOP 1162 100% . SPOPL 1219 100% . SPP1 970 100% . SPP2 664 100% . SPPL2A 1623 96% . SPPL2B 1937 92% . SPPL3 1200 97% . SPR 798 65% Sepiapterin Reductase Deficiency SPRED1 1363 100% SPRED2 1302 99% . SPRED3 1293 71% . SPRN 1 0% . SPRR1A 274 100% . SPRR1B 274 100% . SPRR2A 223 100% . SPRR2B 223 100% . SPRR2D 223 100% . SPRR2E 223 100% . SPRR2F 223 100% . SPRR2G 226 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:535

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SPRR3 514 100% . SPRR4 244 100% . SPRY1 964 100% . SPRY2 952 100% . SPRY3 872 100% . SPRY4 977 100% . SPRYD3 1373 98% . SPRYD4 632 100% . SPRYD5 1383 100% . SPRYD7 611 100% . SPSB1 830 100% . SPSB2 2 0% . SPSB3 1092 100% . SPSB4 830 72% . SPTA1 7468 100% Spherocytosis, Type 3 SPTAN1 7681 100% . SPTB 7208 99% Spherocytosis, Type 2 SPTBN1 7435 100% . SPTBN2 7317 100% Spinocerebellar Ataxia Type 5 SPTBN4 7929 79% . SPTBN5 11293 97% . SPTLC1 1643 100% Hereditary Sensory and Autonomic Neuropathy II SPTLC1 1643 100% Hereditary Sensory Neuropathy Type I SPTLC2 1737 92% . SPTLC3 1707 100% . SPTSSA 224 100% . SPTSSB 235 100% . SPTY2D1 2082 100% . SPZ1 1297 100% . SQLE 1769 100% . SQRDL 1389 100% . SQSTM1 1488 95% Paget Disease of Bone UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:536

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SRA1 731 98% . SRBD1 3068 100% . SRC 1655 99% . SRCAP 9896 100% . SRCIN1 3785 76% . SRCRB4D 1768 79% . SRD5A1 800 94% . SRD5A2 784 100% Prostate Cancer SRD5A2 784 100% Steroid 5‐Alpha‐Reductase Deficiency SRD5A3 977 98% Congenital Disorders of Glycosylation SRD5A3 977 98% SRD5A3‐CDG (CDG‐Iq) SREBF1 3807 93% . SREBF2 3502 96% . SREK1 1923 92% . SREK1IP1 530 100% . SRF 1663 86% . SRFBP1 1322 100% . SRGAP1 3346 100% . SRGAP2 3043 96% . SRGAP3 3423 100% . SRGN 489 100% . SRI 657 93% . SRL 1446 100% . SRM 941 95% . SRMS 1499 90% . SRP14 431 100% . SRP19 496 100% . SRP54 1575 100% . SRP68 1953 100% . SRP72 2092 100% . SRP9 385 71% . SRPK1 2145 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:537

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SRPK2 2334 99% . SRPK3 1876 97% . SRPR 1973 100% . SRPRB 844 100% . SRPX 1435 98% . SRPX2 1438 100% Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X‐Linked SRR 1051 100% . SRRD 1048 80% . SRRM1 2783 100% . SRRM2 8318 100% . SRRM3 2349 69% . SRRM4 1888 100% . SRRM5 2316 18% . SRRT 2840 100% . SRSF1 895 100% . SRSF10 922 29% . SRSF11 1681 100% . SRSF12 814 100% . SRSF2 738 100% . SRSF3 515 100% . SRSF4 1509 100% . SRSF5 847 100% . SRSF6 1059 88% . SRSF7 772 100% . SRSF8 340 96% . SRSF9 682 100% . SRXN1 422 81% . SRY 619 100% 46,XX Testicular Disorder of Sex Development SRY 619 100% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis SRY 619 100% SRY‐Related 46,XY DSD and 46,XY CGD SS18 1310 99% . SS18L1 1235 92% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:538

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SS18L2 246 100% . SSB 1271 100% . SSBP1 471 100% . SSBP2 1199 97% . SSBP3 1290 97% . SSBP4 1230 77% . SSC5D 4779 84% . SSFA2 3948 96% . SSH1 3603 98% . SSH2 4336 100% . SSH3 2036 97% . SSNA1 372 100% . SSPN 744 82% . SSPO 16587 94% . SSR1 901 100% . SSR2 593 100% . SSR3 631 100% . SSR4 733 95% . SSRP1 3186 99% . SSSCA1 616 100% . SST 359 88% . SSTR1 1466 84% . SSTR2 1114 100% . SSTR3 1261 100% . SSTR4 1171 100% . SSTR5 1099 100% . SSU72 968 100% . SSX1 591 100% . SSX2 1482 0% . SSX2B 1182 0% . SSX2IP 1900 100% . SSX3 658 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:539

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SSX4 1252 28% . SSX4B 1252 28% . SSX5 818 100% . SSX7 591 100% . ST13 1158 100% . ST14 2644 95% . ST18 3224 100% . ST20 248 80% . ST20‐MTHFS 552 91% . ST3GAL1 1047 100% . ST3GAL2 1077 100% . ST3GAL3 1387 100% . ST3GAL4 1073 99% . ST3GAL5 1442 94% . ST3GAL6 1043 100% . ST5 3515 100% . ST6GAL1 1241 100% . ST6GAL2 1697 100% . ST6GALNAC1 1839 100% . ST6GALNAC2 1161 91% . ST6GALNAC3 954 100% . ST6GALNAC4 929 100% . ST6GALNAC5 1031 100% . ST6GALNAC6 1153 100% . ST7 2257 100% . ST7L 1827 100% . ST8SIA1 1095 100% . ST8SIA2 1152 94% . ST8SIA3 1159 100% . ST8SIA4 1104 100% . ST8SIA5 1159 100% . ST8SIA6 1229 91% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:540

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

STAB1 7989 99% . STAB2 7932 99% . STAC 1253 100% . STAC2 1280 98% . STAC3 1139 100% . STAG1 3909 100% . STAG2 3939 100% . STAG3 4116 100% . STAM 1679 100% . STAM2 1634 100% . STAMBP 1311 100% . STAMBPL1 1351 100% . STAP1 924 100% . STAP2 1402 87% . STAR 886 100% Cholesterol Desmolase‐Deficient Congenital Adrenal Hyperplasia STARD10 900 100% . STARD13 3549 100% . STARD3 1394 100% . STARD3NL 733 100% . STARD4 721 100% . STARD5 666 100% . STARD6 687 100% . STARD7 1147 98% . STARD8 3372 99% . STARD9 13975 50% . STAT1 2353 100% Familial Atypical Mycobacteriosis, STAT1‐Related STAT2 2713 100% . STAT3 2405 100% Autosomal Dominant Hyper IgE Syndrome STAT4 2339 100% . STAT5A 2457 96% . STAT5B 2436 96% Growth Hormone Insensitivity with Immunodeficiency STAT6 2628 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:541

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

STATH 205 100% . STAU1 1800 100% . STAU2 1790 96% . STBD1 1085 100% . STC1 760 100% . STC2 925 100% . STEAP1 1067 100% . STEAP1B 1128 100% . STEAP2 1568 100% . STEAP3 1517 100% . STEAP4 1432 100% . STH 2 0% . STIL 3987 100% Primary Autosomal Recessive Microcephaly STIL 3987 100% Primary Autosomal Recessive Microcephaly Type 7 STIM1 2106 100% . STIM2 2619 85% . STIP1 1688 99% . STK10 2983 98% . STK11 1340 98% Peutz‐Jeghers Syndrome STK11IP 3693 100% . STK16 1081 100% . STK17A 1273 96% . STK17B 1147 100% . STK19 1269 92% . STK24 1426 97% . STK25 1440 100% . STK3 1634 91% . STK31 3158 100% . STK32A 1240 100% . STK32B 1293 100% . STK32C 1570 92% . STK33 1593 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:542

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

STK35 1617 71% . STK36 4052 100% . STK38 1450 100% . STK38L 1447 100% . STK39 1710 88% . STK4 1508 97% . STK40 1528 100% . STMN1 627 76% . STMN2 561 100% . STMN3 563 89% . STMN4 675 100% . STOM 895 93% . STOML1 1225 99% . STOML2 1111 100% . STOML3 933 97% . STON1 2220 100% . STON1‐GTF2A1L 3656 100% . STON2 2739 100% . STOX1 2986 89% . STOX2 2797 100% . STRA13 208 92% . STRA6 2249 91% . STRA8 1029 89% . STRADA 1402 100% . STRADB 1325 100% . STRAP 1093 100% . STRBP 2087 100% . STRC 5558 44% CATSPER‐Related Male Infertility STRC 5558 44% Deafness‐Infertility Syndrome STRC 5558 44% DFNB16 Nonsyndromic Hearing Loss and Deafness STRC 5558 44% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive STRN 2415 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:543

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

STRN3 2466 94% . STRN4 2351 87% . STS 1792 100% Ichthyosis, X‐Linked STT3A 2186 100% . STT3B 2562 99% . STUB1 940 88% . STX10 850 100% . STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis 4 STX12 867 100% . STX16 1017 100% Pseudohypoparathyroidism Type IB STX17 937 100% . STX18 1055 100% . STX19 889 100% . STX1A 1113 97% . STX1B 907 100% . STX2 989 97% . STX3 962 95% . STX4 956 97% . STX5 1150 93% . STX6 800 100% . STX7 822 100% . STX8 743 97% . STXBP1 1975 98% Epileptic Encephalopathy, Early Infantile, 4 STXBP2 2652 78% Familial Hemophagocytic Lymphohistiocytosis STXBP2 2652 78% Familial Hemophagocytic Lymphohistiocytosis 5 STXBP3 1855 97% . STXBP4 1732 100% . STXBP5 3568 100% . STXBP5L 3730 100% . STXBP6 798 100% . STYK1 1305 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:544

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

STYX 716 100% . STYXL1 1099 100% . SUB1 402 100% . SUCLA2 1436 99% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form SUCLA2 1436 99% SUCLA2‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SUCLG1 1095 91% Fatal Infantile Lactic Acidosis SUCLG1 1095 91% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form SUCLG1 1095 91% SUCLG1‐Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SUCLG2 1487 88% . SUCNR1 1013 100% . SUDS3 1035 89% . SUFU 1663 100% Medulloblastoma, SUFU‐Related SUGP1 1994 100% . SUGP2 3436 99% . SUGT1 1154 91% . SULF1 2692 100% . SULF2 2693 97% . SULT1A1 1290 94% . SULT1A2 916 100% . SULT1A3 1959 7% . SULT1A4 1959 7% . SULT1B1 919 100% . SULT1C2 1060 91% . SULT1C3 943 100% . SULT1C4 937 100% . SULT1E1 913 100% . SULT2A1 882 100% . SULT2B1 1152 99% . SULT4A1 883 96% . SULT6B1 826 100% . SUMF1 1161 99% Sulfatidosis, Juvenile, Austin Type SUMF2 1327 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:545

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SUMO1 326 100% Cleft Lip +/‐ Cleft Palate SUMO2 304 100% . SUMO3 538 95% . SUMO4 292 100% . SUN1 2573 100% . SUN2 2530 99% . SUN3 1188 100% . SUN5 1344 95% . SUOX 1650 100% Sulfocysteinuria SUPT16H 3248 100% . SUPT3H 1164 100% . SUPT4H1 374 100% . SUPT5H 3563 100% . SUPT6H 5325 100% . SUPT7L 1273 100% . SUPV3L1 2421 100% . SURF1 939 88% Leigh Syndrome (nuclear DNA mutation) SURF1 939 88% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) SURF2 795 82% . SURF4 834 94% . SURF6 1106 100% . SUSD1 2316 95% . SUSD2 2529 99% . SUSD3 788 88% . SUSD4 1658 100% . SUSD5 1910 94% . SUV39H1 1270 99% . SUV39H2 1257 98% . SUV420H1 2714 100% . SUV420H2 1421 90% . SUZ12 2284 98% . SV2A 2281 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:546

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SV2B 2100 100% . SV2C 2232 100% . SVEP1 10924 99% . SVIL 6785 100% . SVIP 250 94% . SVOP 1509 60% . SVOPL 1539 100% . SWAP70 1806 98% . SWI5 728 100% . SWSAP1 698 100% . SWT1 2775 100% . SYAP1 1095 95% . SYBU 2035 99% . SYCE1 1151 100% . SYCE1L 808 54% . SYCE2 681 100% . SYCE3 275 70% . SYCN 413 100% . SYCP1 3055 100% . SYCP2 4765 100% . SYCP2L 2555 100% . SYCP3 782 100% Azoospermia due to Perturbations of Meiosis SYCP3 782 100% SYCP3‐Related Pregnancy Loss, Susceptibility to SYDE1 2240 64% . SYDE2 3661 92% . SYF2 760 100% . SYK 1960 100% . SYMPK 4225 91% . SYN1 2170 67% Epilepsy, X‐Linked, with Variable Learning Disabilities and Behavior Disorders SYN2 1895 86% . SYN3 1795 96% . SYNC 1531 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:547

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SYNCRIP 1958 100% . SYNDIG1 789 100% . SYNDIG1L 729 100% . SYNE1 27469 100% SYNE1‐ Related Emery‐Dreifuss Muscular Dystrophy SYNE1 27469 100% SYNE1‐Related Autosomal Recessive Cerebellar Ataxia SYNE2 21229 100% SYNE2‐Related Emery‐Dreifuss Muscular Dystrophy SYNGAP1 4140 96% Mental Retardation, Autosomal Dominant 5 SYNGR1 1019 97% . SYNGR2 691 85% . SYNGR3 706 66% . SYNGR4 721 100% . SYNJ1 5001 98% . SYNJ2 4649 95% . SYNJ2BP 454 100% . SYNJ2BP‐COX16 718 100% . SYNM 4713 85% . SYNPO 3486 82% . SYNPO2 3918 98% . SYNPO2L 3054 93% . SYNPR 910 90% . SYNRG 4282 97% . SYP 1096 92% SYP‐Related X‐linked Mental Retardation SYPL1 804 95% . SYPL2 843 84% . SYS1 488 90% . SYT1 1301 100% . SYT10 1600 100% . SYT11 1312 100% . SYT12 1294 100% . SYT13 1305 100% . SYT14 1886 93% . SYT15 1719 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:548

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

SYT16 1962 100% . SYT17 1462 99% . SYT2 1292 100% . SYT3 1805 98% . SYT4 1294 100% . SYT5 1193 99% . SYT6 1562 94% . SYT7 1249 89% . SYT8 1398 98% . SYT9 1504 91% . SYTL1 2029 75% . SYTL2 6883 100% . SYTL3 1893 100% . SYTL4 2125 100% . SYTL5 2327 97% . SYVN1 2043 100% . SZT2 8348 100% . T 1340 100% . TAAR1 1024 100% . TAAR2 1064 100% . TAAR5 1018 100% . TAAR6 1042 100% TAAR8 1033 100% . TAAR9 1046 100% . TAB1 1645 99% . TAB2 2106 100% . TAB3 2167 100% . TAC1 414 100% . TAC3 386 100% . TAC4 401 100% . TACC1 2519 95% . TACC2 9249 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:549

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TACC3 2603 96% . TACO1 914 92% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) TACR1 1248 100% . TACR2 1218 100% . TACR3 1418 100% Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency TACR3 1418 100% TACR3‐Related Isolated Gonadotropin‐Releasing Hormone (GnRH) Deficiency TACSTD2 976 81% Corneal Dystrophy, Gelatinous Drop‐Like TADA1 1040 100% . TADA2A 1487 100% . TADA2B 1271 95% . TADA3 1335 100% . TAF1 5859 100% X‐Linked Dystonia‐Parkinsonism Syndrome TAF10 677 75% . TAF11 656 100% . TAF12 506 100% . TAF13 391 100% . TAF15 1843 100% . TAF1A 1393 100% . TAF1B 1827 99% . TAF1C 2662 97% . TAF1D 857 100% . TAF1L 5485 100% . TAF2 3704 100% . TAF3 2818 99% . TAF4 3318 63% . TAF4B 2664 98% . TAF5 2447 92% . TAF5L 1905 100% . TAF6 2448 100% . TAF6L 1909 91% . TAF7 1054 100% . TAF7L 1441 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:550

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TAF8 1013 96% . TAF9 1361 99% . TAF9B 784 100% . TAGAP 2250 100% . TAGLN 680 100% . TAGLN2 644 100% . TAGLN3 785 97% . TAL1 1014 76% . TAL2 331 100% . TALDO1 1046 100% Transaldolase Deficiency TAMM41 1000 100% . TANC1 5686 100% . TANC2 6160 100% . TANK 1391 100% . TAOK1 3082 100% . TAOK2 4698 99% . TAOK3 2773 100% . TAP1 2548 96% . TAP2 2223 96% . TAPBP 1656 98% . TAPBPL 1435 98% . TAPT1 2100 90% . TARBP1 4986 88% . TARBP2 1137 87% . TARDBP 1265 100% Amyotrophic Lateral Sclerosis TARDBP 1265 100% TARDBP‐Related Amyotrophic Lateral Sclerosis TARDBP 1265 100% TARDBP‐Related Frontotemporal Dementia TARM1 836 1% . TARP 533 100% . TARS 2248 100% . TARS2 2379 100% . TARSL2 2485 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:551

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TAS1R1 2550 100% . TAS1R2 2544 100% . TAS1R3 2583 100% . TAS2R1 904 100% . TAS2R10 928 100% . TAS2R13 916 100% . TAS2R14 958 100% . TAS2R16 880 100% . TAS2R19 904 100% . TAS2R20 934 100% . TAS2R3 955 100% . TAS2R30 40 100% . TAS2R31 1 0% . TAS2R38 1006 100% . TAS2R39 1021 100% . TAS2R4 904 100% . TAS2R40 976 100% . TAS2R41 928 100% . TAS2R42 949 100% . TAS2R43 406 99% . TAS2R46 463 100% . TAS2R5 904 100% . TAS2R50 904 100% . TAS2R60 961 100% . TAS2R7 961 100% . TAS2R8 934 100% . TAS2R9 943 100% . TASP1 1315 100% . TAT 1409 97% Tyrosinemia Type II TATDN1 942 100% . TATDN2 2310 100% . TATDN3 865 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:552

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TAX1BP1 2434 100% . TAX1BP3 391 100% . TAZ 1094 97% 3‐Methylglutaconic Aciduria Type 2 TAZ 1094 97% Dilated Cardiomyopathy TAZ 1094 97% Endocardial Fibroelastosis TAZ 1094 97% Familial Isolated Noncompaction of Left Ventricular Myocardium TAZ 1094 97% TAZ‐Related Dilated Cardiomyopathy TBC1D1 3874 100% . TBC1D10A 1584 100% . TBC1D10B 2464 82% . TBC1D10C 1377 80% . TBC1D12 2380 82% . TBC1D13 1251 99% . TBC1D14 2141 100% . TBC1D15 2219 97% . TBC1D16 2348 97% . TBC1D17 2015 94% . TBC1D19 1665 100% . TBC1D2 2839 100% . TBC1D20 1244 94% . TBC1D21 1055 100% . TBC1D22A 1606 96% . TBC1D22B 1570 99% . TBC1D23 2200 100% . TBC1D24 1708 98% . TBC1D25 2139 94% . TBC1D26 876 91% . TBC1D28 661 88% . TBC1D29 473 100% . TBC1D2B 2944 91% . TBC1D3 3404 19% . TBC1D30 2334 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:553

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TBC1D3B 1702 40% . TBC1D3C 1702 26% . TBC1D3F 3404 19% . TBC1D3G 1702 32% . TBC1D3H 1702 4% . TBC1D4 3984 100% . TBC1D5 2569 100% . TBC1D7 910 100% . TBC1D8 3503 96% . TBC1D8B 3579 100% . TBC1D9 3885 100% . TBC1D9B 4160 93% . TBCA 487 92% . TBCB 857 85% . TBCC 1045 100% . TBCCD1 1698 100% . TBCD 3791 95% . TBCE 1648 100% . TBCEL 1303 100% . TBCK 2782 99% . TBK1 2270 100% . TBKBP1 1884 67% . TBL1X 1794 95% . TBL1XR1 1601 100% . TBL1Y 1625 100% . TBL2 1372 100% . TBL3 2515 97% . TBP 1048 100% Spinocerebellar Ataxia Type17 TBPL1 596 100% . TBPL2 1156 100% . TBR1 2073 87% . TBRG1 1272 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:554

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TBRG4 2008 100% . TBX1 1826 77% 22q11.2 Deletion Syndrome TBX10 1190 99% . TBX15 1636 100% . TBX18 1856 97% . TBX19 1479 100% ACTH Deficiency TBX2 2167 79% . TBX20 1376 100% . TBX21 1632 82% . TBX22 1595 100% Cleft Palate, X‐Linked TBX3 2339 81% Ulnar‐Mammary Syndrome TBX4 1673 91% Small Patella Syndrome TBX5 1657 100% TBX5‐Related Holt‐Oram Syndrome TBX6 1392 98% . TBXA2R 1422 87% . TBXAS1 1803 100% . TC2N 1517 100% . TCAP 512 100% Dilated Cardiomyopathy TCAP 512 100% Familial Hypertrophic Cardiomyopathy TCAP 512 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive TCAP 512 100% TCAP‐Related Dilated Cardiomyopathy TCAP 512 100% TCAP‐Related Familial Hypertrophic Cardiomyopathy TCAP 512 100% Telethoninopathy TCEA1 946 100% . TCEA2 940 92% . TCEA3 1093 100% . TCEAL1 484 99% . TCEAL2 688 100% . TCEAL3 607 100% . TCEAL4 679 100% . TCEAL5 625 100% . TCEAL6 556 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:555

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TCEAL7 307 100% . TCEAL8 358 100% . TCEANC 1154 93% . TCEANC2 733 100% . TCEB1 351 100% . TCEB2 510 97% . TCEB3 2441 93% . TCEB3B 2266 100% . TCEB3C 3290 41% . TCEB3CL 3291 41% . TCERG1 3385 100% . TCERG1L 1809 79% . TCF12 2270 100% . TCF15 608 47% . TCF19 1068 98% . TCF20 5928 100% . TCF21 548 100% . TCF23 657 88% . TCF24 437 9% . TCF25 2103 100% . TCF3 2429 85% . TCF4 2479 94% Pitt‐Hopkins Syndrome TCF7 1629 84% . TCF7L1 1815 88% . TCF7L2 2135 99% . TCFL5 1527 83% . TCHH 5840 98% . TCHHL1 2723 100% . TCHP 1545 100% . TCIRG1 2569 82% TCIRG1‐Related Autosomal Recessive Osteopetrosis TCL1A 357 100% . TCL1B 399 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:556

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TCN1 1338 100% . TCN2 1371 100% Transcobalamin II Deficiency TCOF1 4738 97% Treacher Collins Syndrome TCP1 1719 100% . TCP10 1118 85% . TCP10L 664 100% . TCP10L2 1090 95% . TCP11 1742 93% . TCP11L1 1566 100% . TCP11L2 1596 100% . TCTA 324 100% . TCTE1 1806 95% . TCTE3 613 100% . TCTEX1D1 556 100% . TCTEX1D2 453 100% . TCTEX1D4 670 57% . TCTN1 2009 96% . TCTN2 2166 100% . TCTN3 2063 100% . TDG 1351 100% . TDGF1 591 100% . TDO2 1269 100% . TDP1 1887 100% Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive TDP2 1117 100% . TDRD1 3675 100% . TDRD10 1182 100% . TDRD12 1240 98% . TDRD3 2242 93% . TDRD5 3176 100% . TDRD6 6321 96% . TDRD7 3361 100% . TDRD9 4293 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:557

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TDRKH 1734 100% . TEAD1 1280 100% . TEAD2 1388 100% . TEAD3 1404 100% . TEAD4 1349 100% . TEC 1966 100% . TECPR1 3639 97% . TECPR2 4312 100% . TECR 979 100% . TECRL 1142 100% . TECTA 6560 100% DFNA 8/12 Nonsyndromic Hearing Loss and Deafness TECTA 6560 100% DFNB21 Nonsyndromic Hearing Loss and Deafness TECTA 6560 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant TECTA 6560 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TECTB 1030 100% . TEDDM1 826 100% . TEF 1014 80% . TEFM 1099 100% . TEK 3477 100% Multiple Cutaneous and Mucosal Venous Malformations TEKT1 1285 100% . TEKT2 1329 100% . TEKT3 1501 100% . TEKT4 1332 98% . TEKT5 1486 100% . TELO2 2594 95% . TEN1 384 98% . TENC1 4545 100% . TEP1 8100 100% . TEPP 929 99% . TERF1 1542 99% . TERF2 1543 99% . TERF2IP 1212 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:558

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TERT 3463 82% Aplastic Anemia, TERT‐Related TERT 3463 82% Dyskeratosis Congenita TERT 3463 82% Familial Pulmonary Fibrosis TERT 3463 82% TERT‐Related Dyskeratosis Congenita TERT 3463 82% TERT‐Related Familial Pulmonary Fibrosis TERT 3463 82% TERT‐Related Idiopathic Pulmonary Fibrosis TES 1435 98% . TESC 836 57% . TESK1 1921 96% . TESK2 1756 100% . TET1 6455 100% . TET2 6184 98% . TET3 5064 100% . TEX10 2847 100% . TEX101 831 100% . TEX11 2980 97% . TEX12 388 100% . TEX13A 1240 100% . TEX13B 947 100% . TEX14 4622 100% . TEX15 8386 100% . TEX19 499 100% . TEX2 3449 100% . TEX22 465 69% . TEX261 615 100% . TEX264 959 100% . TEX28 1249 0% . TEX9 1224 100% . TF 2250 99% Atransferrinemia TFAM 889 94% . TFAP2A 1416 98% Branchiooculofacial Syndrome TFAP2B 1411 99% Char Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:559

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TFAP2C 1381 98% . TFAP2D 1391 100% . TFAP2E 1357 71% . TFAP4 1350 99% . TFB1M 1069 100% . TFB2M 1223 100% . TFCP2 1569 100% . TFCP2L1 1500 100% . TFDP1 1279 100% . TFDP2 1469 97% . TFDP3 1222 100% . TFE3 1866 97% . TFEB 1725 88% . TFEC 1236 94% . TFF1 267 99% . TFF2 406 98% . TFF3 576 100% . TFG 1231 100% . TFIP11 2605 100% . TFPI 1115 100% . TFPI2 728 100% . TFPT 786 100% . TFR2 2479 89% TFR2‐Related Hereditary Hemochromatosis TFRC 2355 100% . TG 8499 100% Thyroid Dyshormonogenesis 3 TGDS 1101 100% . TGFA 507 91% . TGFB1 1201 84% Camurati‐Engelmann Disease TGFB1I1 1430 100% . TGFB2 1361 100% . TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1 TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:560

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TGFBI 2170 94% Avellino Corneal Dystrophy TGFBI 2170 94% Corneal Dystrophy of Bowman Layer, Type 1 TGFBI 2170 94% Lattice Corneal Dystrophy Type I TGFBI 2170 94% Lattice Corneal Dystrophy Type IIIa TGFBR1 1548 93% Furlong Syndrome TGFBR1 1548 93% Loeys‐Dietz Syndrome TGFBR1 1548 93% TGFBR1‐Related Loeys‐Dietz Syndrome TGFBR1 1548 93% TGFBR1‐Related Thoracic Aortic Aneurysms and Aortic Dissections TGFBR1 1548 93% Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2 1812 98% Loeys‐Dietz Syndrome TGFBR2 1812 98% TGFBR2‐Related Loeys‐Dietz Syndrome TGFBR2 1812 98% TGFBR2‐Related Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2 1812 98% Thoracic Aortic Aneurysms and Aortic Dissections TGFBR3 2620 99% . TGFBRAP1 2627 100% . TGIF1 1300 99% Holoprosencephaly TGIF1 1300 99% TGIF1‐Related Holoprosencephaly TGIF2 722 100% . TGIF2‐C20ORF24 684 100% . TGIF2LX 730 100% . TGIF2LY 562 100% . TGM1 2510 99% Autosomal Recessive Congenital Ichthyosis TGM1 2510 99% TGM1‐Related Autosomal Recessive Congenital Ichthyosis TGM2 2116 99% . TGM3 2134 99% . TGM4 2111 100% . TGM5 2215 100% . TGM6 2173 100% . TGM7 2186 100% . TGOLN2 1455 100% . TGS1 2614 100% . TH 1643 91% Dopa‐Responsive Dystonia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:561

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TH 1643 91% Hydroxylase Deficiency TH 1643 91% Tyrosine Hydroxylase‐Deficient Dopa‐Responsive Dystonia TH1L 1833 96% . THADA 6330 100% . THAP1 654 100% Dystonia 6 THAP10 786 99% . THAP11 949 90% . THAP2 699 100% . THAP3 834 92% . THAP4 1847 99% . THAP5 1200 100% . THAP6 730 100% . THAP7 946 79% . THAP8 841 80% . THAP9 2742 100% . THBD 1732 78% Atypical Hemolytic‐Uremic Syndrome THBD 1732 78% THBD‐Related Atypical Hemolytic‐Uremic Syndrome THBS1 3597 100% . THBS2 3603 99% . THBS3 2963 100% . THBS4 2974 97% . THEG 1172 100% . THEG5 2 0% . THEM4 747 86% . THEM5 988 96% . THEMIS 1951 100% . THG1L 921 100% . THNSL1 2236 100% . THNSL2 1632 100% . THOC1 2058 100% . THOC2 5037 100% . THOC3 1172 84% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:562

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

THOC5 2131 100% . THOC6 1078 100% . THOC7 650 96% . THOP1 2122 98% . THPO 1082 100% . THRA 1632 100% . THRAP3 2908 100% . THRB 1418 100% Thyroid Hormone Resistance THRSP 445 100% . THSD1 2575 100% . THSD4 3289 89% . THSD7A 5082 100% . THSD7B 4787 100% . THTPA 701 100% . THUMPD1 1336 76% . THUMPD2 1552 92% . THUMPD3 1564 100% . THY1 498 100% . THYN1 706 100% . TIA1 1287 100% . TIAF1 352 100% . TIAL1 1285 100% . TIAM1 4876 100% . TIAM2 5202 100% . TICAM1 2143 100% . TICAM2 712 100% . TIE1 3572 96% . TIFA 559 100% . TIFAB 490 100% . TIGD1 1780 0% . TIGD2 1582 100% . TIGD3 1420 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:563

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TIGD4 1543 100% . TIGD5 1933 70% . TIGD6 1570 100% . TIGD7 1654 100% . TIGIT 952 100% . TIMD4 1173 100% . TIMELESS 3739 100% . TIMM10 281 100% . TIMM13 300 98% . TIMM17A 540 100% . TIMM17B 544 99% . TIMM21 771 100% . TIMM22 601 100% . TIMM23 658 40% . TIMM44 1411 98% . TIMM50 1415 99% . TIMM8A 303 100% Deafness‐Dystonia‐Optic Neuronopathy Syndrome TIMM8B 305 100% . TIMM9 282 100% . TIMMDC1 890 100% . TIMP1 1210 82% . TIMP2 683 80% . TIMP3 688 94% Pseudoinflammatory Fundus Dystrophy TIMP4 695 100% . TINAG 1523 100% . TINAGL1 1448 96% . TINF2 1396 100% Dyskeratosis Congenita TINF2 1396 100% Revesz Syndrome TINF2 1396 100% TINF2‐Related Dyskeratosis Congenita TIPARP 1994 100% . TIPIN 934 100% . TIPRL 872 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:564

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TIRAP 845 100% . TJAP1 2003 100% . TJP1 5419 99% . TJP2 3802 98% . TJP3 2939 100% . TK1 733 100% . TK2 999 96% Mitochondrial DNA Depletion Syndrome, Myopathic Form TK2 999 96% TK2‐Related Mitochondrial DNA Depletion Syndrome, Myopathic Form TKT 1935 100% . TKTL1 1843 100% . TKTL2 1885 100% . TLCD1 817 99% . TLCD2 811 62% . TLE1 2449 100% . TLE2 2382 97% . TLE3 2441 100% . TLE4 2467 100% . TLE6 1805 97% . TLK1 2431 100% . TLK2 2337 100% . TLL1 3183 99% . TLL2 3132 100% . TLN1 7850 100% . TLN2 7898 100% . TLR1 2365 100% . TLR10 2440 100% . TLR2 2359 100% . TLR3 2731 100% . TLR4 2532 100% . TLR5 2581 100% . TLR6 2395 100% . TLR7 3158 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:565

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TLR8 3134 100% . TLR9 3107 100% . TLX1 1006 91% . TLX1NB 1 0% . TLX2 867 82% . TLX3 888 94% . TM2D1 854 100% . TM2D2 759 100% . TM2D3 824 100% . TM4SF1 792 100% . TM4SF18 626 100% . TM4SF19 749 100% . TM4SF20 706 100% . TM4SF4 629 100% . TM4SF5 614 100% . TM6SF1 1166 100% . TM6SF2 1411 93% . TM7SF2 1297 81% . TM7SF3 1761 98% . TM7SF4 1425 100% . TM9SF1 1884 100% . TM9SF2 2060 100% . TM9SF3 1830 94% . TM9SF4 2001 100% . TMBIM1 980 96% . TMBIM4 745 87% . TMBIM6 928 100% . TMC1 2481 100% DFNA36 Nonsyndromic Hearing Loss and Deafness TMC1 2481 100% DFNB 7/11 Nonsyndromic Hearing Loss and Deafness TMC1 2481 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant TMC1 2481 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMC2 3168 96% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:566

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMC3 3400 100% . TMC4 2264 95% . TMC5 3449 100% . TMC6 2635 88% . TMC7 2236 97% . TMC8 2313 88% . TMCC1 1979 100% . TMCC2 2150 100% . TMCC3 1450 94% . TMCO1 597 100% . TMCO2 557 100% . TMCO3 2086 100% . TMCO4 1957 100% . TMCO5A 907 100% . TMCO6 1673 95% . TMCO7 3357 100% . TMED1 700 98% . TMED10 680 100% . TMED2 622 100% . TMED3 666 99% . TMED4 731 83% . TMED5 777 100% . TMED6 739 100% . TMED7 687 100% . TMED7‐TICAM2 1404 100% . TMED8 1002 88% . TMED9 728 98% . TMEFF1 1183 84% . TMEFF2 1254 100% . TMEM100 409 100% . TMEM101 790 92% . TMEM102 1535 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:567

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM104 1527 100% . TMEM105 398 100% . TMEM106A 817 100% . TMEM106B 853 100% . TMEM106C 781 100% . TMEM107 755 100% . TMEM108 1787 100% . TMEM109 744 100% . TMEM11 587 100% . TMEM110 918 84% . TMEM110‐MUSTN1 1166 87% . TMEM111 822 100% . TMEM114 377 0% . TMEM115 1064 96% . TMEM116 1021 100% . TMEM117 1573 100% . TMEM119 856 99% . TMEM120A 12 0% . TMEM120B 1068 100% . TMEM121 964 58% . TMEM123 647 99% . TMEM125 1 0% . TMEM126A 604 100% Optic Atrophy 7 TMEM126B 740 100% . TMEM127 729 90% TMEM127‐Related Pheochromocytoma TMEM128 442 100% . TMEM129 1105 48% . TMEM130 1340 93% . TMEM131 5820 97% . TMEM132A 3119 98% . TMEM132B 3360 100% . TMEM132C 3276 86% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:568

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM132D 3393 98% . TMEM132E 2995 99% . TMEM133 394 100% . TMEM134 783 52% . TMEM135 1437 100% . TMEM136 812 100% . TMEM138 663 100% . TMEM139 659 100% . TMEM140 562 100% . TMEM141 347 96% . TMEM143 1412 98% . TMEM144 1210 100% . TMEM145 1584 92% . TMEM146 2485 100% . TMEM147 707 100% . TMEM14A 316 100% . TMEM14B 480 100% . TMEM14C 359 100% . TMEM14E 382 100% . TMEM150A 960 100% . TMEM150B 726 100% . TMEM150C 778 100% . TMEM151A 1415 78% . TMEM151B 1713 43% . TMEM154 580 100% . TMEM155 405 98% . TMEM156 918 100% . TMEM158 907 33% . TMEM159 502 100% . TMEM160 579 41% . TMEM161A 1488 92% . TMEM161B 1520 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:569

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM163 902 77% . TMEM164 918 100% . TMEM165 999 81% . TMEM167A 235 100% . TMEM167B 239 98% . TMEM168 2110 100% . TMEM169 902 100% . TMEM17 613 100% . TMEM170A 447 99% . TMEM170B 411 77% . TMEM171 987 100% . TMEM173 1168 100% . TMEM174 745 100% . TMEM175 1556 100% . TMEM176A 744 100% . TMEM176B 837 100% . TMEM177 940 100% . TMEM178 910 92% . TMEM179 606 95% . TMEM179B 680 93% . TMEM18 443 100% . TMEM180 1586 100% . TMEM181 1909 90% . TMEM182 710 100% . TMEM183A 1163 97% . TMEM183B 1163 97% . TMEM184A 1274 99% . TMEM184B 1256 100% . TMEM184C 1357 100% . TMEM185A 1081 47% . TMEM185B 1 0% . TMEM186 650 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:570

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM187 790 100% . TMEM188 457 94% . TMEM189 837 85% . TMEM189‐UBE2V1 1145 89% . TMEM19 1085 100% . TMEM190 554 89% . TMEM191B 9 0% . TMEM191C 9 0% . TMEM192 840 100% . TMEM194A 1371 100% . TMEM194B 1290 92% . TMEM196 535 94% . TMEM198 1099 100% . TMEM199 651 100% . TMEM2 4282 100% . TMEM200A 1480 100% . TMEM200B 1 0% . TMEM200C 1870 58% . TMEM201 2064 92% . TMEM202 842 100% . TMEM203 415 100% . TMEM204 693 100% . TMEM205 582 100% . TMEM206 1086 100% . TMEM207 461 100% . TMEM208 578 100% . TMEM209 1746 100% . TMEM211 410 100% . TMEM212 601 100% . TMEM213 489 95% . TMEM214 2254 93% . TMEM215 712 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:571

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM216 278 99% Meckel Syndrome TMEM216 278 99% TMEM216‐Related Joubert Syndrome TMEM217 698 100% . TMEM218 360 100% . TMEM219 739 100% . TMEM22 1243 100% . TMEM220 507 85% . TMEM221 702 52% . TMEM222 655 95% . TMEM223 617 93% . TMEM225 694 100% . TMEM229A 1147 70% . TMEM229B 508 100% . TMEM231 1072 99% . TMEM232 2079 57% . TMEM233 342 0% . TMEM234 658 100% . TMEM235 1340 29% . TMEM236 2179 6% . TMEM237 1434 97% . TMEM238 535 0% . TMEM239 546 88% . TMEM240 538 68% . TMEM241 951 100% . TMEM242 502 100% . TMEM25 1166 91% . TMEM26 1131 100% . TMEM27 693 100% . TMEM30A 1114 100% . TMEM30B 1060 84% . TMEM31 589 100% . TMEM33 772 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:572

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM35 512 100% . TMEM37 581 96% . TMEM38A 924 100% . TMEM38B 900 100% . TMEM39A 1499 100% . TMEM39B 1653 98% . TMEM40 762 100% . TMEM41A 815 100% . TMEM41B 911 97% . TMEM42 492 61% . TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant TMEM44 1548 77% . TMEM45A 851 100% . TMEM45B 848 100% . TMEM47 558 80% . TMEM48 2097 97% . TMEM5 1356 100% . TMEM50A 498 100% . TMEM50B 501 100% . TMEM51 770 100% . TMEM52 864 73% . TMEM53 846 100% . TMEM54 693 98% . TMEM55A 802 100% . TMEM55B 883 88% . TMEM56 816 100% . TMEM56‐RWDD3 1001 100% . TMEM57 2039 100% . TMEM59 1063 100% . TMEM59L 1061 85% . TMEM60 406 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:573

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM61 645 99% . TMEM62 1988 91% . TMEM63A 2512 100% . TMEM63B 2654 100% . TMEM63C 2509 100% . TMEM64 1155 74% . TMEM65 751 73% . TMEM66 1044 93% . TMEM67 3238 100% Joubert Syndrome TMEM67 3238 100% Meckel Syndrome TMEM67 3238 100% TMEM67‐Related Joubert Syndrome TMEM67 3238 100% TMEM67‐Related Meckel Syndrome TMEM68 790 100% . TMEM69 752 100% . TMEM70 803 98% Nuclear‐Encoded ATPase Deficiency, TMEM70‐Related TMEM71 924 100% . TMEM72 848 93% . TMEM74 922 100% . TMEM74B 779 100% . TMEM79 1256 100% . TMEM80 671 68% . TMEM81 772 100% . TMEM82 1056 97% . TMEM85 841 89% . TMEM86A 735 97% . TMEM86B 693 86% . TMEM87A 1794 100% . TMEM87B 1744 99% . TMEM88 488 100% . TMEM88B 2 0% . TMEM89 488 100% . TMEM8A 2437 93% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:574

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMEM8B 1696 99% . TMEM8C 686 100% . TMEM9 668 100% . TMEM91 626 100% . TMEM92 500 100% . TMEM93 337 99% . TMEM95 672 100% . TMEM97 543 100% . TMEM98 705 100% . TMEM99 781 100% . TMEM9B 617 92% . TMF1 3359 100% . TMIE 487 81% DFNB 6 Nonsyndromic Hearing Loss and Deafness TMIE 487 81% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMIGD1 813 100% . TMIGD2 869 98% . TMLHE 1434 78% . TMOD1 1116 100% . TMOD2 1092 100% . TMOD3 1095 100% . TMOD4 1074 100% . TMPO 3024 99% Dilated Cardiomyopathy TMPO 3024 99% TMPO‐Related Dilated Cardiomyopathy TMPPE 1366 100% . TMPRSS11A 1306 100% . TMPRSS11B 1291 100% . TMPRSS11BNL 334 1% . TMPRSS11D 1297 100% . TMPRSS11E 1322 99% . TMPRSS11F 1357 100% . TMPRSS12 1068 100% . TMPRSS13 1859 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:575

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TMPRSS15 3160 99% . TMPRSS2 1532 100% . TMPRSS3 1547 100% DFNB 8/10 Nonsyndromic Hearing Loss and Deafness TMPRSS3 1547 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMPRSS4 1366 100% . TMPRSS5 1426 100% . TMPRSS6 2694 93% Iron‐Refractory Iron Deficiency Anemia TMPRSS7 2258 100% . TMPRSS9 3305 95% . TMSB10 143 100% . TMSB15A 146 100% . TMSB15B 2 0% . TMSB4X 159 100% . TMSB4Y 143 100% . TMTC1 2472 100% . TMTC2 2559 100% . TMTC3 2797 100% . TMTC4 2355 100% . TMUB1 749 100% . TMUB2 915 100% . TMX1 875 100% . TMX2 1152 100% . TMX3 1467 98% . TMX4 1082 83% . TNC 6714 100% . TNF 745 96% . TNFAIP1 975 100% . TNFAIP2 2009 74% . TNFAIP3 2405 100% . TNFAIP6 858 100% . TNFAIP8 610 99% . TNFAIP8L1 565 69% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:576

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TNFAIP8L2 559 100% . TNFAIP8L2‐SCNM1 666 100% . TNFAIP8L3 891 85% . TNFRSF10A 1447 98% . TNFRSF10B 1359 100% . TNFRSF10C 1208 96% . TNFRSF10D 1197 100% . TNFRSF11A 1957 90% Paget Disease of Bone TNFRSF11A 1957 90% TNFRSF11A‐ Related Autosomal Recessive Osteopetrosis TNFRSF11B 1226 99% Paget Disease, Juvenile TNFRSF12A 406 98% . TNFRSF13B 902 100% Common Variable Immune Deficiency TNFRSF13C 567 68% Common Variable Immune Deficiency TNFRSF14 936 94% . TNFRSF17 567 100% . TNFRSF18 999 82% . TNFRSF19 1317 100% . TNFRSF1A 1408 100% Autosomal Dominant Familial Periodic Fever TNFRSF1B 1426 93% . TNFRSF21 1992 96% . TNFRSF25 1324 98% . TNFRSF4 862 89% . TNFRSF6B 923 98% . TNFRSF8 1848 94% . TNFRSF9 796 100% . TNFSF10 923 100% . TNFSF11 974 100% TNFSF11‐Related Autosomal Recessive Osteopetrosis TNFSF12 778 76% . TNFSF12‐TNFSF13 1037 82% . TNFSF13 788 100% . TNFSF13B 882 100% . TNFSF14 739 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:577

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TNFSF15 918 100% . TNFSF18 612 100% . TNFSF4 564 100% . TNFSF8 722 100% . TNFSF9 777 97% . TNIK 4215 100% . TNIP1 1980 100% . TNIP2 1314 86% . TNIP3 1265 82% . TNK1 2034 93% . TNK2 3424 98% . TNKS 4203 100% . TNKS1BP1 5292 100% . TNKS2 3609 96% . TNMD 982 100% . TNN 3972 100% . TNNC1 510 100% Familial Hypertrophic Cardiomyopathy TNNC1 510 100% TNNC1‐Related Dilated Cardiomyopathy TNNC1 510 100% TNNC1‐Related Familial Hypertrophic Cardiomyopathy TNNC2 507 100% . TNNI1 588 100% . TNNI2 585 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNI2 585 100% TNNI2‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNI3 648 97% Familial Hypertrophic Cardiomyopathy TNNI3 648 97% Familial Hypertrophic Cardiomyopathy with Wolff‐Parkinson‐White Syndrome, TNNI3‐Related TNNI3 648 97% Familial Restrictive Cardiomyopathy TNNI3 648 97% TNNI3‐Related Dilated Cardiomyopathy TNNI3 648 97% TNNI3‐Related Familial Hypertrophic Cardiomyopathy TNNI3 648 97% TNNI3‐Related Familial Restrictive Cardiomyopathy TNNI3K 2627 100% . TNNT1 921 93% Nemaline Myopathy TNNT1 921 93% TNNT1‐Related Nemaline Myopathy UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:578

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TNNT2 964 100% Dilated Cardiomyopathy TNNT2 964 100% Familial Hypertrophic Cardiomyopathy TNNT2 964 100% Familial Restrictive Cardiomyopathy TNNT2 964 100% Left Ventricular Noncompaction 6 TNNT2 964 100% TNNT2‐Related Dilated Cardiomyopathy TNNT2 964 100% TNNT2‐Related Familial Hypertrophic Cardiomyopathy TNNT2 964 100% TNNT2‐Related Familial Restrictive Cardiomyopathy TNNT3 927 99% Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNT3 927 99% TNNT3‐Related Arthrogryposis Multiplex Congenita, Distal, Type 2B TNP1 176 100% . TNP2 425 100% . TNPO1 2793 99% . TNPO2 2786 100% . TNPO3 2997 100% . TNR 4161 100% . TNRC18 9155 82% . TNRC6A 6144 100% . TNRC6B 5723 97% . TNRC6C 5266 98% . TNS1 5327 100% . TNS3 4468 100% . TNS4 2276 100% . TNXB 13252 89% Ehlers‐Danlos Syndrome, Hypermobility Type TOB1 1042 100% . TOB2 1039 100% . TOE1 1599 100% . TOLLIP 942 86% . TOM1 1571 98% . TOM1L1 1491 100% . TOM1L2 1584 100% . TOMM20 458 100% . TOMM20L 479 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:579

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TOMM22 445 100% . TOMM34 958 94% . TOMM40 1122 77% . TOMM40L 963 100% . TOMM5 322 100% . TOMM6 233 100% . TOMM7 253 100% . TOMM70A 1875 94% . TONSL 4247 88% . TOP1 2382 100% . TOP1MT 2208 97% . TOP2A 4771 100% . TOP2B 5025 99% . TOP3A 3082 100% . TOP3B 2880 89% . TOPBP1 4677 100% . TOPORS 3150 100% Retinitis Pigmentosa, Autosomal Dominant TOPORS 3150 100% TOPORS‐Related Retinitis Pigmentosa TOR1A 1115 92% Early‐Onset Primary Dystonia (DYT1) TOR1AIP1 1799 99% . TOR1AIP2 1430 100% . TOR1B 1031 100% . TOR2A 1155 85% . TOR3A 1267 96% . TOX 1617 100% . TOX2 1937 95% . TOX3 1760 99% . TOX4 1930 100% . TP53 1350 100% Li‐Fraumeni Syndrome TP53AIP1 574 100% . TP53BP1 6054 100% . TP53BP2 3478 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:580

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TP53I11 625 94% . TP53I13 1210 89% . TP53I3 1066 100% . TP53INP1 761 100% . TP53INP2 675 99% . TP53RK 775 79% . TP53TG3 1149 0% . TP53TG3B 1300 0% . TP53TG3C 1300 0% . TP53TG5 893 100% . TP63 2264 100% ADULT Syndrome TP63 2264 100% Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate TP63 2264 100% Cleft Lip +/‐ Cleft Palate TP63 2264 100% Ectrodactyly TP63 2264 100% Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome TP63 2264 100% Limb‐Mammary Syndrome TP63 2264 100% Split‐Hand/Foot Malformation, Type 4 TP63 2264 100% TP63‐Related Disorders TP73 2006 96% . TPBG 1267 98% . TPCN1 2930 96% . TPCN2 2359 94% . TPD52 811 100% . TPD52L1 650 98% . TPD52L2 726 97% . TPD52L3 511 100% . TPGS1 881 39% . TPGS2 958 100% . TPH1 1375 100% . TPH2 1535 100% Hydroxylase Deficiency TPI1 889 100% Triosephosphate Isomerase Deficiency TPK1 764 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:581

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TPM1 1410 83% Dilated Cardiomyopathy TPM1 1410 83% Familial Hypertrophic Cardiomyopathy TPM1 1410 83% TPM1‐Related Dilated Cardiomyopathy TPM1 1410 83% TPM1‐Related Familial Hypertrophic Cardiomyopathy TPM2 1310 98% Arthrogryposis Multiplex Congenita, Distal, Type 1 TPM2 1310 98% Nemaline Myopathy TPM2 1310 98% TPM2‐Related Nemaline Myopathy TPM3 1285 100% Nemaline Myopathy TPM3 1285 100% TPM3‐Related Congenital Fiber‐Type Disproportion TPM3 1285 100% TPM3‐Related Nemaline Myopathy TPM4 1027 87% . TPMT 770 100% . TPO 3176 94% Congenital Hypothyroidism TPO 3176 94% Congenital Hypothyroidism, TPO‐Related TPP1 1860 100% Neuronal Ceroid‐Lipofuscinoses TPP1 1860 100% Neuronal Ceroid‐Lipofuscinosis, Classic Late Infantile TPP1 1860 100% Neuronal Ceroid‐Lipofuscinosis, Juvenile TPP1 1860 100% TPP1‐Related Neuronal Ceroid‐Lipofuscinosis TPP2 3866 100% . TPPP 672 100% . TPPP2 525 100% . TPPP3 543 100% . TPR 7454 100% . TPRA1 1165 100% . TPRG1 848 100% . TPRG1L 839 74% . TPRKB 544 100% . TPRN 2232 62% . TPRX1 1244 69% . TPSAB1 869 80% . TPSB2 849 58% . TPSD1 752 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:582

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TPSG1 990 93% . TPST1 1129 100% . TPST2 1375 99% . TPT1 954 78% . TPTE 1742 100% . TPTE2 1653 100% . TPX2 2308 100% . TRA2A 881 98% . TRA2B 910 100% . TRABD 1167 96% . TRADD 955 95% . TRAF1 1279 100% . TRAF2 1702 100% . TRAF3 1747 100% . TRAF3IP1 2181 92% . TRAF3IP2 1738 100% . TRAF3IP3 1844 100% . TRAF4 1462 100% . TRAF5 1747 100% . TRAF6 1593 100% . TRAF7 2093 96% . TRAFD1 1793 100% . TRAIP 1509 100% . TRAK1 3463 100% . TRAK2 2841 100% . TRAM1 1169 100% . TRAM1L1 1114 100% . TRAM2 1157 100% . TRANK1 8846 100% . TRAP1 2187 96% . TRAPPC1 454 100% . TRAPPC10 3872 98% TRAPPC10‐Related Holoprosencephaly UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:583

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRAPPC11 3543 100% . TRAPPC12 2339 98% . TRAPPC2 493 100% Spondyloepiphyseal Dysplasia Tarda, X‐Linked TRAPPC2L 465 99% . TRAPPC3 563 100% . TRAPPC4 739 100% . TRAPPC5 571 88% . TRAPPC6A 546 97% . TRAPPC6B 501 100% . TRAPPC8 4424 100% . TRAPPC9 3881 95% Mental Retardation, Autosomal Recessive 13 TRAT1 585 100% . TRDMT1 1279 95% . TRDN 2396 97% . TREH 1904 98% . TREM1 721 100% . TREM2 897 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TREM2 897 100% TREM2‐Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TREML1 960 100% . TREML2 1163 100% . TREML4 623 100% . TRERF1 3695 100% . TREX1 1114 100% Aicardi‐Goutieres Syndrome TREX1 1114 100% Retinal Vasculopathy with Cerebral Leukodystrophy TREX1 1114 100% TREX1‐Related Aicardi‐Goutieres Syndrome TREX2 749 84% . TRH 737 100% . TRHDE 3151 100% . TRHR 1205 100% . TRIAP1 239 100% . TRIB1 1131 70% . TRIB2 1044 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:584

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRIB3 1089 100% . TRIL 2 0% . TRIM10 1637 96% . TRIM11 1730 89% . TRIM13 1241 99% . TRIM14 1353 98% . TRIM15 1477 96% . TRIM16 1763 99% . TRIM16L 1063 100% . TRIM17 1609 100% . TRIM2 2364 100% . TRIM21 1452 100% . TRIM22 1525 100% . TRIM23 1836 100% . TRIM24 3229 98% . TRIM25 1929 98% . TRIM26 1697 97% . TRIM27 1614 97% . TRIM28 2576 87% . TRIM29 1803 100% . TRIM3 2525 100% . TRIM31 1384 96% . TRIM32 1966 100% Bardet‐Biedl Syndrome TRIM32 1966 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive TRIM32 1966 100% Limb‐Girdle Muscular Dystrophy Type 2H TRIM32 1966 100% TRIM32‐Related Bardet‐Biedl Syndrome TRIM33 3464 88% . TRIM34 1572 100% . TRIM35 1506 97% . TRIM36 2478 100% . TRIM37 2999 100% Mulibrey Nanism TRIM38 1422 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:585

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRIM39 1629 97% . TRIM39‐RPP21 2134 97% . TRIM4 1531 92% . TRIM40 832 96% . TRIM41 2039 99% . TRIM42 2192 100% . TRIM43 1365 56% . TRIM43B 6 0% . TRIM44 1055 100% . TRIM45 1767 100% . TRIM46 2369 99% . TRIM47 1941 67% . TRIM48 695 100% . TRIM49 1383 90% . TRIM49L1 2774 7% . TRIM49L2 1383 85% . TRIM5 1845 91% . TRIM50 1488 90% . TRIM52 902 100% . TRIM54 1239 90% . TRIM55 1779 100% . TRIM56 2272 94% . TRIM58 1485 89% . TRIM59 1219 100% . TRIM6 1630 100% . TRIM60 1420 100% . TRIM61 638 83% . TRIM62 1448 98% . TRIM63 1098 100% . TRIM64 1396 17% . TRIM64B 1396 100% . TRIM64C 1338 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:586

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRIM65 1578 70% . TRIM66 3824 100% . TRIM67 2392 94% . TRIM68 1482 100% . TRIM69 1531 93% . TRIM6‐TRIM34 2632 100% . TRIM7 1684 71% . TRIM71 2623 88% . TRIM72 1458 79% . TRIM73 769 66% . TRIM74 769 66% . TRIM77P 838 100% . TRIM8 1680 100% . TRIM9 2319 100% . TRIML1 1431 100% . TRIML2 1192 100% . TRIO 9522 97% . TRIOBP 7488 94% DFNB28 Nonsyndromic Hearing Loss and Deafness TRIOBP 7488 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TRIP10 1838 100% . TRIP11 6024 100% Achondrogenesis Type IA TRIP12 6238 100% . TRIP13 1351 97% . TRIP4 1798 95% . TRIP6 1467 94% . TRIT1 1450 100% . TRMT1 2044 97% . TRMT11 1444 99% . TRMT112 394 100% . TRMT12 1351 100% . TRMT1L 2270 100% . TRMT2A 2027 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:587

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRMT2B 1563 100% . TRMT5 1550 100% . TRMT6 1623 100% . TRMT61A 882 99% . TRMT61B 1462 100% . TRMU 1310 94% Liver Failure, Acute Infantile TRNAU1AP 900 97% . TRNP1 1 0% . TRNT1 1333 100% . TRO 4479 100% . TROAP 2495 99% . TROVE2 1706 100% . TRPA1 3468 100% . TRPC1 2434 100% . TRPC3 2814 98% . TRPC4 2989 100% . TRPC4AP 2470 98% . TRPC5 2962 100% . TRPC6 2848 95% Focal Segmental Glomerulosclerosis TRPC6 2848 95% Focal Segmental Glomerulosclerosis 2 TRPC7 2654 100% . TRPM1 4918 100% Congenital Stationary Night Blindness, Type 1C TRPM2 4640 97% . TRPM3 5573 100% . TRPM4 3745 97% . TRPM5 3600 89% . TRPM6 6347 100% Hypomagnesemia with Secondary Hypocalcemia TRPM7 5754 100% . TRPM8 3609 100% . TRPS1 3909 100% Langer‐Giedion Syndrome TRPS1 3909 100% Trichorhinophalangeal Syndrome Type I TRPS1 3909 100% Trichorhinophalangeal Syndrome Type III UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:588

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TRPT1 793 94% . TRPV1 2646 100% . TRPV2 2351 99% . TRPV3 2455 100% . TRPV4 2676 99% Brachyolmia Type 2 TRPV4 2676 99% Brachyolmia Type 3 TRPV4 2676 99% Charcot‐Marie‐Tooth Neuropathy Type 2 TRPV4 2676 99% Charcot‐Marie‐Tooth Neuropathy Type 2C TRPV4 2676 99% Distal Congenital Nonprogressive Spinal Muscular Atrophy TRPV4 2676 99% Metatropic Dysplasia TRPV4 2676 99% Scapuloperoneal Spinal Muscular Atrophy TRPV4 2676 99% Spondylometaphyseal Dysplasia, Kozlowski Type TRPV5 2274 100% . TRPV6 2245 100% . TRRAP 11921 100% . TRUB1 1082 100% . TRUB2 1028 100% . TSC1 3651 100% 1 TSC1 3651 100% Tuberous Sclerosis Complex TSC2 5617 96% Tuberous Sclerosis 2 TSC2 5617 96% Tuberous Sclerosis Complex TSC22D1 3364 99% . TSC22D2 2359 100% . TSC22D3 867 100% . TSC22D4 1273 99% . TSEN15 556 79% . TSEN2 1481 100% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN2 1481 100% TSEN2‐Related Pontocerebellar Hypoplasia TSEN34 953 93% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN34 953 93% TSEN34‐Related Pontocerebellar Hypoplasia TSEN54 1788 86% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN54 1788 86% TSEN54‐Related Pontocerebellar Hypoplasia UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:589

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TSFM 1070 94% Combined Oxidative Phosphorylation Deficiency TSFM 1070 94% Combined Oxidative Phosphorylation Deficiency 3 TSG101 1213 100% . TSGA10 2165 100% . TSGA10IP 272 98% . TSGA13 856 100% . TSHB 425 100% . TSHR 2409 100% Congenital Hypothyroidism TSHR 2409 100% Congenital Hypothyroidism, Nongoitrous 1 TSHR 2409 100% Hyperthyroidism, Nonautoimmune TSHR 2409 100% Hyperthyroidism, Nonautoimmune (316270) TSHZ1 3103 100% . TSHZ2 3114 99% . TSHZ3 3254 99% . TSKS 1823 100% . TSKU 1066 98% . TSLP 496 100% . TSN 711 100% . TSNARE1 1632 98% . TSNAX 918 100% . TSNAXIP1 2048 100% . TSPAN1 754 100% . TSPAN10 1084 92% . TSPAN11 790 100% . TSPAN12 946 100% . TSPAN13 639 100% . TSPAN14 874 97% . TSPAN15 917 91% . TSPAN16 799 93% . TSPAN17 1640 100% . TSPAN18 775 100% . TSPAN19 779 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:590

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TSPAN2 698 97% . TSPAN3 790 91% . TSPAN31 831 97% . TSPAN32 1043 100% . TSPAN33 884 94% . TSPAN4 762 100% . TSPAN5 839 100% . TSPAN6 766 100% . TSPAN7 778 98% X‐Linked Mental Retardation 58 TSPAN8 746 100% . TSPAN9 916 85% . TSPEAR 2069 99% . TSPO 602 64% . TSPO2 525 100% . TSPY1 951 91% . TSPY2 962 64% . TSPY3 1924 22% . TSPY4 3364 17% . TSPY8 962 26% . TSPYL1 1318 100% . TSPYL2 2448 92% . TSPYL4 1399 100% . TSPYL5 1258 97% . TSPYL6 1237 100% . TSR1 2475 100% . TSR2 596 96% . TSSC1 1200 97% . TSSC4 994 99% . TSSK1B 1108 100% . TSSK2 1084 100% . TSSK3 815 100% . TSSK4 1233 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:591

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TSSK6 826 100% . TST 902 99% . TSTA3 1091 96% . TSTD1 485 88% . TSTD2 1721 100% . TTBK1 4022 88% . TTBK2 3823 100% Spinocerebellar Ataxia Type11 TTC1 907 100% . TTC12 2202 100% . TTC13 2675 90% . TTC14 2441 100% . TTC16 2848 100% . TTC17 3594 100% . TTC18 3483 98% . TTC19 1546 75% . TTC21A 4296 100% . TTC21B 4068 100% . TTC22 1841 73% . TTC23 1608 100% . TTC23L 1122 100% . TTC24 1789 88% . TTC25 1882 100% . TTC26 1763 100% . TTC27 2612 100% . TTC28 7538 96% . TTC29 1487 100% . TTC3 6258 100% . TTC30A 2002 100% . TTC30B 2002 100% . TTC31 1683 99% . TTC32 468 100% . TTC33 805 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:592

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TTC34 1729 51% . TTC35 938 100% . TTC36 582 54% . TTC37 4855 100% . TTC38 1466 98% . TTC39A 2278 96% . TTC39B 2188 96% . TTC39C 1809 90% . TTC4 1328 100% . TTC40 8714 90% . TTC5 1363 100% . TTC7A 2657 93% . TTC7B 2612 100% . TTC8 1608 100% Bardet‐Biedl Syndrome TTC8 1608 100% Retinitis Pigmentosa, Autosomal Recessive TTC8 1608 100% TTC8‐Related Bardet‐Biedl Syndrome TTC8 1608 100% TTC8‐Related Retinitis Pigmentosa TTC9 681 73% . TTC9B 732 92% . TTC9C 554 100% . TTF1 2758 100% . TTF2 3581 100% . TTI1 3298 100% . TTI2 1555 100% . TTK 2658 100% . TTL 1162 100% . TTLL1 1308 100% . TTLL10 2107 81% . TTLL11 2517 76% . TTLL12 1991 89% . TTLL13 1416 100% . TTLL2 1791 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:593

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TTLL3 2575 100% . TTLL4 3672 100% . TTLL5 3970 100% . TTLL6 2906 100% . TTLL7 2744 100% . TTLL9 1410 100% . TTN 111745 100% Dilated Cardiomyopathy TTN 111745 100% Early‐Onset Myopathy with Fatal Cardiomyopathy TTN 111745 100% Familial Hypertrophic Cardiomyopathy TTN 111745 100% Hereditary Myopathy with Early Respiratory Failure TTN 111745 100% Limb‐Girdle Muscular Dystrophies, Autosomal Recessive TTN 111745 100% Limb‐Girdle Muscular Dystrophy Type 2J TTN 111745 100% TTN‐Related Dilated Cardiomyopathy TTN 111745 100% TTN‐Related Familial Hypertrophic Cardiomyopathy TTN 111745 100% Udd Distal Myopathy TTPA 857 79% Ataxia with Vitamin E Deficiency TTPAL 1045 100% . TTR 481 100% Familial Transthyretin Amyloidosis TTYH1 1488 91% . TTYH2 1661 100% . TTYH3 1741 82% . TUB 1780 100% . TUBA1A 1372 100% Lissencephaly 3 TUBA1B 1372 100% . TUBA1C 1472 100% . TUBA3C 1373 100% . TUBA3D 1373 100% . TUBA3E 1373 100% . TUBA4A 1363 99% . TUBA8 1445 100% . TUBAL3 1361 100% . TUBB 1379 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:594

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TUBB1 1372 100% . TUBB2A 1354 88% . TUBB2B 1354 89% Polymicrogyria, Asymmetric TUBB3 1369 100% Congenital Fibrosis of the Extraocular Muscles TUBB3 1369 100% TUBB3‐Related Congenital Fibrosis of the Extraocular Muscles TUBB4A 1351 100% . TUBB4B 1354 100% . TUBB6 1357 100% . TUBB8 1517 100% . TUBD1 1407 100% . TUBE1 1520 93% . TUBG1 1400 96% . TUBG2 1400 97% . TUBGCP2 2777 99% . TUBGCP3 2812 100% . TUBGCP4 2076 100% . TUBGCP5 3214 99% . TUBGCP6 5619 100% . TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 (319007) TUFT1 1225 94% . TULP1 1704 92% Leber Congenital Amaurosis TULP1 1704 92% Retinitis Pigmentosa, Autosomal Recessive TULP1 1704 92% TULP1‐Related Leber Congenital Amaurosis TULP1 1704 92% TULP1‐Related Retinitis Pigmentosa TULP2 1611 100% . TULP3 1377 98% . TULP4 4688 100% . TUSC1 643 60% . TUSC2 345 70% . TUSC3 1107 100% Mental Retardation, Autosomal Recessive 7 UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:595

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TUSC5 546 100% . TUT1 2853 100% . TWF1 1218 89% . TWF2 1086 99% . TWIST1 613 67% Saethre‐Chotzen Syndrome TWIST2 487 45% . TWISTNB 1033 100% . TWSG1 688 100% . TXK 1660 100% . TXLNA 1681 100% . TXLNB 2275 100% . TXLNG 1627 93% . TXN 338 99% . TXN2 513 100% . TXNDC11 2925 95% . TXNDC12 547 100% . TXNDC15 1103 100% . TXNDC16 2554 100% . TXNDC17 388 100% . TXNDC2 1670 100% . TXNDC3 1827 100% Primary Ciliary Dyskinesia TXNDC3 1827 100% Primary Ciliary Dyskinesia 6: TXNDC3‐Related Primary Ciliary Dyskinesia TXNDC5 1339 83% . TXNDC8 372 100% . TXNDC9 737 100% . TXNIP 1293 100% . TXNL1 902 100% . TXNL4A 441 100% . TXNL4B 462 100% . TXNRD1 2195 95% . TXNRD2 1643 88% . TXNRD3 2196 81% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:596

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

TXNRD3NB 410 100% . TYK2 3656 97% Familial Atypical Mycobacteriosis, TYK2‐Related TYMP 1877 79% Mitochondrial Neurogastrointestinal Encephalopathy Disease TYMS 1270 83% . TYR 1610 100% Oculocutaneous Albinism Type 1 TYRO3 2749 95% . TYROBP 362 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TYROBP 362 100% TYROBP‐Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TYRP1 1646 100% Oculocutaneous Albinism Type 3 TYSND1 1717 68% . TYW1 2263 100% . TYW1B 16 0% . TYW3 804 100% . TYW5 980 100% . U2AF1 826 100% . U2AF1L4 1023 84% . U2AF2 1476 100% . U2SURP 3226 100% . UACA 4370 98% . UAP1 1554 100% . UAP1L1 1685 80% . UBA1 3560 99% Spinal Muscular Atrophy, X‐Linked Infantile UBA2 1991 100% . UBA3 1464 99% . UBA5 1263 90% . UBA52 403 100% . UBA6 3369 100% . UBA7 3135 99% . UBAC1 1258 99% . UBAC2 1231 99% . UBAP1 1534 100% . UBAP1L 5 0% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:597

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UBAP2 3674 100% . UBAP2L 3652 100% . UBASH3A 2046 95% . UBASH3B 2006 98% . UBB 694 100% . UBC 2062 97% . UBD 518 98% . UBE2A 483 100% . UBE2B 483 86% . UBE2C 715 86% . UBE2CBP 1210 100% . UBE2D1 472 97% . UBE2D2 472 100% . UBE2D3 579 100% . UBE2D4 564 100% . UBE2E1 661 100% . UBE2E2 626 100% . UBE2E3 712 100% . UBE2F 627 100% . UBE2G1 533 100% . UBE2G2 549 92% . UBE2H 599 100% . UBE2I 643 100% . UBE2J1 989 99% . UBE2J2 860 94% . UBE2K 631 100% . UBE2L3 5405 9% . UBE2L6 478 100% . UBE2M 576 100% . UBE2N 475 100% . UBE2NL 466 100% . UBE2O 3951 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:598

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UBE2Q1 1321 89% . UBE2Q2 1345 96% . UBE2QL1 494 100% . UBE2R2 737 100% . UBE2S 685 99% . UBE2T 618 100% . UBE2U 717 100% . UBE2V1 555 99% . UBE2V2 454 100% . UBE2W 517 98% . UBE2Z 1093 71% . UBE3A 2696 100% Angelman Syndrome UBE3B 3311 100% . UBE3C 3380 100% . UBE4A 3298 100% . UBE4B 4033 100% . UBFD1 1630 99% . UBIAD1 1025 100% Schnyder Crystalline Corneal Dystrophy UBL3 374 100% . UBL4A 594 77% . UBL4B 529 100% . UBL5 238 100% . UBL7 1183 94% . UBLCP1 997 100% . UBN1 3473 100% . UBN2 4120 93% . UBOX5 1642 100% . UBP1 1687 100% . UBQLN1 1814 100% . UBQLN2 1879 98% . UBQLN3 1972 100% . UBQLN4 1850 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:599

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UBQLNL 1432 100% . UBR1 5438 100% . UBR2 5613 99% . UBR3 5837 97% . UBR4 16435 100% . UBR5 8636 99% . UBR7 1322 90% . UBTD1 696 90% . UBTD2 717 90% . UBTF 2375 99% . UBTFL1 1186 88% . UBXN1 1092 100% . UBXN10 847 100% . UBXN11 1636 97% . UBXN2A 804 100% . UBXN2B 1028 91% . UBXN4 1653 100% . UBXN6 1370 100% . UBXN7 1514 100% . UBXN8 844 100% . UCHL1 773 87% Parkinson Disease UCHL3 729 100% . UCHL5 1126 100% . UCK1 904 88% . UCK2 814 91% . UCKL1 1841 92% . UCMA 437 100% . UCN 379 56% . UCN2 343 94% . UCN3 490 100% . UCP1 948 100% . UCP2 954 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:600

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UCP3 967 100% . UEVLD 1464 100% . UFC1 528 100% . UFD1L 1071 100% . UFL1 2461 100% . UFM1 338 100% . UFSP1 433 100% . UFSP2 1464 100% . UGCG 1221 96% . UGDH 1536 100% . UGGT1 4915 98% . UGGT2 4707 98% . UGP2 1568 100% . UGT1A1 1622 100% Crigler‐Najjar Syndrome UGT1A1 1622 100% Gilbert Syndrome UGT1A10 1613 100% . UGT1A3 1625 100% . UGT1A4 1625 100% . UGT1A5 1625 100% . UGT1A6 1619 100% . UGT1A7 1613 100% . UGT1A8 1613 100% . UGT1A9 1613 100% . UGT2A1 2378 94% . UGT2A2 1523 100% . UGT2A3 1614 100% . UGT2B10 2929 100% . UGT2B11 1614 100% . UGT2B15 1623 100% . UGT2B17 1623 100% . UGT2B28 1614 100% . UGT2B4 1611 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:601

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UGT2B7 1614 100% . UGT3A1 1778 100% . UGT3A2 1600 100% . UGT8 1646 100% . UHMK1 1293 100% . UHRF1 2484 100% . UHRF1BP1 4419 99% . UHRF1BP1L 4503 100% . UHRF2 2473 100% . UIMC1 2231 100% . ULBP1 751 100% . ULBP2 757 100% . ULBP3 770 100% . ULK1 3265 97% . ULK2 3227 100% . ULK3 1515 86% . ULK4 3972 100% . UMOD 1963 89% Familial Juvenile Hyperuricemic Nephropathy Type 1 UMOD 1963 89% UMOD‐Associated Kidney Disease UMODL1 4721 100% . UMPS 1514 100% Oroticaciduria UNC119 796 88% UNC119‐Related Cone‐Rod Dystrophy UNC119B 776 68% . UNC13A 5310 96% . UNC13B 4935 99% . UNC13C 6763 100% . UNC13D 3401 97% Familial Hemophagocytic Lymphohistiocytosis UNC13D 3401 97% Familial Hemophagocytic Lymphohistiocytosis 3 UNC45A 3206 97% . UNC45B 2872 100% . UNC50 874 100% . UNC5A 2589 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:602

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UNC5B 2906 99% . UNC5C 2865 100% . UNC5CL 1589 100% . UNC5D 2930 96% . UNC79 7648 100% . UNC80 10037 98% . UNC93A 1406 100% . UNC93B1 1837 77% . UNCX 1608 34% . UNG 1075 95% Immunodeficiency with Hyper‐IgM, Type 5 UNK 2650 100% . UNKL 2450 71% . UPB1 1195 100% Beta‐Ureidopropionase Deficiency UPF1 3588 99% . UPF2 3903 100% . UPF3A 1471 80% . UPF3B 1496 100% Mental Retardation, X‐linked, Syndromic 14 UPK1A 805 100% . UPK1B 811 100% . UPK2 575 100% . UPK3A 888 94% . UPK3B 1063 87% . UPK3BL 816 10% . UPP1 963 100% . UPP2 1161 92% . UPRT 981 100% . UQCC 1033 100% . UQCR10 467 100% . UQCR11 179 82% . UQCRB 353 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB‐Related UQCRC1 1550 96% . UQCRC2 1418 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:603

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UQCRFS1 833 74% . UQCRH 292 100% . UQCRHL 1 0% . UQCRQ 257 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related URB1 6972 93% . URB2 4611 100% . URGCP 2820 99% . URGCP‐MRPS24 380 77% . URI1 1714 97% . URM1 575 100% . UROC1 2295 96% . UROD 1144 100% Porphyria Cutanea Tarda UROS 842 100% Congenital Erythropoietic Porphyria USE1 826 100% . USF1 973 100% . USF2 1081 73% . USH1C 2889 99% DFNB18 Nonsyndromic Hearing Loss and Deafness USH1C 2889 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive USH1C 2889 99% Usher Syndrome Type 1 USH1C 2889 99% Usher Syndrome Type 1C USH1G 1398 93% Usher Syndrome Type 1 USH1G 1398 93% Usher Syndrome Type 1G USH2A 15913 100% Retinitis Pigmentosa, Autosomal Recessive USH2A 15913 100% USH2A‐Related Retinitis Pigmentosa USH2A 15913 100% Usher Syndrome Type 2 USH2A 15913 100% Usher Syndrome Type 2A USHBP1 2164 96% . USMG5 185 100% . USO1 2760 100% . USP1 2391 100% . USP10 2453 99% . USP11 2977 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:604

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

USP12 1149 100% . USP13 2676 95% . USP14 1768 100% . USP15 3075 97% . USP16 2540 100% . USP17 12777 8% . USP17L2 1597 100% . USP17L5 12776 2% . USP18 1159 95% . USP19 4491 100% . USP2 2018 90% . USP20 2837 96% . USP21 1751 100% . USP22 1834 87% . USP24 8135 99% . USP25 3264 99% . USP26 2746 100% . USP27X 1 0% . USP28 3334 98% . USP29 2773 100% . USP3 1623 100% . USP30 1606 99% . USP31 4208 91% . USP32 4951 100% . USP33 2937 98% . USP34 10965 100% . USP35 3101 86% . USP36 3613 97% . USP37 3032 100% . USP38 3217 100% . USP39 1770 99% . USP4 3231 92% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:605

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

USP40 3951 94% . USP42 4015 99% . USP43 3534 88% . USP44 2159 100% . USP45 2539 100% . USP46 1156 98% . USP47 3972 99% . USP48 3291 97% . USP49 1939 100% . USP5 2657 100% . USP50 1058 100% . USP51 2140 97% . USP53 3282 100% . USP54 5143 100% . USP6 4337 100% . USP6NL 2603 100% . USP7 3433 98% . USP8 3439 100% . USP9X 7889 100% . USP9Y 7844 100% Infertility USPL1 3311 100% . UST 1253 94% . UTF1 1034 29% . UTP11L 794 100% . UTP14A 2376 100% . UTP14C 2305 100% . UTP15 1605 100% . UTP18 1738 98% . UTP20 8606 99% . UTP23 762 100% . UTP3 1444 100% . UTP6 1870 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:606

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

UTRN 10602 100% . UTS2 520 100% . UTS2D 380 100% . UTS2R 1174 86% . UTY 4433 95% . UVRAG 2160 91% . UXS1 1398 93% . UXT 633 100% . VAC14 2425 100% . VAMP1 796 67% . VAMP2 371 98% . VAMP3 323 100% . VAMP4 454 100% . VAMP5 363 98% . VAMP7 888 99% . VAMP8 315 99% . VANGL1 1603 100% Caudal Dysgenesis Syndrome VANGL1 1603 100% VANGL1‐Related VANGL2 1594 100% . VAPA 913 100% . VAPB 756 98% Amyotrophic Lateral Sclerosis VAPB 756 98% Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant VAPB 756 98% VAPB‐Related Amyotrophic Lateral Sclerosis VARS 4063 96% . VARS2 3469 94% . VASH1 1211 92% . VASH2 1096 96% . VASN 2026 97% . VASP 1195 91% . VAT1 1206 93% . VAT1L 1296 96% . VAV1 2646 94% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:607

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

VAV2 2757 99% . VAV3 2677 100% . VAX1 1157 77% Anophthalmia/Microphthalmia VAX2 885 72% . VBP1 618 87% . VCAM1 2256 100% . VCAN 10336 100% Erosive Vitreoretinopathy VCAN 10336 100% VCAN‐Related Vitreoretinopathy VCAN 10336 100% Wagner Syndrome VCL 3598 99% Dilated Cardiomyopathy VCL 3598 99% VCL‐Related Dilated Cardiomyopathy VCP 2489 99% Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia VCP 2489 99% VCP‐Related Amyotrophic Lateral Sclerosis VCPIP1 3681 100% . VCX 726 92% . VCX2 486 90% . VCX3A 569 82% . VCX3B 846 87% . VCY 772 0% . VCY1B 772 0% . VDAC1 885 100% . VDAC2 1001 100% . VDAC3 884 100% . VDR 1318 100% Osteoporosis VDR 1318 100% Vitamin D‐Dependent Rickets Type II VEGFA 1297 80% . VEGFB 696 87% . VEGFC 1291 100% . VENTX 789 100% . VEPH1 2668 100% . VEZF1 1590 98% . VEZT 2398 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:608

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

VGF 1852 91% . VGLL1 793 100% . VGLL2 970 69% . VGLL3 997 100% . VGLL4 1034 88% . VHL 654 85% Familial Erythrocytosis 2 VHL 654 85% Von Hippel‐Lindau Syndrome VHLL 1 0% . VIL1 2724 100% . VILL 2729 100% . VIM 1514 99% . VIP 533 100% . VIPR1 1426 84% . VIPR2 1794 82% . VIT 2267 100% . VKORC1 565 100% Vitamin K‐Dependent Clotting Factors, Combined Deficiency of, 2 VKORC1L1 656 98% . VLDLR 2848 95% VLDLR‐Associated Cerebellar Hypoplasia VMA21 318 82% . VMAC 518 59% . VMO1 655 100% . VMP1 1265 100% . VN1R1 1066 100% . VN1R2 1192 88% . VN1R4 910 100% . VN1R5 1 0% . VNN1 1570 100% . VNN2 1591 100% . VOPP1 539 95% . VPRBP 4463 100% . VPREB1 457 100% . VPREB3 386 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:609

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

VPS11 2979 100% . VPS13A 9959 100% Chorea‐acanthocytosis VPS13B 12507 99% VPS13C 11630 100% . VPS13D 13443 100% . VPS16 2741 98% . VPS18 2942 97% . VPS25 555 100% . VPS26A 1020 99% . VPS26B 1035 100% . VPS28 816 94% . VPS29 581 100% . VPS33A 1843 100% . VPS33B 1946 97% Arthrogryposis, Renal Dysfunction, and Cholestasis 1 VPS35 2459 100% . VPS36 1259 100% . VPS37A 1238 94% . VPS37B 874 100% . VPS37C 1084 73% . VPS37D 772 56% . VPS39 2728 99% . VPS41 2699 100% . VPS45 1773 100% . VPS4A 1358 99% . VPS4B 1379 100% . VPS52 2384 96% . VPS53 2602 100% . VPS54 3022 100% . VPS72 1152 100% . VPS8 4486 100% . VRK1 1239 100% Pontocerebellar Hypoplasia Type 1 VRK2 1593 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:610

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

VRK3 1473 100% . VRTN 2113 100% . VSIG1 1304 100% . VSIG10 1659 99% . VSIG10L 1342 71% . VSIG2 1016 100% . VSIG4 1236 100% . VSIG8 1273 81% . VSNL1 588 100% . VSTM1 785 100% . VSTM2A 832 100% . VSTM2B 878 60% . VSTM2L 636 71% . VSTM4 1118 95% . VSTM5 660 86% . VSX1 1313 59% Keratoconus 1 VSX2 1106 71% Anophthalmia/Microphthalmia VSX2 1106 71% VSX2‐Related Isolated Microphthalmia VTA1 956 100% . VTCN1 922 100% . VTI1A 686 100% . VTI1B 723 100% . VTN 1469 100% . VWA1 1350 64% . VWA2 2222 100% . VWA3A 3734 100% . VWA3B 4244 100% . VWA5A 2442 100% . VWA5B1 3750 98% . VWA5B2 3844 85% . VWA7 2848 90% . VWC2 990 57% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:611

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

VWC2L 681 100% . VWCE 2952 94% . VWDE 5078 99% . VWF 8700 96% von Willebrand Disease WAC 2000 100% . WAPAL 3667 100% . WARS 1456 100% . WARS2 1136 100% . WAS 1557 97% WAS‐Related Disorders WAS 1557 97% Wiskott‐Aldrich Syndrome WASF1 1712 100% . WASF2 1529 100% . WASF3 1541 100% . WASH1 10 0% . WASL 1562 100% . WBP1 826 100% . WBP11 1970 100% . WBP2 1062 85% . WBP2NL 954 100% . WBP4 1171 100% . WBP5 319 100% . WBSCR16 1439 47% . WBSCR17 1841 100% . WBSCR22 1199 100% . WBSCR27 758 100% . WBSCR28 810 100% . WDFY1 1281 100% . WDFY2 1251 100% . WDFY3 10884 100% . WDFY4 10198 98% . WDHD1 3490 100% . WDPCP 2488 98% WDPCP‐Related Bardet‐Biedl Syndrome UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:612

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WDR1 1956 100% . WDR11 3793 100% . WDR12 1324 100% . WDR13 1494 99% . WDR16 1919 100% . WDR17 4137 100% . WDR18 1339 89% . WDR19 4178 100% . WDR20 1949 100% . WDR24 2515 90% . WDR25 1659 100% . WDR26 2107 99% . WDR27 3004 97% . WDR3 2936 100% . WDR31 1140 100% . WDR33 4504 100% . WDR34 1790 95% . WDR35 3694 100% . WDR36 2981 100% Primary Open Angle Glaucoma (Adult Onset) WDR37 1564 100% . WDR38 981 95% . WDR4 1283 89% . WDR41 1444 100% . WDR43 2106 100% . WDR44 2829 100% . WDR45 1232 99% . WDR45L 1075 99% . WDR46 1957 97% . WDR47 2844 100% . WDR48 2153 100% . WDR49 2248 100% . WDR5 1057 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:613

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WDR52 5736 100% . WDR53 1085 100% . WDR54 1049 100% . WDR55 1256 100% . WDR59 3076 100% . WDR5B 997 100% . WDR6 3502 100% . WDR60 3301 95% . WDR61 958 100% . WDR62 4700 97% Microcephaly, Cortical Malformations, and Mental Retardation WDR63 2764 100% . WDR64 3354 100% . WDR65 4028 100% . WDR66 3593 100% . WDR67 3289 99% . WDR69 1300 100% . WDR7 4585 100% . WDR70 2037 100% . WDR72 3385 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA3 WDR73 1323 100% . WDR74 1289 100% . WDR75 2577 97% . WDR76 1933 100% . WDR77 1105 93% . WDR78 2695 100% . WDR81 5928 92% . WDR82 978 100% . WDR83 984 100% . WDR83OS 337 100% . WDR85 1395 89% . WDR86 1655 54% . WDR87 8759 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:614

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WDR88 1463 100% . WDR89 1168 100% . WDR90 5925 89% . WDR91 2361 100% . WDR92 1107 100% . WDR93 2125 100% . WDR96 5193 100% . WDSUB1 1471 100% . WDTC1 2245 100% . WDYHV1 642 87% . WEE1 1985 79% . WEE2 1752 100% . WFDC1 687 72% . WFDC10A 248 100% . WFDC10B 463 100% . WFDC11 276 100% . WFDC12 348 100% . WFDC13 294 100% . WFDC2 457 98% . WFDC3 720 100% . WFDC5 691 98% . WFDC6 325 100% . WFDC8 750 100% . WFDC9 282 100% . WFIKKN1 1655 99% . WFIKKN2 1739 100% . WFS1 2737 94% DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness WFS1 2737 94% DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss WFS1 2737 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant WFS1 2737 94% WFS1‐Related Disorders WFS1 2737 94% Wolfram Syndrome WFS1 2737 94% Wolfram Syndrome‐Like Disease UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:615

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WHAMM 2470 87% . WHSC1 4439 100% . WHSC1L1 4493 100% . WHSC2 1679 93% . WIBG 784 75% . WIF1 1180 89% . WIPF1 1649 100% . WIPF2 1351 100% . WIPF3 1508 83% . WIPI1 1393 94% . WIPI2 1614 96% . WISP1 1149 100% . WISP2 928 99% . WISP3 1145 100% Progressive Pseudorheumatoid Arthropathy of Childhood WIZ 2413 99% . WLS 1805 100% . WNK1 7292 100% Hereditary Sensory and Autonomic Neuropathy Type II WNK1 7292 100% Hereditary Sensory and Autonomic Neuropathy Type IIA WNK1 7292 100% Pseudohypoaldosteronism, Type II WNK1 7292 100% Pseudohypoaldosteronism, Type IIC WNK2 6988 94% . WNK3 5495 99% . WNK4 3955 99% Pseudohypoaldosteronism, Type II WNK4 3955 99% Pseudohypoaldosteronism, Type IIB WNT1 1129 82% . WNT10A 1270 97% Odontoonychodermal Dysplasia WNT10A 1270 97% Schopf‐Schulz‐Passarge Syndrome WNT10B 1190 95% . WNT11 1085 74% . WNT16 1198 100% . WNT2 1103 100% . WNT2B 1331 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:616

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WNT3 1084 97% Tetra‐ Syndrome WNT3A 1075 100% . WNT4 1076 92% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis WNT4 1076 92% Mullerian Aplasia And Hyperandrogenism WNT4 1076 92% WNT4‐Related 46,XY DSD and 46,XY CGD WNT5A 1216 100% . WNT5B 1096 100% . WNT6 1114 73% . WNT7A 1066 100% Absence of and with Severe Limb Deficiency WNT7B 1066 100% . WNT8A 1168 100% . WNT8B 1080 99% . WNT9A 1114 90% . WNT9B 1229 94% . WRAP53 1944 94% . WRAP73 1499 100% . WRB 545 100% . WRN 4435 100% Werner Syndrome WRNIP1 2026 82% . WSB1 1407 100% . WSB2 1251 99% . WSCD1 1760 97% . WSCD2 1730 100% . WT1 1608 77% Aniridia‐Wilms Tumor Contiguous Gene Deletion Syndrome WT1 1608 77% Denys‐Drash Syndrome WT1 1608 77% Diffuse Mesangial Sclerosis Syndromes (DMS) WT1 1608 77% Frasier Syndrome WT1 1608 77% Isolated Diffuse Mesangial Sclerosis WT1 1608 77% Wilms Tumor WT1 1608 77% Wilms Tumor‐Aniridia‐Genital Anomalies‐Retardation Syndrome WT1 1608 77% WT1‐Related Disorders WTAP 1223 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:617

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

WTH3DI 1 0% . WTIP 1433 46% . WWC1 3452 98% . WWC2 3811 96% . WWC3 3374 99% . WWOX 1680 95% . WWP1 2861 100% . WWP2 2705 100% . WWTR1 1227 100% . XAB2 2644 100% . XAF1 995 100% . XAGE1A 1600 0% . XAGE1B 1600 0% . XAGE1C 1600 0% . XAGE1D 1600 0% . XAGE1E 1600 0% . XAGE2 704 0% . XAGE2B 704 0% . XAGE3 352 100% . XAGE5 343 100% . XBP1 1192 89% . XCL1 357 100% . XCL2 357 100% . XCR1 1006 100% . XDH 4146 100% Xanthinuria, Type I XG 635 99% . XIAP 1518 100% Lymphoproliferative Disease, X‐Linked XIAP 1518 100% XIAP‐Related Lymphoproliferative Disease, X‐Linked XIRP1 5536 100% . XIRP2 12339 100% . XK 1347 99% McLeod Neuroacanthocytosis Syndrome XKR3 1392 71% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:618

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

XKR4 1965 100% . XKR5 2090 97% . XKR6 1938 95% . XKR7 1752 85% . XKR8 1200 76% . XKR9 1134 100% . XKRX 1401 100% . XKRY 2 0% . XKRY2 2 0% . XPA 846 99% Xeroderma Pigmentosum XPA 846 99% XPA‐Related Xeroderma Pigmentosum XPC 2887 100% Xeroderma Pigmentosum XPC 2887 100% XPC‐Related Xeroderma Pigmentosum XPNPEP1 2085 94% . XPNPEP2 2171 98% . XPNPEP3 1565 100% Nephronophthisis‐Like Nephropathy 1 XPO1 3333 100% . XPO4 3551 99% . XPO5 3857 100% . XPO6 3474 100% . XPO7 3403 99% . XPOT 2985 100% . XPR1 2151 100% . XRCC1 1970 100% . XRCC2 855 100% . XRCC3 1069 80% . XRCC4 1043 100% . XRCC5 2655 100% . XRCC6 1878 100% . XRCC6BP1 765 100% . XRN1 5326 100% . XRN2 2973 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:619

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

XRRA1 2607 100% . XXYLT1 1198 80% . XYLB 1687 97% . XYLT1 2928 88% . XYLT2 2642 92% . YAE1D1 693 100% . YAF2 636 94% . YAP1 1563 95% . YARS 1639 100% YARS‐Related Intermediate Charcot‐Marie‐Tooth Neuropathy YARS2 1454 100% . YBEY 520 82% . YBX1 1003 83% . YBX2 1127 76% . YDJC 1051 66% . YEATS2 4393 99% . YEATS4 712 100% . YES1 1676 100% . YIF1A 1058 99% . YIF1B 1075 96% . YIPF1 956 100% . YIPF2 983 96% . YIPF3 1184 100% . YIPF4 759 92% . YIPF5 830 100% . YIPF6 739 95% . YIPF7 871 100% . YJEFN3 1091 75% . YKT6 625 100% . YLPM1 6588 100% . YME1L1 2402 100% . YOD1 1055 97% . YPEL1 376 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:620

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

YPEL2 376 100% . YPEL3 490 100% . YPEL4 400 100% . YPEL5 374 100% . YRDC 860 56% . YSK4 4031 100% . YTHDC1 2269 99% . YTHDC2 4413 100% . YTHDF1 1700 98% . YTHDF2 1760 100% . YTHDF3 1750 99% . YWHAB 761 100% . YWHAE 792 100% . YWHAG 752 100% . YWHAH 749 88% . YWHAQ 758 100% . YWHAZ 758 100% . YY1 1265 89% . YY1AP1 2836 100% . YY2 1123 100% . ZACN 1532 100% . ZADH2 1142 97% . ZAK 2871 100% . ZAN 8788 100% . ZAP70 1908 96% ZAP70‐Related Severe Combined Immunodeficiency ZAR1 1291 42% . ZAR1L 982 100% . ZBBX 2596 100% . ZBED1 2090 100% . ZBED2 661 100% . ZBED3 709 9% . ZBED4 3520 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:621

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZBED5 2086 31% . ZBED6 1 0% . ZBP1 1513 97% . ZBTB1 2187 100% . ZBTB10 2640 84% . ZBTB11 3308 100% . ZBTB12 1388 99% . ZBTB16 2046 100% . ZBTB17 2841 88% . ZBTB2 1553 100% . ZBTB20 2242 100% . ZBTB22 1913 100% . ZBTB24 2118 100% . ZBTB25 1316 100% . ZBTB26 1330 100% . ZBTB3 1733 100% . ZBTB32 1484 100% . ZBTB33 2023 100% . ZBTB34 1519 100% . ZBTB37 1587 100% . ZBTB38 3592 100% . ZBTB39 2143 100% . ZBTB4 3050 100% . ZBTB40 3788 100% . ZBTB41 2770 100% . ZBTB42 1273 2% . ZBTB43 1408 100% . ZBTB44 1706 100% . ZBTB45 1544 99% . ZBTB46 1786 100% . ZBTB47 2264 88% . ZBTB48 2107 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:622

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZBTB49 2326 100% . ZBTB5 2038 100% . ZBTB6 1279 100% . ZBTB7A 1763 87% . ZBTB7B 1734 94% . ZBTB7C 1868 97% . ZBTB8A 1338 100% . ZBTB8B 1500 100% . ZBTB8OS 568 100% . ZBTB9 1427 100% . ZC3H10 1309 100% . ZC3H11A 2497 100% . ZC3H12A 1820 100% . ZC3H12B 2498 100% . ZC3H12C 2676 99% . ZC3H12D 1612 74% . ZC3H13 4766 100% . ZC3H14 2672 99% . ZC3H15 1321 97% . ZC3H18 2930 94% . ZC3H3 2895 98% . ZC3H4 3968 95% . ZC3H6 3620 100% . ZC3H7A 3004 100% . ZC3H7B 3479 95% . ZC3H8 910 98% . ZC3HAV1 3131 99% . ZC3HAV1L 923 64% . ZC3HC1 1549 100% . ZC4H2 714 100% . ZCCHC10 557 100% . ZCCHC11 5102 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:623

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZCCHC12 1213 100% . ZCCHC13 505 100% . ZCCHC14 2997 100% . ZCCHC16 937 100% . ZCCHC17 832 100% . ZCCHC18 1 0% . ZCCHC2 3593 74% . ZCCHC24 1060 63% . ZCCHC3 1219 65% . ZCCHC4 1594 100% . ZCCHC5 1432 100% . ZCCHC6 4668 100% . ZCCHC7 1664 100% . ZCCHC8 2180 100% . ZCCHC9 836 100% . ZCRB1 682 100% . ZCWPW1 2021 100% . ZCWPW2 1103 100% . ZDBF2 7077 100% . ZDHHC1 1498 85% . ZDHHC11 1571 95% . ZDHHC12 1059 99% . ZDHHC13 1943 99% . ZDHHC14 1503 99% . ZDHHC15 1138 100% . ZDHHC16 1232 100% . ZDHHC17 1969 100% . ZDHHC18 1199 73% . ZDHHC19 958 89% . ZDHHC2 1152 88% . ZDHHC20 1116 99% . ZDHHC21 826 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:624

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZDHHC22 800 100% . ZDHHC23 1250 100% . ZDHHC24 867 89% . ZDHHC3 1016 100% . ZDHHC4 1059 100% . ZDHHC5 2192 100% . ZDHHC6 1282 99% . ZDHHC7 1066 100% . ZDHHC8 2574 89% . ZDHHC9 1133 100% ZDHHC9‐Related X‐linked Mental Retardation ZEB1 3425 100% . ZEB2 3685 100% Mowat‐Wilson Syndrome ZER1 2361 100% . ZFAND1 839 94% . ZFAND2A 633 100% . ZFAND2B 1234 100% . ZFAND3 708 89% . ZFAND4 2220 100% . ZFAND5 671 100% . ZFAND6 647 100% . ZFAT 3903 99% . ZFC3H1 6136 100% . ZFHX2 7755 93% . ZFHX3 11148 100% . ZFHX4 11026 100% . ZFP1 1236 100% . ZFP106 5728 100% . ZFP112 2791 100% . ZFP14 1618 100% . ZFP161 1358 100% . ZFP2 1390 100% . ZFP28 2639 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:625

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZFP3 1513 100% . ZFP30 1576 100% . ZFP36 989 100% . ZFP36L1 1530 100% . ZFP36L2 1493 91% . ZFP37 1909 100% . ZFP41 601 100% . ZFP42 937 100% . ZFP57 1670 99% Diabetes Mellitus, 6q24‐Related Transient Neonatal ZFP62 2528 92% . ZFP64 3261 100% . ZFP82 1615 100% . ZFP90 1967 100% . ZFP91 1757 91% . ZFP92 4 0% . ZFPL1 1053 100% . ZFPM1 3061 61% . ZFPM2 3594 99% . ZFR 3318 98% . ZFR2 3062 78% . ZFX 2446 100% . ZFY 2434 100% . ZFYVE1 2378 100% . ZFYVE16 4690 100% . ZFYVE19 1626 99% . ZFYVE20 2518 100% . ZFYVE21 1009 100% . ZFYVE26 7841 100% Spastic Paraplegia 15 ZFYVE27 1299 100% Spastic Paraplegia 33 ZFYVE28 2936 90% . ZFYVE9 4357 100% . ZG16 516 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:626

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZG16B 643 100% . ZGLP1 832 100% . ZGPAT 1620 100% . ZHX1 2626 100% . ZHX1‐C8ORF76 876 100% . ZHX2 2518 100% . ZHX3 2879 100% . ZIC1 1356 100% . ZIC2 1611 70% Holoprosencephaly ZIC2 1611 70% ZIC2‐Related Holoprosencephaly ZIC3 1416 94% Heterotaxy Syndrome ZIC3 1416 94% Visceral Heterotaxy 1, X‐Linked ZIC4 1140 91% . ZIC5 2000 50% . ZIK1 1480 100% . ZIM2 1998 100% . ZIM3 1435 100% . ZKSCAN1 1712 100% . ZKSCAN2 2932 100% . ZKSCAN3 1772 100% . ZKSCAN4 1748 100% . ZKSCAN5 2548 100% . ZMAT1 1941 94% . ZMAT2 689 100% . ZMAT3 890 100% . ZMAT4 714 91% . ZMAT5 533 100% . ZMIZ1 3438 100% . ZMIZ2 2835 100% . ZMPSTE24 1468 100% Lethal Restrictive Dermopathy, ZMPSTE24‐Related ZMPSTE24 1468 100% Mandibuloacral Dysplasia ZMYM1 3465 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:627

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZMYM2 4302 100% . ZMYM3 4233 99% . ZMYM4 4767 99% . ZMYM5 2145 100% . ZMYM6 4123 76% . ZMYM6NB 477 88% . ZMYND10 1461 100% . ZMYND11 1886 100% . ZMYND12 1130 100% . ZMYND15 2281 95% . ZMYND17 1407 100% . ZMYND19 708 93% . ZMYND8 4121 99% . ZNF10 1738 100% . ZNF100 1649 100% . ZNF101 1327 100% . ZNF107 2361 100% . ZNF114 1266 100% . ZNF117 1460 100% . ZNF12 2160 100% . ZNF121 1181 100% . ZNF124 1174 97% . ZNF131 1911 100% . ZNF132 2154 97% . ZNF133 1983 100% . ZNF134 1292 100% . ZNF135 2130 100% . ZNF136 1639 100% . ZNF138 1121 100% . ZNF14 2335 100% . ZNF140 1390 61% . ZNF141 1441 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:628

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF142 5092 100% . ZNF143 2070 100% . ZNF146 883 100% . ZNF148 2409 100% . ZNF154 1326 97% . ZNF155 1633 100% . ZNF157 1537 100% . ZNF16 2060 100% . ZNF160 2473 100% . ZNF165 1470 100% . ZNF167 2309 99% . ZNF169 1953 100% . ZNF17 2001 100% . ZNF174 1320 100% . ZNF175 2152 100% . ZNF177 1466 81% . ZNF18 1674 100% . ZNF180 2104 100% . ZNF181 1732 100% . ZNF182 1955 96% . ZNF184 2276 100% . ZNF185 2436 97% . ZNF187 5 0% . ZNF189 1893 100% . ZNF19 1393 100% . ZNF192 1771 100% . ZNF193 1374 87% . ZNF195 1934 92% . ZNF197 3149 100% . ZNF2 1336 100% . ZNF20 1628 100% . ZNF200 1204 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:629

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF202 1971 100% . ZNF205 1689 100% . ZNF207 1542 100% . ZNF208 3472 100% . ZNF211 1750 100% . ZNF212 1637 91% . ZNF213 1400 100% . ZNF214 1829 100% . ZNF215 1574 100% . ZNF217 3163 100% . ZNF219 2185 83% . ZNF22 679 100% . ZNF221 1870 100% . ZNF222 1511 97% . ZNF223 1465 100% . ZNF224 2140 100% . ZNF225 2137 100% . ZNF226 2482 100% . ZNF227 2416 100% . ZNF229 2494 100% . ZNF23 1944 100% . ZNF230 1441 100% . ZNF232 1351 100% . ZNF233 2127 100% . ZNF234 2119 100% . ZNF235 2237 100% . ZNF236 5662 99% . ZNF238 1604 100% . ZNF239 1381 100% . ZNF24 1119 100% . ZNF248 1756 100% . ZNF25 1391 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:630

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF250 1730 100% . ZNF251 2032 100% . ZNF253 1516 100% . ZNF254 1996 100% . ZNF256 1896 98% . ZNF257 1708 100% . ZNF259 1436 95% . ZNF26 1624 0% . ZNF260 1 0% . ZNF263 2076 100% . ZNF264 1900 100% . ZNF266 1666 100% . ZNF267 2248 100% . ZNF268 3026 96% . ZNF273 1726 100% . ZNF274 1989 100% . ZNF275 1305 100% . ZNF276 1889 89% . ZNF277 1479 100% . ZNF28 2169 100% . ZNF280A 1633 100% . ZNF280B 1636 100% . ZNF280C 2286 100% . ZNF280D 3020 100% . ZNF281 2692 94% . ZNF282 2048 85% . ZNF283 2079 94% . ZNF284 1798 100% . ZNF285 1785 100% . ZNF286A 1586 100% . ZNF286B 4 0% . ZNF287 2306 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:631

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF292 8204 99% . ZNF295 3205 100% . ZNF296 1440 100% . ZNF3 1486 100% . ZNF30 1891 100% . ZNF300 1891 100% . ZNF302 1288 100% . ZNF304 1992 100% . ZNF311 2061 98% . ZNF317 1850 95% . ZNF318 6880 94% . ZNF319 1753 100% . ZNF32 830 100% . ZNF320 1542 100% . ZNF322 1213 85% . ZNF323 1233 100% . ZNF324 1674 100% . ZNF324B 1855 100% . ZNF326 1857 99% . ZNF329 1630 100% . ZNF330 1000 100% . ZNF331 1404 100% . ZNF333 2042 100% . ZNF334 2112 100% . ZNF335 4187 100% . ZNF337 2272 100% . ZNF33A 2452 100% . ZNF33B 2353 100% . ZNF34 1729 99% . ZNF341 2625 99% . ZNF343 1816 100% . ZNF345 1471 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:632

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF346 961 85% . ZNF347 2539 100% . ZNF35 1596 100% . ZNF350 1615 100% . ZNF354A 1834 100% . ZNF354B 1855 99% . ZNF354C 1681 100% . ZNF358 1711 85% . ZNF362 1295 91% . ZNF365 2153 100% . ZNF366 2251 100% . ZNF367 1073 80% . ZNF37A 1702 100% . ZNF382 1665 100% . ZNF383 1444 100% . ZNF384 1953 100% . ZNF385A 1193 74% . ZNF385B 1478 100% . ZNF385C 1298 88% . ZNF385D 1220 100% . ZNF391 1081 100% . ZNF394 1698 100% . ZNF395 1578 100% . ZNF396 1119 100% . ZNF397 2667 100% . ZNF398 1953 99% . ZNF404 1661 100% . ZNF407 6889 100% . ZNF408 2184 100% . ZNF41 2396 99% X‐Linked Mental Retardation 89 ZNF410 1643 90% . ZNF414 1219 66% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:633

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF415 1681 100% . ZNF416 1801 99% . ZNF417 1740 98% . ZNF418 2043 100% . ZNF419 1561 100% . ZNF420 2079 100% . ZNF423 3887 100% . ZNF425 2341 100% . ZNF426 1689 100% . ZNF428 2944 36% . ZNF429 2041 100% . ZNF43 2446 100% . ZNF430 1733 100% . ZNF431 1751 100% . ZNF432 1975 100% . ZNF433 2038 100% . ZNF434 1529 100% . ZNF436 1425 100% . ZNF438 2511 100% . ZNF439 1512 100% . ZNF44 2012 100% . ZNF440 1813 100% . ZNF441 2098 100% . ZNF442 1900 100% . ZNF443 2036 100% . ZNF444 996 71% . ZNF445 3128 100% . ZNF446 1575 100% . ZNF449 1714 100% . ZNF45 2065 100% . ZNF451 3302 97% . ZNF454 1585 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:634

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF460 1701 100% . ZNF461 1700 96% . ZNF462 7841 100% . ZNF467 2151 83% . ZNF468 1581 100% . ZNF469 11786 1% . ZNF470 2283 100% . ZNF471 1897 100% . ZNF473 2632 100% . ZNF474 1099 100% . ZNF479 1591 100% . ZNF48 1865 96% . ZNF480 1643 100% . ZNF483 2434 100% . ZNF484 2575 100% . ZNF485 1342 100% . ZNF486 1408 100% . ZNF488 1027 100% . ZNF490 1610 100% . ZNF491 1318 100% . ZNF492 1608 100% . ZNF493 2404 98% . ZNF496 1792 100% . ZNF497 1501 98% . ZNF498 1659 100% . ZNF500 1463 96% . ZNF501 820 100% . ZNF502 1643 100% . ZNF503 2261 82% . ZNF506 1351 100% . ZNF507 2882 100% . ZNF510 2123 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:635

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF511 892 88% . ZNF512 1760 100% . ZNF512B 2743 93% . ZNF513 1642 100% . ZNF514 1221 100% . ZNF516 3513 100% . ZNF517 1495 98% . ZNF518A 4048 100% . ZNF518B 3229 100% . ZNF519 1635 100% . ZNF521 3964 99% . ZNF524 799 100% . ZNF526 2017 100% . ZNF527 1850 100% . ZNF528 1903 100% . ZNF529 1691 100% . ZNF530 1812 99% . ZNF532 3938 100% . ZNF534 2041 100% . ZNF536 3919 100% . ZNF540 1999 100% . ZNF541 4158 74% . ZNF543 1819 100% . ZNF544 2164 100% . ZNF546 2531 100% . ZNF547 1221 100% . ZNF548 1654 100% . ZNF549 1939 100% . ZNF550 1154 100% . ZNF551 2025 100% . ZNF552 1236 100% . ZNF554 1637 97% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:636

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF555 1903 100% . ZNF556 1387 100% . ZNF557 1317 100% . ZNF558 1233 100% . ZNF559 1637 100% . ZNF559‐ZNF177 1467 81% . ZNF560 2405 100% . ZNF561 1512 100% . ZNF562 1301 100% . ZNF563 1447 100% . ZNF564 1678 100% . ZNF565 1579 100% . ZNF566 1276 100% . ZNF567 1947 100% . ZNF568 3521 100% . ZNF569 2077 100% . ZNF57 1684 100% . ZNF570 1627 100% . ZNF571 1842 100% . ZNF572 1598 100% . ZNF573 2095 94% . ZNF574 2715 100% . ZNF575 832 90% . ZNF576 521 100% . ZNF577 1474 100% . ZNF578 3 0% . ZNF579 1693 41% . ZNF580 523 86% . ZNF581 598 100% . ZNF582 1570 100% . ZNF583 1726 100% . ZNF584 1677 82% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:637

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF585A 2250 100% . ZNF585B 2326 100% . ZNF586 1367 86% . ZNF587 1740 100% . ZNF589 1111 100% . ZNF592 3836 100% . ZNF593 507 86% . ZNF594 3365 100% . ZNF595 6 0% . ZNF596 1535 100% . ZNF597 1287 100% . ZNF598 2866 92% . ZNF599 1783 99% . ZNF600 2173 100% . ZNF605 2035 34% . ZNF606 2403 100% . ZNF607 2107 100% . ZNF608 4575 100% . ZNF609 4517 98% . ZNF610 1405 100% . ZNF611 2130 100% . ZNF613 1870 100% . ZNF614 1774 100% . ZNF615 2249 98% . ZNF616 2358 100% . ZNF618 2645 99% . ZNF619 1893 97% . ZNF620 1285 100% . ZNF621 1336 92% . ZNF622 1458 100% . ZNF623 1615 100% . ZNF624 2618 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:638

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF625 1144 100% . ZNF626 1660 100% . ZNF627 1402 100% . ZNF628 3172 81% . ZNF629 2618 100% . ZNF630 1990 100% . ZNF638 6246 100% . ZNF639 1474 100% . ZNF641 1444 100% . ZNF642 1601 100% . ZNF643 1759 100% . ZNF644 4011 100% . ZNF645 1282 100% . ZNF646 5620 100% . ZNF648 1711 100% . ZNF649 1534 100% . ZNF652 1841 100% . ZNF653 1884 83% . ZNF654 1754 100% . ZNF655 2039 100% . ZNF658 3196 97% . ZNF660 1000 100% . ZNF662 1484 94% . ZNF664 790 100% . ZNF664‐FAM101A 452 100% . ZNF665 2049 100% . ZNF667 1908 100% . ZNF668 1869 100% . ZNF669 1411 100% . ZNF670 1186 100% . ZNF671 1688 100% . ZNF672 1363 87% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:639

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF673 721 93% . ZNF674 1762 100% ZNF674‐Related X‐linked Mental Retardation ZNF675 1723 100% . ZNF676 1779 100% . ZNF677 1767 100% . ZNF678 1759 94% . ZNF679 1252 100% . ZNF680 1732 100% . ZNF681 1954 100% . ZNF682 1513 100% . ZNF683 1546 100% . ZNF684 1153 100% . ZNF687 3844 99% . ZNF688 1001 97% . ZNF689 1515 100% . ZNF69 1723 100% . ZNF691 983 100% . ZNF692 1623 99% . ZNF695 1701 94% . ZNF696 1133 94% . ZNF697 1667 90% . ZNF699 1949 100% . ZNF7 2110 100% . ZNF70 1345 100% . ZNF700 2245 100% . ZNF701 1434 100% . ZNF703 1781 62% . ZNF704 1271 100% . ZNF705A 923 100% . ZNF705D 923 40% . ZNF705G 923 100% . ZNF706 239 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:640

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF707 1132 100% . ZNF708 1708 100% . ZNF709 1942 100% . ZNF71 1474 100% . ZNF710 2011 100% . ZNF711 2314 100% ZNF711‐Related X‐linked Mental Retardation ZNF713 1309 100% . ZNF714 1677 99% . ZNF716 1504 100% . ZNF717 2761 14% . ZNF718 4 0% . ZNF720 794 97% . ZNF721 2873 100% . ZNF726 1852 100% . ZNF727 4 0% . ZNF729 3510 100% . ZNF732 1767 100% . ZNF735 4 0% . ZNF736 1300 100% . ZNF737 1621 100% . ZNF74 1955 100% . ZNF740 606 100% . ZNF746 1966 91% . ZNF747 584 98% . ZNF749 2349 100% . ZNF750 2180 100% . ZNF75A 903 100% . ZNF75D 1553 100% . ZNF76 2080 99% . ZNF761 4 0% . ZNF763 1210 100% . ZNF764 1239 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:641

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF765 1584 100% . ZNF766 1446 100% . ZNF768 1631 100% . ZNF77 1654 100% . ZNF770 2080 100% . ZNF771 962 53% . ZNF772 1510 100% . ZNF773 1414 100% . ZNF774 1464 100% . ZNF775 1622 88% . ZNF776 1586 100% . ZNF777 2876 99% . ZNF778 2298 100% . ZNF780A 2124 100% . ZNF780B 2518 100% . ZNF781 988 100% . ZNF782 2116 100% . ZNF783 1665 98% . ZNF784 980 85% . ZNF785 1256 100% . ZNF786 2365 100% . ZNF787 1160 74% . ZNF789 1377 100% . ZNF79 1517 100% . ZNF790 1927 100% . ZNF791 1747 100% . ZNF792 1915 99% . ZNF793 1237 100% . ZNF799 1948 100% . ZNF8 1985 85% . ZNF80 826 100% . ZNF800 2015 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:642

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF804A 3646 100% . ZNF804B 4069 100% . ZNF805 1900 99% . ZNF808 2724 100% . ZNF81 2035 100% X‐Linked Mental Retardation 45 ZNF812 1381 100% . ZNF813 1866 100% . ZNF814 2580 99% . ZNF816 1968 100% . ZNF816‐ZNF321P 697 100% . ZNF821 1263 90% . ZNF823 1849 100% . ZNF827 3296 100% . ZNF829 7 0% . ZNF83 1555 100% . ZNF830 1123 100% . ZNF831 5054 100% . ZNF835 1665 100% . ZNF836 2823 100% . ZNF837 1600 53% . ZNF839 2822 90% . ZNF84 2237 0% . ZNF841 2791 100% . ZNF843 1051 62% . ZNF844 2017 100% . ZNF845 2925 100% . ZNF846 1622 100% . ZNF85 1844 98% . ZNF850 1410 100% . ZNF853 3 0% . ZNF860 1903 100% . ZNF862 3542 99% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:643

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZNF865 1327 22% . ZNF878 1606 100% . ZNF879 1708 73% . ZNF880 1750 99% . ZNF883 1 0% . ZNF90 1822 100% . ZNF91 3592 100% . ZNF92 1777 100% . ZNF93 1879 100% . ZNF98 1735 100% . ZNF99 2545 100% . ZNFX1 5840 100% . ZNHIT1 485 100% . ZNHIT2 1216 95% . ZNHIT3 528 100% . ZNHIT6 1453 100% . ZNRD1 425 93% . ZNRF1 700 66% . ZNRF2 745 47% . ZNRF3 2544 100% . ZNRF4 1294 100% . ZP1 1965 100% . ZP2 2314 100% . ZP3 1343 100% . ZP4 1671 100% . ZPBP 1189 86% . ZPBP2 1049 100% . ZPLD1 1340 100% . ZRANB1 2163 100% . ZRANB2 1071 100% . ZRANB3 3320 100% . ZRSR2 1493 98% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:644

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZSCAN1 1410 100% . ZSCAN10 2198 98% . ZSCAN12 1706 100% . ZSCAN16 1059 100% . ZSCAN18 1729 96% . ZSCAN2 1943 100% . ZSCAN20 3180 100% . ZSCAN21 1468 100% . ZSCAN22 1484 100% . ZSCAN23 1182 100% . ZSCAN29 2579 100% . ZSCAN30 1545 100% . ZSCAN4 1314 100% . ZSCAN5A 1507 100% . ZSCAN5B 1504 100% . ZSWIM1 1462 100% . ZSWIM2 2019 100% . ZSWIM3 2099 100% . ZSWIM4 3022 94% . ZSWIM5 3614 97% . ZSWIM6 3704 64% . ZSWIM7 914 58% . ZUFSP 1773 100% . ZW10 2404 100% . ZWILCH 1848 100% . ZWINT 907 100% . ZXDA 2404 91% . ZXDB 2416 91% . ZXDC 2623 84% . ZYG11A 2336 98% . ZYG11B 2291 99% . ZYX 1755 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:645

Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM)

ZZEF1 9286 98% . ZZZ3 2756 100% .