Sample Gene SangerCall Type Transcript CHR EvaluatedPosition POS REF ALT Zygosity SiteID D69367 PABPC3 c.999delA del ENST00000281589 13 25671332 25671332 CA C heterozygous 1 L75319 BTNL2 c.451delC del ENST00000468270 6 32370969 32370969 TG T heterozygous 2 L66742 DPY19L1 c.1435_1436delAT del ENST00000310974 7 34981410 34981410 CAT C heterozygous 3 L76738 PSG6 c.262_263insGAA_p.Gln87_Ile88insArg ins ENST00000292125 19 43420441 43420441 A ATTC heterozygous 4 L86963 FOXO3 c.1143dupG ins ENST00000406360 6 108985178 108985178 G GG heterozygous 5 L84221 IGSF3 c.3117_3119dupGGA_p.Glu1039dup ins ENST00000369483 1 117122310 117122288 G GTCC heterozygous 6 L57299 FANCD2 No bs ENST00000287647 3 10127495 7 L57299 FANCD2 No bs ENST00000287647 3 10140403 8 D91936 POTEH No bs ENST00000343518 22 16287784 9 L50982 AGR3 No bs ENST00000310398 7 16918134 10 L57299 PARP4 No bs ENST00000381989 13 25016103 11 L124311 PARP4 c.3285_3285+5delinsAGT complex ENST00000381989 13 25021149 25021149 CTTACC ACT homozygous 12 D77356 PARP4 c.3285_3285+5delinsAGT complex ENST00000381989 13 25021149 25021149 CTTACC ACT homozygous 13 D56468 PARP4 c.3285_3285+5delinsAGT complex ENST00000381989 13 25021149 25021149 CTTACC ACT homozygous 14 L115230 PARP4 c.3285_3285+5delinsAGT complex ENST00000381989 13 25021149 25021149 CTTACC ACT homozygous 15 L64481 PARP4 No bs ENST00000381989 13 25026552 16 L2481 PARP4 No bs ENST00000381989 13 25068706 17 L95984 CHEK2 No bs ENST00000328354 22 29085205 18 L60025 BRCA2 No bs ENST00000380152 13 32911143 19 L17783 ZNF221 No bs ENST00000251269 19 44469101 20 L52122 SPG11 No bs ENST00000261866 15 44944106 21 L17783 FANCM No bs ENST00000267430 14 45605580 22 L47646 FANCM No bs ENST00000267430 14 45623246 23 D81625 SIRPA No indel ENST00000358771 20 1895963 24 D68566 ACTRT2 c.163_165delAAG_p.Lys55del del ENST00000378404 1 2938407 2938407 CAGA C heterozygous 25 L92388 SKA3 No indel ENST00000314759 13 21746643 26 L84221 SLC39A14 No indel ENST00000381237 8 22262228 27 l17193 BRCA2 No indel ENST00000380152 13 32911391 28 T81996 EPDR1 c.-256_-244del13 del ENST00000199448 7 37960286 37960262 AAGGCAGTGGCAGC A heterozygous 29 L75319 ZNF233 c.1983_1986delinsATA complex ENST00000391958 19 44778799 44778796 GTTG ATA homozygous 30 L80559 MTMR2 No indel ENST00000346299 11 95583026 31 D93615 MTMR2 No indel ENST00000346299 11 95598840 32 L85802 PKD2L1 No indel ENST00000318222 10 102057340 33 L76738 OVGP1 c.1598_1621del24_p.Thr533_Val540del del ENST00000369732 1 111957528 111957501 CTCACAGACTGATGACTCACAGGGG C heterozygous 34 L45377 ZNF714 No indel ENST00000291770 19 21299777 35 D69066 SKA3 No indel ENST00000314759 13 21732265 36 L2481 PARP4 No indel ENST00000381989 13 25067829 37 L92388 TYRO3 No indel ENST00000263798 15 41865664 38 L84221 MAN2C1 No indel ENST00000267978 15 75651050 39 L80559 MTMR2 No indel ENST00000346299 11 95591797 40 D64976 NFKBIZ c.1935+4_1935+5insTTTTAGAAAGCTTTAATAACCAC ins ENST00000326172 3 101576023 101576029 T TACTTTTAGAAAGCTTTAATAACC heterozygous 41 D69066 MUC13 No indel ENST00000311075 3 124646705 42 D77197 BCLAF1 No indel ENST00000531224 6 136582254 43 D68566 BCLAF1 No indel ENST00000531224 6 136582614 44 L84221 LCE4A c.143_144insCTGTAGCTCTGGGGGCTG_p.Cys48_Gly49insCysSerSerGlyGlyCys ins ENST00000368777 1 152681680 152681680 C CAGCTCTGGGGGCTGCTGT homozygous 45 L84221 RPH3AL No bs ENST00000323434 17 177327 46 L75319 SLC22A18 No bs ENST00000380574 11 2943788 47 L82403 FANCD2 No bs ENST00000287647 3 10077970 48 L75319 DNMT1 No bs ENST00000359526 19 10265393 49 L53053 TSG101 No bs ENST00000251968 11 18524118 50 L52477 USP48 No bs ENST00000308271 1 22013702 51 L45377 FLT1 No bs ENST00000282397 13 28959048 52 L91951 AIF1 No bs ENST00000376059 6 31583361 53 L45377 BRD2 No bs ENST00000395289 6 32946109 54 L91951 FANCE No bs ENST00000229769 6 35428397 55 L75319 WDR62 No bs ENST00000401500 19 36587983 56 L75319 TUBGCP4 No bs ENST00000260383 15 43690307 57 L52477 ADARB1 No bs ENST00000539173 21 46602498 58 L75319 PRMT1 No bs ENST00000454376 19 50187328 59 L84221 ZMYM3 No bs ENST00000353904 X 70468286 60 L45377 CD109 No bs ENST00000287097 6 74533194 61 L84221 TMC8 No bs ENST00000318430 17 76134084 62 L75319 CMYA5 No bs ENST00000446378 5 79048619 63 L75319 KLHDC4 No bs ENST00000270583 16 87743261 64 L45377 EIF2AK3 No bs ENST00000303236 2 88895183 65 L52477 COL10A1 No bs ENST00000327673 6 116441231 66 L75291 TRAF2 No bs ENST00000247668 9 139818329 67 L75319 CXorf40A No bs ENST00000441248 X 148627388 68 L45377 LPAL2 No bs ENST00000335388 6 160908455 69 L45377 TFRC No bs ENST00000360110 3 195800980 70 L45377 IPO9 No bs ENST00000361565 1 201840408 71 L53053 TRAF5 No bs ENST00000261464 1 211545690 72 L75319 DOCK10 No bs ENST00000258390 2 225651818 73 L45377 PAPOLA No indel ENST00000216277 14 96994296 74 L92388 ZNF141 No indel ENST00000240499 4 338197 75 L74809 MRPL28 No indel ENST00000199706 16 419999 76 D77197 PTDSS2 No indel ENST00000308020 11 490478 77 L76738 PDDC1 No indel ENST00000319863 11 771383 78 L75319 HEATR2 No indel ENST00000297440 7 814722 79 D81625 SAMD11 No indel ENST00000342066 1 866447 80 L52477 DMRT1 No indel ENST00000382276 9 916909 81 D81625 ABR No indel ENST00000302538 17 975954 82 L86963 SSTR5 No indel ENST00000293897 16 1129462 83 L66742 SIRPA No indel ENST00000358771 20 1895793 84 L84221 PRKCZ No indel ENST00000378567 1 2103806 85 D93615 PFKP No indel ENST00000381125 10 3175397 86 D93615 OR52R1 No indel ENST00000356069 11 4824705 87 L45377 TRMT6 No indel ENST00000203001 20 5919318 88 L92388 ESPN No indel ENST00000377828 1 6488385 89 L75291 TAS1R1 No indel ENST00000333172 1 6638842 90 T81996 GRM7 No indel ENST00000357716 3 7721881 91 D93615 CAMTA1 No indel ENST00000303635 1 7724452 92 L45377 PFAS No indel ENST00000314666 17 8168392 93 L84221 ST5 No indel ENST00000534127 11 8719125 94 L74809 CCDC165 No indel ENST00000359865 18 8793010 95 L52470 RAD18 No indel ENST00000264926 3 8983267 96 L52477 WDR16 No indel ENST00000352665 17 9536338 97 L92388 TNFRSF8 No indel ENST00000263932 1 12170170 98 D81625 MAN2B1 No indel ENST00000456935 19 12767769 99 L52477 CELA2A No indel ENST00000359621 1 15798504 100 T81996 ADORA2B No indel ENST00000304222 17 15878538 101 L52477 CUBN No indel ENST00000377833 10 17142200 102 L45377 ADAMTSL1 No indel ENST00000380548 9 18680349 103 L52477 RPS15A No indel ENST00000322989 16 18799453 104 D81625 MAU2 No indel ENST00000392313 19 19459987 105 L75319 ULK2 No indel ENST00000395544 17 19685286 106 T81996 MPHOSPH8 No indel ENST00000361479 13 20237200 107 L92388 SKA3 No indel ENST00000314759 13 21736014 108 L75291 TOP3B No indel ENST00000398793 22 22317174 109 L84221 KIAA0319 No indel ENST00000378214 6 24596271 110 L74264 IPO4 No indel ENST00000354464 14 24653308 111 D93615 IPO4 No indel ENST00000354464 14 24656323 112 L84221 PABPC3 No indel ENST00000281589 13 25671272 113 D69066 PABPC3 No indel ENST00000281589 13 25671274 114 D81625 TMEM50A No indel ENST00000374358 1 25678172 115 L86963 ATP8A2 No indel ENST00000381655 13 26153947 116 L67322 EXTL1 No indel ENST00000374280 1 26349545 117 L84221 EXTL1 No indel ENST00000374280 1 26361472 118 T81996 LGR4 No indel ENST00000379214 11 27390232 119 L82403 ARNTL2 No indel ENST00000266503 12 27555578 120 L45377 GABBR1 No indel ENST00000377034 6 29588942 121 L75291 HLA-A No indel ENST00000396634 6 29912398 122 D93615 NR0B1 No indel ENST00000378970 X 30326440 123 L84221 MDC1 No indel ENST00000376406 6 30681101 124 L75291 SF3A1 No indel ENST00000215793 22 30742327 125 L52477 WRN No indel ENST00000298139 8 31030598 126 L92388 SMTN No indel ENST00000358743 22 31484071 127 L74264 ABHD16A No indel ENST00000395952 6 31660816 128 L66742 EPC1 No indel ENST00000263062 10 32575638 129 L52477 DMD No indel ENST00000357033 X 32662393 130 L76738 HLA-DPB1 No indel ENST00000418931 6 33054013 131 L84221 SYNGAP1 No indel ENST00000418600 6 33410717 132 L52932 PRSS3 No indel ENST00000361005 9 33799093 133 L84221 SPDEF No indel ENST00000374037 6 34507028 134 L75319 ITSN1 No indel ENST00000381318 21 35195813 135 L80559 ITSN1 No indel ENST00000381318 21 35195849 136 L76738 TBX20 No indel ENST00000408931 7 35288322 137 L52477 NCDN No indel ENST00000373243 1 36023817 138 L45377 MYH9 No indel ENST00000216181 22 36696947 139 D77197 ITGA9 No indel ENST00000264741 3 37725392 140 L86963 WIPF2 No indel ENST00000323571 17 38430126 141 D93615 ATL2 No indel ENST00000378954 2 38540295 142 L66742 CNTNAP3 No indel ENST00000297668 9 39118204 143 D68566 KRTAP1-3 c.90_119dup30_p.Glu31_Cys40dup ins ENST00000344363 17 39190954 39190954 G GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA homozygous 144 L84221 CBX7 No indel ENST00000216133 22 39530470 145 L75291 SMCR7L No indel ENST00000325301 22 39909749 146 D93615 OXCT2 No indel ENST00000327582 1 40235451 147 L92388 PAK6 No indel ENST00000560346 15 40564786 148 L45377 CNTD1 No indel ENST00000315066 17 40958707 149 L52477 DHX8 No indel ENST00000262415 17 41598249 150 L84221 TYRO3 No indel ENST00000263798 15 41866014 151 D77197 CNPY3 No indel ENST00000372836 6 42906417 152 L52477 CEACAM1 No indel ENST00000161559 19 43013256 153 L66742 PSG3 No indel ENST00000327495 19 43243218 154 L60250 PSG8 No indel ENST00000306511 19 43269705 155 L84221 ZNF318 No indel ENST00000361428 6 43306993 156 L66742 DLK2 No indel ENST00000357338 6 43420763 157 D93615 NPC1L1 No indel ENST00000289547 7 44556441 158 L45377 NCOA5 No indel ENST00000290231 20 44708024 159 T81996 SLC13A3 No indel ENST00000279027 20 45224849 160 L75319 DUOX2 No indel ENST00000389039 15 45397969 161 D64976 SYMPK No indel ENST00000245934 19 46334787 162 T81996 CXXC1 No indel ENST00000412036 18 47812274 163 L74809 C7orf69 No indel ENST00000258776 7 47849089 164 L66742 ITGA3 No indel ENST00000007722 17 48141495 165 L84221 PLXNB1 No indel ENST00000358536 3 48456738 166 L60250 N4BP1 No indel ENST00000262384 16 48595353 167 L67322 GRIPAP1 No indel ENST00000376441 X 48841734 168 L84221 CACNA1F No indel ENST00000376265 X 49076190 169 L52932 CCDC22 No indel ENST00000376227 X 49106180 170 L45377 CDADC1 No indel ENST00000251108 13 49833509 171 L75319 AGAP6 No indel ENST00000374056 10 51748681 172 L76738 C18orf26 No indel ENST00000321600 18 52265135 173 L92388 C18orf26 No indel ENST00000321600 18 52265139 174 L45377 CACNA1D No indel ENST00000288139 3 53810650 175 D64976 TSPYL6 No indel ENST00000317802 2 54482709 176 L45377 C20orf43 No indel ENST00000023939 20 55059196 177 L52477 EFCAB3 No indel ENST00000450662 17 60493660 178 L84221 VWCE No indel ENST00000335613 11 61026269 179 T81996 GMEB2 No indel ENST00000266068 20 62236142 180 D93615 ARHGEF9 No indel ENST00000253401 X 62863875 181 L84221 ESRRA No indel ENST00000405666 11 64083295 182 L45377 CACHD1 No indel ENST00000290039 1 65146992 183 L85802 IGDCC4 No indel ENST00000352385 15 65703496 184 L84221 IGDCC4 No indel ENST00000352385 15 65703500 185 T81996 CD226 No indel ENST00000280200 18 67563002 186 L52932 NOB1 No indel ENST00000268802 16 69782977 187 L92388 FAM136A No indel ENST00000037869 2 70524511 188 D69367 VAC14 No indel ENST00000261776 16 70796864 189 L52477 TSPAN15 No indel ENST00000373290 10 71264243 190 L45377 AMBN No indel ENST00000322937 4 71465271 191 D93615 TNPO1 No indel ENST00000337273 5 72171481 192 L75319 TRPA1 No indel ENST00000262209 8 72965988 193 D64976 C10orf54 No indel ENST00000394957 10 73515164 194 L75319 MRPL48 No indel ENST00000310614 11 73575388 195 L86963 ISLR2 No indel ENST00000361742 15 74426762 196 L52477 LRRIQ3 No indel ENST00000354431 1 74540397 197 L52477 DCTN1 c.653_655delAGG_p.X_Xdel del ENST00000361874 2 74598293 74598293 CCCT C homozygous 198 L75319 MAGI2 No indel ENST00000354212 7 77885565 199 L52477 SCEL No indel ENST00000349847 13 78143515 200 L45377 PHIP No indel ENST00000275034 6 79688414 201 L86963 POLR3A No indel ENST00000372371 10 79739948 202 L85802 RPS24 No indel ENST00000440692 10 79796961 203 D93615 ELOVL4 No indel ENST00000369816 6 80626344 204 D64976 IL16 No indel ENST00000302987 15 81589269 205 L75319 PTCD3 No indel ENST00000254630 2 86333413 206 L60250 CNBD1 No indel ENST00000518476 8 88365936 207 D77197 TGIF2LX No indel ENST00000283891 X 89177562 208 L75319 GBP4 No indel ENST00000355754 1 89652102 209 L84221 ANKRD32 No indel ENST00000265140 5 94001566 210 L80559 MTMR2 No indel ENST00000346299 11 95590800 211 D93615 MTMR2 No indel ENST00000346299 11 95595531 212 T81996 PLCE1 No indel ENST00000260766 10 96064300 213 D93615 LAPTM4B No indel ENST00000445593 8 98827555 214 L92388 LAPTM4B No indel ENST00000445593 8 98837381 215 L60250 MEPCE No indel ENST00000310512 7 100028822 216 D68566 LNP1 No indel ENST00000383693 3 100170585 217 D64976 C4orf17 No indel ENST00000326581 4 100443784 218 L84221 PLOD3 No indel ENST00000223127 7 100859492 219 L86963 RGS22 No indel ENST00000360863 8 100990175 220 L52477 PABPC1 No indel ENST00000318607 8 101721935 221 L76738 PABPC1 No indel ENST00000318607 8 101730116 222 L52477 GNPTAB No indel ENST00000299314 12 102158676 223 D77197 TARSL2 No indel ENST00000335968 15 102224361 224 L52477 RELN No indel ENST00000428762 7 103301976 225 L52477 NFYB No indel ENST00000240055 12 104519890 226 L74809 C10orf26 No indel ENST00000448841 10 104572818 227 D64976 OR13C5 No indel ENST00000374779 9 107361448 228 L80559 ST6GAL2 No indel ENST00000409382 2 107459857 229 L52477 VAV3 No indel ENST00000370056 1 108292084 230 L52477 LEF1 No indel ENST00000265165 4 108999544 231 L45377 SLC22A16 No indel ENST00000368919 6 110763959 232 L84221 EPB41L4A No indel ENST00000261486 5 111500815 233 T81996 BCL2L11 No indel ENST00000393256 2 111881416 234 L45377 CBWD2 No indel ENST00000259199 2 114210737 235 T81996 PLS3 No indel ENST00000420625 X 114880470 236 D68566 AP3S1 No indel ENST00000316788 5 115202417 237 L75319 KIF12 No indel ENST00000374118 9 116858356 238 D93615 COL27A1 No indel ENST00000356083 9 116931395 239 L74809 CUL4B No indel ENST00000404115 X 119694116 240 L45377 ASTN2 No indel ENST00000361209 9 119976988 241 L84221 COL14A1 No indel ENST00000297848 8 121309768 242 L75319 PARP14 No indel ENST00000474629 3 122418454 243 T81996 ASB15 No indel ENST00000451558 7 123276903 244 L92388 MYLK No indel ENST00000360304 3 123419716 245 L45377 ZNF608 No indel ENST00000306315 5 124036933 246 L80559 KALRN No indel ENST00000240874 3 124044864 247 D64976 RABGAP1 No indel ENST00000373647 9 125861774 248 L52477 GCC1 No indel ENST00000321407 7 127224859 249 D69066 PTPRE No indel ENST00000254667 10 129875963 250 L75291 AKAP7 No indel ENST00000431975 6 131602791 251 L76738 PHYHD1 No indel ENST00000308941 9 131698744 252 L75291 ABL1 No indel ENST00000372348 9 133759489 253 D77197 CEP63 No indel ENST00000337090 3 134265007 254 T81996 RBMX No indel ENST00000320676 X 135956346 255 L86963 RBMX No indel ENST00000320676 X 135956575 256 D69367 BCLAF1 No indel ENST00000531224 6 136594326 257 D64976 BCLAF1 No indel ENST00000531224 6 136599909 258 D77197 BCLAF1 No indel ENST00000531224 6 136599914 259 D93615 PKD2L2 No indel ENST00000290431 5 137226179 260 L75319 MATR3 No indel ENST00000394805 5 138661125 261 L75319 PCDHGA3 No indel ENST00000253812 5 140725143 262 D69367 ANKRD34A No indel ENST00000323397 1 145473389 263 D77197 ANKRD35 No indel ENST00000355594 1 145562114 264 L67322 OTUD4 No indel ENST00000454497 4 146077122 265 L66742 CNTNAP2 No indel ENST00000361727 7 146471414 266 L60250 PDE6A No indel ENST00000255266 5 149324203 267 D77197 ULBP1 No indel ENST00000229708 6 150289805 268 D93615 BAGE4 No indel ENST00000540061 7 151970890 269 L66742 FLG No indel ENST00000368799 1 152276467 270 D69066 SPRR3 c.219_242del24_p.Cys98_Gly105del del ENST00000331860 1 152975658 152975658 AGAGCCAGGCTGTACCAAGGTCCCT A homozygous 271 T81996 GEMIN5 No indel ENST00000285873 5 154281013 272 L85802 RBM33 No indel ENST00000401878 7 155473504 273 L45377 RBM46 No indel ENST00000281722 4 155718997 274 L75319 FAM71B No indel ENST00000302938 5 156589489 275 L45377 FCRL3 No indel ENST00000368184 1 157659621 276 L74264 SYNJ2 No indel ENST00000355585 6 158517031 277 L67322 IGSF8 No indel ENST00000368086 1 160062486 278 L75291 PLA2R1 No indel ENST00000283243 2 160862201 279 T81996 USF1 No indel ENST00000368021 1 161012448 280 L67322 GPA33 No indel ENST00000367868 1 167024256 281 L52477 ODZ2 No indel ENST00000518659 5 167655137 282 L52932 SMOC2 No indel ENST00000354536 6 168999580 283 L84221 THBS2 No indel ENST00000366787 6 169628298 284 L45377 GALNT7 No indel ENST00000265000 4 174225158 285 D77197 CDHR2 No indel ENST00000510636 5 176002317 286 D93615 TBC1D9B No indel ENST00000356834 5 179290999 287 L92388 PRKRA No indel ENST00000325748 2 179306432 288 D77197 PRKRA No indel ENST00000325748 2 179309228 289 D77197 PRKRA No indel ENST00000325748 2 179315141 290 T81996 NPL No indel ENST00000367553 1 182785880 291 D93615 KLHL24 No indel ENST00000454652 3 183368194 292 T81996 MAP3K13 No indel ENST00000265026 3 185190827 293 L86963 SORBS2 No indel ENST00000431808 4 186544870 294 L45377 WDR75 No indel ENST00000314761 2 190327235 295 D64976 FRG1 No indel ENST00000226798 4 190883040 296 L45377 TFRC No indel ENST00000360110 3 195800980 297 L75319 RAPH1 No indel ENST00000319170 2 204305229 298 L75319 NFASC No indel ENST00000339876 1 204948572 299 L45377 CD55 No indel ENST00000314754 1 207510145 300 L53053 TRAF5 No indel ENST00000261464 1 211545690 301 L75319 NEK2 No indel ENST00000366999 1 211842581 302 L45377 DTL No indel ENST00000366991 1 212245449 303 T81996 PARP1 No indel ENST00000366794 1 226570786 304 L76738 IRS1 No indel ENST00000305123 2 227661395 305 L45377 GAL3ST2 No indel ENST00000192314 2 242738493 306 T81593 CNST No indel ENST00000366513 1 246810591 307 L111351 FANCD2 c.1588C>T_p.Arg530X bs ENST00000287647 3 10094113 10094113 C T heterozygous 308 L85802 ZNF491 c.451C>T_p.Arg151X bs ENST00000323169 19 11917219 11917219 C T heterozygous 309 L52932 ZNF433 c.1228C>T_p.Arg410X bs ENST00000344980 19 12126454 12126454 G A heterozygous 310 L50435 MCM10 c.595+1G>C bs ENST00000361282 10 13214766 13214766 G C heterozygous 311 L52477 ATXN3L c.76G>T_p.Glu26X bs ENST00000380622 X 13337978 13337978 C A heterozygous 312 L52932 CLCNKB c.1297+5G>T bs ENST00000375679 1 16378047 16378047 G T heterozygous 313 L95984 AGR3 c.340C>T_p.Gln114X bs ENST00000310398 7 16901035 16901035 G A heterozygous 314 L91951 AGR3 c.226+1G>A bs ENST00000310398 7 16902233 16902233 C T heterozygous 315 L82294 MTMR7 c.865+5A>G bs ENST00000180173 8 17188654 17188654 T C heterozygous 316 L105157 MIB1 c.1576C>T_p.Arg526X bs ENST00000261537 18 19395673 19395673 C T heterozygous 317 L60250 OTOA c.2359G>T_p.Glu787X bs ENST00000388958 16 21747639 21747639 G T heterozygous 318 L128126 PALB2 c.3549C>G_p.Tyr1183X bs ENST00000261584 16 23614792 23614792 G C heterozygous 319 L129228 PALB2 c.3549C>G_p.Tyr1183X bs ENST00000261584 16 23614792 23614792 G C heterozygous 320 D129031 PALB2 c.3256C>T_p.Arg1086X bs ENST00000261584 16 23619279 23619279 G A heterozygous 321 D131336 PALB2 c.3256C>T_p.Arg1086X bs ENST00000261584 16 23619279 23619279 G A heterozygous 322 D55764 PALB2 c.3256C>T_p.Arg1086X bs ENST00000261584 16 23619279 23619279 G A heterozygous 323 L106829 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 324 L84216 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 325 L102635 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 326 D107213 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 327 D119819 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 328 D115012 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 329 L121102 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 330 L124503 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 331 L131040 PALB2 c.3113G>A_p.Trp1038X bs ENST00000261584 16 23632683 23632683 C T heterozygous 332 L128750 PALB2 c.712A>T_p.Arg238X bs ENST00000261584 16 23647155 23647155 T A heterozygous 333 L97409 PALB2 c.424A>T_p.Lys142X bs ENST00000261584 16 23647443 23647443 T A heterozygous 334 D118402 PALB2 c.196C>T_p.Gln66X bs ENST00000261584 16 23649186 23649186 G A heterozygous 335 L45377 IL25 c.10C>T_p.Arg4X bs ENST00000329715 14 23842337 23842337 C T heterozygous 336 L75291 PARP4 c.3064G>T_p.Gly1022X bs ENST00000381989 13 25023906 25023906 C A heterozygous 337 D85393 PARP4 c.2815G>T_p.Glu939X bs ENST00000381989 13 25027736 25027736 C A heterozygous 338 D98923 PARP4 c.2047-2A>G bs ENST00000381989 13 25043250 25043250 T C heterozygous 339 D77245 PARP4 c.1215-2A>G bs ENST00000381989 13 25060445 25060445 T C heterozygous 340 L85802 OXSM c.1075G>T_p.Glu359X bs ENST00000280701 3 25835680 25835680 G T heterozygous 341 L92033 TAOK1 c.2544+5A>G bs ENST00000261716 17 27861323 27861323 A G heterozygous 342 D91936 CHEK2 c.529A>T_p.Lys177X bs ENST00000328354 22 29121028 29121028 T A heterozygous 343 L84221 BPIFB4 c.310C>T_p.Arg104X bs ENST00000375483 20 31671313 31671313 C T heterozygous 344 L74809 DYNC1LI1 c.1510C>T_p.Arg504X bs ENST00000273130 3 32568353 32568353 G A heterozygous 345 L32567 BRCA2 c.7976+5G>C bs ENST00000380152 13 32936835 32936835 G C heterozygous 346 L82403 ANKRD27 c.1421-1G>A bs ENST00000306065 19 33117734 33117734 C T heterozygous 347 L74809 DHX57 c.383+5A>C bs ENST00000295373 2 39090498 39090498 T G heterozygous 348 L67322 ATXN7L3 c.916+5G>A bs ENST00000454077 17 42271880 42271880 C T heterozygous 349 L45377 CHRNB3 c.1249C>T_p.Gln417X bs ENST00000289957 8 42591633 42591633 C T heterozygous 350 D91936 MCAT c.729+1G>T bs ENST00000290429 22 43533086 43533086 C A heterozygous 351 L75319 ZSCAN29 c.889C>T_p.Gln297X bs ENST00000396976 15 43658641 43658641 G A heterozygous 352 T81996 ZNF221 c.264G>A_p.Trp88X bs ENST00000251269 19 44469440 44469440 G A heterozygous 353 L56108 ZNF221 c.1549C>T_p.Gln517X bs ENST00000251269 19 44471203 44471203 C T heterozygous 354 D63963 ZNF221 c.1678C>T_p.Arg560X bs ENST00000251269 19 44471332 44471332 C T heterozygous 355 D42548 SPG11 c.6724C>T_p.Gln2242X bs ENST00000261866 15 44859652 44859652 G A heterozygous 356 L56108 SPG11 c.1085G>A_p.Trp362X bs ENST00000261866 15 44944060 44944060 C T heterozygous 357 L115658 SPG11 c.1085G>A_p.Trp362X bs ENST00000261866 15 44944060 44944060 C T heterozygous 358 L60344 SPG11 c.1085G>A_p.Trp362X bs ENST00000261866 15 44944060 44944060 C T heterozygous 359 L45377 C17orf57 c.1297A>T_p.Lys433X bs ENST00000331493 17 45452257 45452257 A T heterozygous 360 D79198 FANCM c.1972C>T_p.Arg658X bs ENST00000267430 14 45636336 45636336 C T heterozygous 361 L104701 FANCM c.4194T>G_p.Tyr1398X bs ENST00000267430 14 45646151 45646151 T G heterozygous 362 L50435 FANCM c.5101C>T_p.Gln1701X bs ENST00000267430 14 45658326 45658326 C T heterozygous 363 D43955 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 364 D82111 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 365 L104026 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 366 L55688 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 367 L63243 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 368 L66783 FANCM c.5791C>T_p.Arg1931X bs ENST00000267430 14 45667921 45667921 C T heterozygous 369 L67322 CORIN c.1357+5G>A bs ENST00000273857 4 47676405 47676405 C T heterozygous 370 L52932 CCDC11 c.1282G>T_p.Glu428X bs ENST00000398545 18 47765007 47765007 C A heterozygous 371 D91936 ABCC11 c.2813C>G_p.Ser938X bs ENST00000394747 16 48221232 48221232 G C heterozygous 372 L52470 MRPL37 c.643C>T_p.Arg215X bs ENST00000360840 1 54671080 54671080 C T heterozygous 373 L82293 GTSF1 c.16+1G>A bs ENST00000552397 12 54865016 54865016 C T heterozygous 374 L76315 C2orf63 c.1384+2T>A bs ENST00000401408 2 55407644 55407644 A T heterozygous 375 D91936 ZNF451 c.488G>A_p.Trp163X bs ENST00000370706 6 56997903 56997903 G A heterozygous 376 L92033 ZIM2 c.1513C>T_p.Arg505X bs ENST00000391708 19 57286127 57286127 G A heterozygous 377 L92033 SLC26A10 c.1483C>T_p.Arg495X bs ENST00000320442 12 58019202 58019202 C T heterozygous 378 L67322 PXK c.1465+5C>G bs ENST00000356151 3 58395891 58395891 C G heterozygous 379 L67322 ZNF544 c.1843C>T_p.Arg615X bs ENST00000269829 19 58773815 58773815 C T heterozygous 380 D116380 BRIP1 c.2392C>T_p.Arg798X bs ENST00000259008 17 59793412 59793412 G A heterozygous 381 L52470 INTS2 c.456+5A>G bs ENST00000444766 17 60002317 60002317 T C heterozygous 382 L84221 CA12 c.718C>T_p.Arg240X bs ENST00000178638 15 63632516 63632516 G A heterozygous 383 D91936 PRMT7 c.1056-1G>T bs ENST00000339507 16 68380047 68380047 G T heterozygous 384 T81593 UGT2A1 c.576T>A_p.Tyr192X bs ENST00000503640 4 70512787 70512787 A T heterozygous 385 L67322 FOLR1 c.493+2T>C bs ENST00000393679 11 71906793 71906793 T C heterozygous 386 L76315 PPEF2 c.1960C>T_p.Arg654X bs ENST00000286719 4 76785641 76785641 G A heterozygous 387 L52470 XRCC4 c.894-1G>A bs ENST00000511817 5 82648943 82648943 G A heterozygous 388 L75319 ME1 c.362+1G>A bs ENST00000369705 6 84108085 84108085 C T heterozygous 389 L125822 FANCA c.4260+5C>T bs ENST00000389301 16 89805285 89805285 G A heterozygous 390 D31441 FANCA c.3828+1G>C bs ENST00000389301 16 89807211 89807211 C G heterozygous 391 L65315 FANCA c.1378C>T_p.Arg460X bs ENST00000389301 16 89851354 89851354 G A heterozygous 392 L121054 FANCA c.1226-1G>C bs ENST00000389301 16 89857945 89857945 C G heterozygous 393 L73989 FANCA c.862G>T_p.Glu288X bs ENST00000389301 16 89865605 89865605 C A heterozygous 394 L67282 FANCA c.862G>T_p.Glu288X bs ENST00000389301 16 89865605 89865605 C A heterozygous 395 L74809 C7orf63 c.532+5A>C bs ENST00000389297 7 89897703 89897703 A C heterozygous 396 L85802 IFIT2 c.325C>T_p.Arg109X bs ENST00000371826 10 91066038 91066038 C T heterozygous 397 L60250 MTERF c.236T>G_p.Leu79X bs ENST00000351870 7 91503872 91503872 A C heterozygous 398 D69066 CCDC76 c.63C>G_p.Tyr21X bs ENST00000370141 1 100598787 100598787 C G heterozygous 399 D91936 VPS13B c.6732+1G>A bs ENST00000358544 8 100729602 100729602 G A heterozygous 400 L52470 NR1H4 c.-1G>T bs ENST00000548884 12 100887101 100887101 G T heterozygous 401 L67322 ZBTB11 c.1741C>T_p.Arg581X bs ENST00000312938 3 101383441 101383441 G A heterozygous 402 L106404 ATM c.497-1G>A bs ENST00000278616 11 108114679 108114679 G A heterozygous 403 L80585 ATM c.5623C>T_p.Arg1875X bs ENST00000278616 11 108175528 108175528 C T heterozygous 404 D114755 ATM c.7271T>G_p.Val2424Gly bs ENST00000278616 11 108199929 108199929 T G heterozygous 405 D116138 ATM c.7271T>G_p.Val2424Gly bs ENST00000278616 11 108199929 108199929 T G heterozygous 406 L42245 ATM c.7271T>G_p.Val2424Gly bs ENST00000278616 11 108199929 108199929 T G heterozygous 407 T81593 RGAG1 c.4126C>T_p.Gln1376X bs ENST00000465301 X 109698508 109698508 C T heterozygous 408 L52470 TPCN1 c.1669+5G>A bs ENST00000550785 12 113722581 113722581 G A heterozygous 409 L84221 ADPRH c.798G>A_p.Trp266X bs ENST00000478399 3 119306449 119306449 G A heterozygous 410 L75291 TRIM29 c.1386G>A_p.Trp462X bs ENST00000341846 11 119993711 119993711 C T heterozygous 411 D91936 FTMT c.436A>T_p.Lys146X bs ENST00000321339 5 121188094 121188094 A T heterozygous 412 L74809 ARGFX c.433C>T_p.Arg145X bs ENST00000334384 3 121304932 121304932 C T heterozygous 413 L74809 TMEM155 c.100C>T_p.Gln34X bs ENST00000337677 4 122682805 122682805 G A heterozygous 414 L67322 WDR67 c.2835+1G>T bs ENST00000287380 8 124154697 124154697 G T heterozygous 415 L50435 NUP205 c.3460+5G>C bs ENST00000285968 7 135300818 135300818 G C heterozygous 416 L45377 TMEM184C c.573-1G>C bs ENST00000296582 4 148550749 148550749 G C heterozygous 417 T81996 PASD1 c.2244C>G_p.Tyr748X bs ENST00000370357 X 150844537 150844537 C G heterozygous 418 L75319 TIMD4 c.845-2A>G bs ENST00000274532 5 156353325 156353325 T C heterozygous 419 T81593 ATP10B c.457C>T_p.Arg153X bs ENST00000327245 5 160113099 160113099 G A heterozygous 420 L52477 FAP c.1223+5G>C bs ENST00000188790 2 163059377 163059377 C G heterozygous 421 L82294 ZBBX c.273+1G>C bs ENST00000455345 3 167083673 167083673 C G heterozygous 422 L52932 C1orf105 c.341+1G>A bs ENST00000367727 1 172431386 172431386 G A heterozygous 423 T81996 USP13 c.1921+5C>T bs ENST00000263966 3 179472647 179472647 C T heterozygous 424 L50435 OBFC2A c.538C>T_p.Gln180X bs ENST00000425611 2 192550417 192550417 C T heterozygous 425 L74809 KDM5B c.2474+5G>T bs ENST00000367265 1 202711778 202711778 C A heterozygous 426 L75291 STK11IP c.978+1G>A bs ENST00000295641 2 220471013 220471013 G A heterozygous 427 L50435 SP100 c.2052+5T>C bs ENST00000340126 2 231372751 231372751 T C heterozygous 428 L45377 ECEL1 c.1059+1G>A bs ENST00000304546 2 233349510 233349510 C T heterozygous 429 L45377 NDUFA10 c.669+1G>C bs ENST00000252711 2 240954155 240954155 C G heterozygous 430 D69066 DEFB126 c.163_166delCAAA del ENST00000382398 20 126155 126155 GCAAA G heterozygous 431 D69367 DEFB126 c.317_318delCC del ENST00000382398 20 126310 126310 ACC A heterozygous 432 L67322 DEFB126 c.317_318delCC del ENST00000382398 20 126310 126310 ACC A heterozygous 433 L60250 DEFB132 c.20_25del6_p.Val7_Leu8del del ENST00000382376 20 238438 238435 CTGGTCT C heterozygous 434 L86963 ENOSF1 c.151_165del15_p.Thr51_Tyr55del del ENST00000340116 18 706560 706560 AGTAGTCAGGGTCCGT A heterozygous 435 L92388 TPSD1 c.127delG del ENST00000211076 16 1306559 1306559 AG A heterozygous 436 L92388 CCNL2 c.289-6_289-2del5 del ENST00000400809 1 1334052 1334052 CTAGAG C heterozygous 437 D64976 OR52D1 c.779_781delTCT_p.Phe260del del ENST00000322641 11 5510709 5510709 CCTT C heterozygous 438 L92388 FASTKD3 c.717_719delTAT_p.Ile240del del ENST00000264669 5 7867477 7867477 TATA T heterozygous 439 L86963 ERI1 c.*3_*5delACA del ENST00000523898 8 8887542 8887542 TAAC T homozygous 440 L53053 APITD1 c.170_171delAG del ENST00000556104 1 10494016 10494016 CAG C heterozygous 441 L45377 ATF7IP2 c.183_185delGAC_p.Thr62del del ENST00000396560 16 10524656 10524656 GGAC G heterozygous 442 T81996 ATF7IP2 c.183_185delGAC_p.Thr62del del ENST00000396560 16 10524656 10524656 GGAC G heterozygous 443 L76738 PRB2 c.154_156delTCT_p.Ser52del del ENST00000389362 12 11546855 11546855 GAGA G heterozygous 444 D68566 ZNF791 c.355_356delAT del ENST00000343325 19 12738697 12738697 CAT C heterozygous 445 D69367 CDRT15 c.560delG del ENST00000420162 17 14139176 14139179 GC G heterozygous 446 L92388 MPRIP c.2311+3delT del ENST00000395811 17 17075180 17075180 GT G heterozygous 447 L121054 MIB1 c.2670_2671delTG del ENST00000261537 18 19437092 19437092 CTG C heterozygous 448 L75319 PDZD9 c.279delT del ENST00000537222 16 21995923 21995923 CA C heterozygous 449 L50435 PDZD9 c.279delT del ENST00000537222 16 21995942 21995923 CA C heterozygous 450 D103457 PALB2 c.2727_2728delTT del ENST00000261584 16 23637576 23637576 TAA T heterozygous 451 L130502 PALB2 c.1317delG del ENST00000261584 16 23646549 23646549 AC A heterozygous 452 L113692 PALB2 c.886delA del ENST00000261584 16 23646980 23646980 AT A heterozygous 453 L132594 PALB2 c.172_175delTTGT del ENST00000261584 16 23649206 23649206 GACAA G heterozygous 454 D77166 PALB2 c.172_175delTTGT del ENST00000261584 16 23649206 23649206 GACAA G heterozygous 455 L52477 C7orf46 c.633delG del ENST00000344962 7 23731208 23731208 TG T heterozygous 456 D102245 PARP4 c.3649delG del ENST00000381989 13 25016000 25016000 TC T heterozygous 457 L75291 NPVF c.212_214delTTA_p.Ile71del del ENST00000222674 7 25266569 25266569 TTAA T heterozygous 458 L92388 NINL c.2872_2877del6_p.Trp958_Glu959del del ENST00000278886 20 25457049 25457049 GCTCCCA G homozygous 459 L52932 MTMR6 c.727-7_727-2del6 del ENST00000381801 13 25832831 25832831 CTAAAAT C heterozygous 460 T81593 DSG4 c.1388_1391delTATA del ENST00000359747 18 28980952 28980952 GATAT G heterozygous 461 L95795 CHEK2 c.1263delT del ENST00000328354 22 29091226 29091226 TA T heterozygous 462 L101924 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 463 L88625 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 464 L76315 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 465 L97754 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 466 L102521 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 467 L112692 CHEK2 c.1100delC del ENST00000328354 22 29091856 29091856 AG A heterozygous 468 L86025 CHEK2 c.846+4_846+7delAGTA del ENST00000328354 22 29105986 29105986 ATACT A heterozygous 469 L48419 CHEK2 c.846+4_846+7delAGTA del ENST00000328354 22 29105986 29105986 ATACT A heterozygous 470 D68566 ATAD5 c.861_866del6_p.Met287_Ser288del del ENST00000321990 17 29161955 29161955 ACAATGT A heterozygous 471 D69066 PSORS1C2 c.281delC del ENST00000259845 6 31105857 31105857 AG A heterozygous 472 L108671 BRCA2 c.755_758delACAG del ENST00000380152 13 32905123 32905123 TGACA T heterozygous 473 L74809 MYH7B c.5901_5903delCAA_p.Asn1967del del ENST00000262873 20 33589845 33589845 CCAA C heterozygous 474 L67322 DNAJC28 c.947_951del5 del ENST00000314399 21 34860749 34860749 CAATTA C heterozygous 475 L76738 SON c.7248delA del ENST00000356577 21 34948696 34948696 GA G homozygous 476 T81593 ZNF599 c.1014_1015delCT del ENST00000329285 19 35250690 35250690 TAG T heterozygous 477 L84221 ZNF599 c.563_564delAA del ENST00000329285 19 35251141 35251141 CTT C heterozygous 478 L76738 C6orf222 c.1744delC del ENST00000437635 6 36287311 36287311 AG A heterozygous 479 L85802 GPR179 c.4967delC del ENST00000342292 17 36484484 36484484 AG A heterozygous 480 L67322 GPR179 c.3656_3657delCT del ENST00000342292 17 36485794 36485794 CAG C heterozygous 481 L74809 CEBPZ c.3143_3145delAAA_p.Lys1048del del ENST00000234170 2 37428926 37428926 GTTT G heterozygous 482 D64976 SCN11A c.4113delC del ENST00000302328 3 38892185 38892185 TG T heterozygous 483 L76738 KRT36 c.1372_1374delTCC_p.Ser458del del ENST00000328119 17 39642657 39642657 TGGA T heterozygous 484 L82293 ENTHD1 c.1104_1105delTC del ENST00000325157 22 40161341 40161341 GGA G heterozygous 485 L74809 CARD6 c.88_89delTT del ENST00000254691 5 40841571 40841571 CTT C heterozygous 486 L74809 APOBEC2 c.547delG del ENST00000244669 6 41029480 41029480 AG A heterozygous 487 L76738 PSG6 c.136delT del ENST00000292125 19 43420567 43420567 GA G heterozygous 488 D69367 TP53TG5 c.289_291delAAT_p.Asn97del del ENST00000372726 20 44004155 44004155 CATT C homozygous 489 L85802 WFDC8 c.540delA del ENST00000357199 20 44181820 44181820 AT A heterozygous 490 L52475 ZNF221 c.76_79delTTCA del ENST00000251269 19 44466951 44466951 ACATT A heterozygous 491 D131336 ZNF221 c.76_79delTTCA del ENST00000251269 19 44466951 44466951 ACATT A heterozygous 492 L65600 ZNF221 c.487delA del ENST00000251269 19 44470139 44470139 TA T heterozygous 493 D59597 ZNF221 c.487delA del ENST00000251269 19 44470139 44470139 TA T heterozygous 494 L52475 ZNF221 c.1294delT del ENST00000251269 19 44470944 44470944 AT A heterozygous 495 D66874 ZNF221 c.1664_1670del7 del ENST00000251269 19 44471315 44471315 GGGTCCAC G heterozygous 496 L106404 ZNF221 c.1664_1670del7 del ENST00000251269 19 44471315 44471315 GGGTCCAC G heterozygous 497 D69078 ZNF221 c.1664_1670del7 del ENST00000251269 19 44471315 44471315 GGGTCCAC G heterozygous 498 L98341 ZNF221 c.1664_1670del7 del ENST00000251269 19 44471315 44471315 GGGTCCAC G heterozygous 499 D127567 ZNF221 c.1664_1670del7 del ENST00000251269 19 44471315 44471315 GGGTCCAC G heterozygous 500 L84221 SLC3A1 c.1136+3delT del ENST00000260649 2 44528267 44528267 GT G heterozygous 501 L59087 SPG11 c.6739_6742delGAGT del ENST00000261866 15 44859633 44859633 GACTC G heterozygous 502 L103448 SPG11 c.5456_5457delAG del ENST00000261866 15 44876420 44876420 GCT G heterozygous 503 L91655 SPG11 c.733_734delAT del ENST00000261866 15 44949427 44949427 CAT C heterozygous 504 D77504 SPG11 c.733_734delAT del ENST00000261866 15 44949427 44949427 CAT C heterozygous 505 D69066 CCR5 c.554_585del32 del ENST00000343801 3 46414943 46414943 TACAGTCAGTATCAATTCTGGAAGAATTTCCAG T heterozygous 506 L75319 CCR5 c.554_585del32 del ENST00000343801 3 46414943 46414943 TACAGTCAGTATCAATTCTGGAAGAATTTCCAG T heterozygous 507 L52932 TDRD6 c.2114_2116delAAG_p.Glu705del del ENST00000316081 6 46657976 46657976 GAGA G heterozygous 508 L67322 CYP4B1 c.884_885delAT del ENST00000371923 1 47280746 47280746 GAT G homozygous 509 L82294 LALBA c.164_165delAT del ENST00000301046 12 48962991 48962991 CAT C heterozygous 510 L76738 CWH43 c.1596delA del ENST00000226432 4 49034668 49034669 CA C heterozygous 511 D93615 CWH43 c.2088delA del ENST00000226432 4 49063892 49063892 CA C heterozygous 512 L92388 DHDH c.881_882delAG del ENST00000221403 19 49447748 49447748 GGA G heterozygous 513 L80559 MLNR c.999_1000delTC del ENST00000218721 13 49796268 49796268 TTC T heterozygous 514 L84221 COBL c.1443_1445delAGA_p.Glu481del del ENST00000265136 7 51098567 51098567 GTCT G homozygous 515 L52477 ZNF480 c.9_10delTG del ENST00000468240 19 52803669 52803669 CTG C homozygous 516 L76738 GZMA c.251delC del ENST00000274306 5 54403656 54403656 TC T heterozygous 517 D77197 FAM151A c.685_687delGAG_p.Glu229del del ENST00000302250 1 55078271 55078271 TCTC T heterozygous 518 L75319 ALPK2 c.3017_3031del15_p.Glu1006_Thr1010del del ENST00000361673 18 56204387 56204387 ACAGTTGATGTGTCCT A homozygous 519 L74809 ALPK2 c.3017_3031del15_p.Glu1006_Thr1010del del ENST00000361673 18 56204387 56204387 ACAGTTGATGTGTCCT A heterozygous 520 L50435 KIAA1586 c.263_264delCA del ENST00000370733 6 56917556 56917556 GAC G heterozygous 521 L84221 MYO1A c.106_108delGAG_p.Glu36del del ENST00000442789 12 57441999 57441999 TCTC T heterozygous 522 L52932 DUXA c.573delC del ENST00000554048 19 57665821 57665821 AG A heterozygous 523 L75319 GTPBP5 c.567delG del ENST00000370823 20 60773785 60773785 AG A heterozygous 524 D64976 TDRD3 c.1222_1224delAAT_p.Asn408del del ENST00000535286 13 61102575 61102575 GATA G heterozygous 525 D68566 SNAPC1 c.1015delA del ENST00000216294 14 62259561 62259561 TA T heterozygous 526 L52477 SNAPC1 c.1015delA del ENST00000216294 14 62259561 62259561 TA T heterozygous 527 L75291 L1TD1 c.1805_1808delTAAC del ENST00000498273 1 62676247 62676247 GAACT G heterozygous 528 L84221 JMJD1C c.3473_3478del6_p.Gly1158_Leu1159del del ENST00000399262 10 64967950 64967950 ACTAAAC A heterozygous 529 L84221 ABCA10 c.4515_4516delTC del ENST00000269081 17 67145190 67145190 TGA T heterozygous 530 T81996 C1orf141 c.1017_1021del5 del ENST00000371007 1 67558869 67558869 CTCATT C heterozygous 531 L50435 C8orf44 c.82delG del ENST00000519561 8 67590022 67590022 CG C heterozygous 532 L85802 TSNAXIP1 c.793_795delGAG_p.Glu265del del ENST00000388833 16 67859707 67859707 CAGG C heterozygous 533 L84221 YTHDC1 c.699_701delGGA_p.Glu249del del ENST00000344157 4 69202926 69202926 TTCC T heterozygous 534 L66742 BEST3 c.177delA del ENST00000330891 12 70088219 70088219 GT G heterozygous 535 T81996 BEST3 c.177delA del ENST00000330891 12 70088219 70088219 GT G heterozygous 536 L74809 LACTB2 c.431_439del9_p.Gly144_Thr146del del ENST00000276590 8 71556453 71556452 TCAGTGTGGC T heterozygous 537 L86963 MAMDC2 c.1063_1065delAAA_p.Lys355del del ENST00000377182 9 72755128 72755128 TAAA T heterozygous 538 D64976 GFM2 c.1826_1831del6_p.Phe609_Glu610del del ENST00000296805 5 74021846 74021846 TACTCAA T heterozygous 539 L74264 TMC1 c.247_249delGAA_p.Glu83del del ENST00000297784 9 75315433 75315433 GAGA G heterozygous 540 D77197 MDH2 c.167_168delAT del ENST00000315758 7 75684246 75684246 CTA C heterozygous 541 L84221 FAM176A c.244_252del9_p.Ser82_Ser84del del ENST00000233712 2 75720568 75720568 CGCTGTCGCT C heterozygous 542 L85802 USP36 c.2874_2879del6_p.Lys959_Lys960del del ENST00000312010 17 76798548 76798548 TTTTTTC T heterozygous 543 D64976 CD36 c.*4_*7delAGTA del ENST00000435819 7 80303460 80303460 ATAAG A heterozygous 544 L74809 KIAA1199 c.4078_4080delAAG_p.Lys1360del del ENST00000394685 15 81241253 81241246 TGAA T heterozygous 545 D64976 CHMP4C c.368+5_368+8delGTGA del ENST00000297265 8 82665476 82665476 TGTGA T heterozygous 546 L92388 UBE2CBP c.1153delG del ENST00000369747 6 83602757 83602757 GC G heterozygous 547 L41832 FANCA c.1814_1815delAG del ENST00000389301 16 89845219 89845219 ACT A heterozygous 548 L68203 FANCA c.1115_1118delTTGG del ENST00000389301 16 89858441 89858441 GCCAA G heterozygous 549 L85802 CIB1 c.510_513delCTCT del ENST00000328649 15 90774206 90774206 CAGAG C heterozygous 550 L45377 ENDOD1 c.708delT del ENST00000278505 11 94861945 94861945 CT C heterozygous 551 L76738 ZNF2 c.474_476delGCG_p.Arg160del del ENST00000340539 2 95847040 95847040 TGCG T homozygous 552 L74264 ZNF2 c.474_476delGCG_p.Arg160del del ENST00000340539 2 95847040 95847040 TGCG T homozygous 553 L82293 ERAP1 c.1861_1864delACTG del ENST00000296754 5 96121570 96121570 CCAGT C heterozygous 554 L75319 OR5K4 c.901delA del ENST00000354924 3 98073591 98073591 TA T homozygous 555 L75319 USP45 c.1008delA del ENST00000327681 6 99916419 99916419 CT C heterozygous 556 L60250 EIF5B c.1488_1490delAGA_p.Glu496del del ENST00000289371 2 99988116 99988116 CAGA C heterozygous 557 L45377 NOX1 c.544delA del ENST00000372966 X 100117507 100117507 GT G heterozygous 558 D81625 TFR2 c.1653_1655delGTT_p.Phe552del del ENST00000462107 7 100225393 100225393 GAAC G heterozygous 559 L52932 CCDC76 c.1014_1015delCA del ENST00000370141 1 100613643 100613643 CCA C heterozygous 560 D69066 MMP1 c.573delT del ENST00000315274 11 102667446 102667446 CA C heterozygous 561 L84221 CALHM2 c.341_342delCT del ENST00000260743 10 105209356 105209356 CAG C heterozygous 562 L60250 GSTO1 c.464_465+1delAGG del ENST00000369713 10 106022829 106022829 AGAG A heterozygous 563 L76738 TET2 c.2097_2113del17 del ENST00000540549 4 106157195 106157195 TGAAACAGCACTTGAATC T heterozygous 564 L75291 OR13C2 c.513_516delTAAC del ENST00000542196 9 107367392 107367392 TGTTA T heterozygous 565 L45377 LAMB4 c.5265delA del ENST00000388781 7 107664504 107664504 AT A heterozygous 566 D118107 ATM c.992delA del ENST00000278616 11 108117778 108117778 GA G heterozygous 567 L108995 ATM c.3802delG del ENST00000278616 11 108155007 108155007 AG A heterozygous 568 D59259 ATM c.4373delG del ENST00000278616 11 108160463 108160463 AG A heterozygous 569 L81899 ATM c.8303_8306delAATG del ENST00000278616 11 108213980 108213980 TTGAA T heterozygous 570 L52470 DZIP3 c.2218_2221delACTA del ENST00000361582 3 108380739 108380739 GTAAC G heterozygous 571 L76738 MAN2A1 c.3075_3077delCTC_p.Ser1026del del ENST00000261483 5 109190935 109190935 TCTC T heterozygous 572 D69066 SMPD2 c.492-3delC del ENST00000258052 6 109763947 109763947 TC T heterozygous 573 L67322 PKHD1L1 c.6563delG del ENST00000378402 8 110464995 110464995 TG T heterozygous 574 T81593 CCDC63 c.1414delG del ENST00000308208 12 111342459 111342459 AG A heterozygous 575 D69066 CD200R1L c.608delA del ENST00000398214 3 112545910 112545910 GT G heterozygous 576 L67322 TMEM87B c.498_500delAAT_p.Met167del del ENST00000283206 2 112832535 112832535 CAAT C homozygous 577 D64976 ALPK1 c.2824_2826delTCT_p.Ser942del del ENST00000458497 4 113353522 113353522 GTTC G heterozygous 578 L75319 CFTR c.1521_1523delCTT_p.Phe508del del ENST00000003084 7 117199644 117199644 ATCT A heterozygous 579 L92388 DDX18 c.335_343del9_p.Lys112_Lys114del del ENST00000263239 2 118575268 118575258 AAAGAAAAAG A heterozygous 580 L45377 TNFAIP8 c.223delC del ENST00000504771 5 118728700 118728700 AC A heterozygous 581 L75319 C3orf30 c.96_98delAGA_p.Glu32del del ENST00000295622 3 118865126 118865126 GGAA G heterozygous 582 L60250 POLQ c.4262_4268del7 del ENST00000264233 3 121207503 121207509 CAATAGTA C heterozygous 583 L67322 POLQ c.3072_3074delAAA_p.Lys1025del del ENST00000264233 3 121208703 121208703 CTTT C heterozygous 584 L52932 ASB15 c.721delG del ENST00000451558 7 123267185 123267185 CG C heterozygous 585 L75319 SLC41A3 c.1502_1505delTGTT del ENST00000315891 3 125725268 125725268 TAACA T homozygous 586 L76738 USP20 c.1075_1077delGAC_p.Asp359del del ENST00000315480 9 132630664 132630664 TGAC T homozygous 587 L86963 C9orf171 c.648_650delCTT_p.Phe217del del ENST00000343036 9 135412999 135412999 CCTT C heterozygous 588 D77197 GPR112 c.7969_7971delGAT_p.Asp2657del del ENST00000394143 X 135474444 135474444 AGAT A heterozygous 589 D64976 GLT6D1 c.427delT del ENST00000371763 9 138516346 138516346 CA C heterozygous 590 L84221 UBAC1 c.806_808delAGG_p.Glu269del del ENST00000371756 9 138836941 138836941 GCCT G heterozygous 591 L84221 FAM69B c.235_240del6_p.Val79_Cys80del del ENST00000371692 9 139616407 139616407 CCGTCTG C heterozygous 592 L85802 PCDHA3 c.526_529delGAAT del ENST00000522353 5 140181306 140181306 CTGAA C heterozygous 593 L45377 SPANXN4 c.87_89delGAA_p.Lys29del del ENST00000446864 X 142121808 142121808 CAGA C heterozygous 594 L45377 TAS2R60 c.392_394delTCT_p.Phe131del del ENST00000332690 7 143140930 143140930 GTCT G heterozygous 595 L52932 PDE4DIP c.4994delA del ENST00000369356 1 144873962 144873962 CT C heterozygous 596 L84221 POLR3GL c.398delT del ENST00000369314 1 145457293 145457293 GA G heterozygous 597 L92388 PLSCR1 c.219_233del15_p.Tyr74_Val78del del ENST00000342435 3 146246479 146246479 AACTGGCTGATTATAT A heterozygous 598 L85802 FLG c.10687delC del ENST00000368799 1 152276674 152276674 TG T heterozygous 599 L45377 C5orf52 c.247delA del ENST00000409999 5 157102127 157102127 GA G heterozygous 600 L76738 MRPL18 c.30_32delGTT_p.Leu10del del ENST00000367034 6 160211645 160211645 GGTT G homozygous 601 D64976 NIT1 c.555_556delCA del ENST00000368009 1 161089705 161089705 CCA C heterozygous 602 L84221 GOLIM4 c.1818_1820delGGA_p.Glu606del del ENST00000470487 3 167742353 167742353 GTCC G heterozygous 603 L45377 DDX60L c.4605delA del ENST00000260184 4 169296555 169296555 CT C heterozygous 604 L67322 METTL13 c.80_81delAA del ENST00000361735 1 171751185 171751185 GAA G heterozygous 605 D64976 METTL8 c.236-3_237del5 del ENST00000375258 2 172196062 172196062 TAACTA T heterozygous 606 L84221 GPRIN1 c.693_716del24_p.Glu233_Lys240del del ENST00000303991 5 176026119 176026119 TCTCAAAGACCCAGGATCCTCCTTC T heterozygous 607 L52477 SPATA4 c.836_839delGAGA del ENST00000280191 4 177105979 177106009 TTCTC T heterozygous 608 L67322 SPATA4 c.836_839delGAGA del ENST00000280191 4 177106009 177106009 TTCTC T heterozygous 609 D68566 VEGFC c.1256_1258delTGA_p.Met419del del ENST00000280193 4 177605081 177605081 CTCA C homozygous 610 T81593 KCNMB2 c.475delG del ENST00000432997 3 178560490 178560490 TG T heterozygous 611 D81625 BTNL9 c.622delC del ENST00000327705 5 180477253 180477253 AC A heterozygous 612 L84221 PRG4 c.615_617delGAA_p.Lys205del del ENST00000445192 1 186275460 186275460 CAAG C heterozygous 613 L66742 LSG1 c.379_381delGAA_p.Glu127del del ENST00000265245 3 194386984 194386984 GTTC G heterozygous 614 L60250 CRB1 c.498_506del9_p.Ile167_Gly169del del ENST00000367400 1 197297973 197297973 GGATGGAATT G heterozygous 615 L85802 SGOL2 c.1383_1386delTGAA del ENST00000357799 2 201436446 201436446 GATGA G heterozygous 616 L85802 RPS6KC1 c.680delC del ENST00000366960 1 213303075 213303075 TC T heterozygous 617 T81996 USP37 c.2170_2171delCT del ENST00000258399 2 219339480 219339480 CAG C heterozygous 618 L76738 ANKZF1 c.1912_1917del6_p.Gln638_Glu639del del ENST00000323348 2 220100529 220100529 CAGCAGG C heterozygous 619 L74809 OR2B11 c.23delT del ENST00000318749 1 247615261 247615261 GA G heterozygous 620 D69367 OR2T2 c.612_618del7 del ENST00000342927 1 248616704 248616704 CTGCTGCG C heterozygous 621 L75291 OR2T35 c.609_615del7 del ENST00000317450 1 248801944 248801944 TCAGCACG T heterozygous 622 L97981 PALB2 c.1059_1077delinsGG complex ENST00000261584 16 23646789 23646790 ACTGGGAGATTTTAAAGAT CC heterozygous 623 L74809 ZNF527 c.902_904delinsTGTGCA_p.Pro301_Tyr302delinsLeuCysAsn complex ENST00000356178 19 37879853 37879853 CAT TGTGCA heterozygous 624 L76738 GPRIN2 c.721_724delinsATGAGGGAGGTGG_p.Val241_Arg242delinsMetArgGluValGly complex ENST00000374314 10 46999591 46999601 GTGA ATGAGGGAGGTGG heterozygous 625 L76738 ALPK2 c.3009_3027delinsAGAG_p.Glu1006_Thr1010del complex ENST00000361673 18 56204392 56204392 TGATGTGTCCTCAGTCTCC CTCT heterozygous 626 D77197 GPRC6A c.2321_2324delinsGGAAATTACC_p.Lys774_Tyr775delinsArgLysLeuPro complex ENST00000310357 6 117113762 117113762 TATT GGTAATTTCC homozygous 627 L75319 LAD1 c.483_486delinsT_p.Leu161_Val162delinsPhe complex ENST00000391967 1 201356003 201356003 CACC A heterozygous 628 L86963 OR2T4 c.447_448delinsTACG complex ENST00000366475 1 248525328 248525329 CA TACG heterozygous 629 D69367 MLL3 c.2447dupA ins ENST00000262189 7 151945051 151945071 G GT heterozygous 630 D81625 IFT140 c.1538_1541dupAACT ins ENST00000426508 16 1621518 1621518 G GAGTT heterozygous 631 L45377 ART5 c.71_73dupCCA_p.Pro24_Ile25insThr ins ENST00000397068 11 3661585 3661585 A ATGG homozygous 632 L60250 ART5 c.71_73dupCCA_p.Pro24_Ile25insThr ins ENST00000397068 11 3661585 3661585 A ATGG homozygous 633 L85802 ART5 c.71_73dupCCA_p.Pro24_Ile25insThr ins ENST00000397068 11 3661585 3661585 A ATGG homozygous 634 L84221 STAP2 c.905dupC ins ENST00000314714 19 4325472 4325466 T TG heterozygous 635 L67322 OR51I2 c.714_715dupCA ins ENST00000341449 11 5475431 5475431 T TCA heterozygous 636 L84221 PRAMEF4 c.1255dupC ins ENST00000235349 1 12939546 12939546 C CG heterozygous 637 D81625 SPATA21 c.1081_1083dupAAG_p.Lys361dup ins ENST00000335496 1 16727305 16727305 G GCTT homozygous 638 L92388 SKA3 c.1120-4_1120-3dupTT ins ENST00000314759 13 21729952 21729952 T TAA heterozygous 639 L84221 OXA1L c.1445_1447dupGCA_p.Ser482dup ins ENST00000285848 14 23240713 23240713 T TAGC heterozygous 640 L86963 OXA1L c.1445_1447dupGCA_p.Ser482dup ins ENST00000285848 14 23240713 23240713 T TAGC heterozygous 641 L53533 PALB2 c.1947dupA ins ENST00000261584 16 23641527 23641527 C CT heterozygous 642 L133044 PALB2 c.726_727insTTAGGTCTGTAGA ins ENST00000261584 16 23647140 23647140 T TTCTACAGACCTAA heterozygous 643 L66742 DFNA5 c.119dupA ins ENST00000342947 7 24789267 24789274 C CT heterozygous 644 L45377 IFT74 c.120+2dupT ins ENST00000443698 9 26962086 26962086 G GT heterozygous 645 L86963 EPHX2 c.1206_1208dupTCG_p.Arg403dup ins ENST00000521400 8 27394334 27394334 A AGTC heterozygous 646 D81625 IFNK c.34_37dupTTGT ins ENST00000276943 9 27524364 27524364 G GTGTT heterozygous 647 L84221 SERINC2 c.1129_1131dupCAG_p.Gln377dup ins ENST00000373710 1 31905889 31905889 A ACAG homozygous 648 L92388 SERINC2 c.1129_1131dupCAG_p.Gln377dup ins ENST00000373710 1 31905889 31905889 A ACAG homozygous 649 L75319 SERINC2 c.1129_1131dupCAG_p.Gln377dup ins ENST00000373710 1 31905889 31905889 A ACAG heterozygous 650 L76738 SON c.7236dupA ins ENST00000356577 21 34948684 34948684 G GA homozygous 651 L75291 ANLN c.883_885dupTCT_p.Ser295dup ins ENST00000265748 7 36447349 36447349 A ACTT heterozygous 652 L84221 USP49 c.1901_1905dup5 ins ENST00000373006 6 41766432 41766432 C CCCCCA heterozygous 653 L85802 EPSTI1 c.1180_1184dup5 ins ENST00000313640 13 43462434 43462434 T TTCAGG heterozygous 654 l17193 ZNF221 c.1641dupT ins ENST00000251269 19 44471292 44471292 A AT heterozygous 655 L93437 SPG11 c.6754+2_6754+3dupTG ins ENST00000261866 15 44859618 44859618 T TCA heterozygous 656 L59932 SPG11 c.5904dupC ins ENST00000261866 15 44867201 44867201 A AG heterozygous 657 L64304 SPG11 c.3213_3214insCCCT ins ENST00000261866 15 44903115 44903115 C CAGGG heterozygous 658 L73521 SPG11 c.1348dupA ins ENST00000261866 15 44943796 44943796 A AT heterozygous 659 L81636 FANCM c.1241dupA ins ENST00000267430 14 45623955 45623955 T TA heterozygous 660 L80559 OR13A1 c.805dupT ins ENST00000553795 10 45799065 45799065 T TA heterozygous 661 D69066 COL6A2 c.1817-3dupC ins ENST00000300527 21 47545369 47545369 A AC heterozygous 662 L74264 EME1 c.410_412dupAGC_p.Lys137_Pro138insGln ins ENST00000393271 17 48452978 48452978 A AAGC heterozygous 663 L86963 DHDH c.517dupG ins ENST00000221403 19 49442849 49442849 T TG heterozygous 664 L86963 TSPYL6 c.580_585del6_p.Gly194_Pro195del ins ENST00000317802 2 54482702 54482703 GGGGCCC G heterozygous 665 L84221 CDCP2 c.1224dupC ins ENST00000371330 1 54605318 54605318 T TG heterozygous 666 L86963 SKIV2L2 c.174_182dup9_p.Asn58_Gly60dup ins ENST00000230640 5 54618191 54618191 T TAATAATGGA heterozygous 667 L45377 DCD c.225dupA ins ENST00000293371 12 55039020 55039020 C CT heterozygous 668 L86963 CCDC66 c.1816_1818dupTCT_p.Ser606dup ins ENST00000394672 3 56650051 56650051 A ACTT heterozygous 669 L45377 ATG4C c.959_960delTG ins ENST00000317868 1 63299735 63299729 TTG T heterozygous 670 D64976 CYP7B1 c.650dupT ins ENST00000310193 8 65528447 65528447 T TA heterozygous 671 L84221 CTDP1 c.1746_1748dupGGA_p.Glu582dup ins ENST00000299543 18 77475187 77475187 T TGGA heterozygous 672 L67322 FGF5 c.671_673dupAGC_p.Gln224dup ins ENST00000312465 4 81207686 81207686 G GAGC heterozygous 673 L83825 FANCA c.2839dupT ins ENST00000389301 16 89828369 89828369 G GA heterozygous 674 L97649 FANCA c.2812_2830dup19 ins ENST00000389301 16 89828378 89828378 T TCAGCTTCAGGTTGAATTTC heterozygous 675 d119782 FANCA c.2587_2588dupGG ins ENST00000389301 16 89833561 89833561 G GCC heterozygous 676 L52068 FANCA c.1809dupT ins ENST00000389301 16 89845225 89845225 T TA heterozygous 677 L52932 KIF20B c.3188_3189insAGTAAA_p.Lys1063_Glu1064insValLys ins ENST00000260753 10 91497902 91497902 C CTAAAAG heterozygous 678 L50435 SLC26A7 c.1554dupA ins ENST00000309536 8 92378866 92378866 C CA heterozygous 679 L86963 SPAG1 c.1059_1060insGAC_p.Lys353_Ser354insAsp ins ENST00000388798 8 101206459 101206459 A AGAC homozygous 680 L84221 NFKBIZ c.1935+4_1935+5insTTTTAGAAAGCTTTAATAACCAC ins ENST00000326172 3 101576029 101576029 T TACTTTTAGAAAGCTTTAATAACC homozygous 681 L61923 ATM c.5712dupA ins ENST00000278616 11 108178655 108178655 T TA heterozygous 682 L75319 PNLIPRP3 c.533_534insA ins ENST00000369230 10 118215309 118215310 G GA heterozygous 683 L52470 BTBD16 c.1447dupA ins ENST00000260723 10 124096188 124096188 C CA heterozygous 684 L92388 MUC13 c.182_184dupCTT_p.Pro61_Phe62insSer ins ENST00000311075 3 124646705 124646705 A AAAG homozygous 685 L60250 OR1B1 c.44dupT ins ENST00000304833 9 125391769 125391770 C CA heterozygous 686 L67322 ZRANB1 c.*9dupA ins ENST00000359653 10 126673560 126673560 G GA heterozygous 687 L85802 ERCC3 c.1762dupG ins ENST00000285398 2 128030505 128030505 T TC heterozygous 688 L74809 WWTR1 c.1199_1200insTTAA ins ENST00000465804 3 149238593 149238595 C CTTAA heterozygous 689 L67322 AKAP12 c.4593_4595dupGGA_p.Glu1531dup ins ENST00000402676 6 151674116 151674116 T TGAG heterozygous 690 L84221 FLG2 c.3939_3940dupTA ins ENST00000388718 1 152326321 152326321 G GTA heterozygous 691 D69066 HAX1 c.117_122dup6_p.Glu40_Gly41dup ins ENST00000328703 1 154245874 154245874 A AAGAAGG heterozygous 692 L86963 ADAM15 c.604_610dup7 ins ENST00000356955 1 155026972 155026972 A ACATTCGC heterozygous 693 L67322 GPATCH4 c.1083_1084insGT ins ENST00000438976 1 156565049 156565049 A AAC homozygous 694 L74809 GPATCH4 c.1083_1084insGT ins ENST00000438976 1 156565049 156565049 A AAC homozygous 695 L60250 FMO2 c.211_213dupGAC_p.Asp71dup ins ENST00000441535 1 171162551 171162551 T TGAC heterozygous 696 D64976 PDE11A c.2761_2763dupTCC_p.Ser921dup ins ENST00000286063 2 178494173 178494173 G GGGA homozygous 697 D68566 APOD c.382_386dup5 ins ENST00000343267 3 195295954 195295954 G GGCATA heterozygous 698 D81625 DNAH7 c.4787dupA ins ENST00000312428 2 196759808 196759808 A AT heterozygous 699 L76738 CHIT1 c.1049_1072dup24_p.Val357_Trp358insX ins ENST00000367229 1 203186950 203186950 C CAGACCATGGCCCCGCCCAGTCCCT homozygous 700 L60250 CHIT1 c.1049_1072dup24_p.Val357_Trp358insX ins ENST00000367229 1 203186950 203186950 C CAGACCATGGCCCCGCCCAGTCCCT homozygous 701 L76738 ALS2CR8 c.2146dupA ins ENST00000320443 2 203848307 203848307 C CA heterozygous 702 L86963 BARD1 c.1935_1954dup20 ins ENST00000260947 2 215595181 215595181 T TCATACTTTTCTTCCTGTTCA heterozygous 703 L86963 OR2W3 c.893dupA ins ENST00000537741 1 248059779 248059779 G GA heterozygous 704