view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRAPPC10_chr21_44007309_44111552 | 44088880 | T | TCCCACTC others(1096): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 |
a0002a0007 | a0002c0006a0007c0014 | a0002c0006t0011a0007c0014t0011 | a0002c0006t0011g0139 a0007c0014t0011g0138 |
2 | 254 | 0.0079 | 1103 | c.277 others(1120): Show |
TRAPPC10 | ENSG00000160218.13 | transcript | ENST00000291574.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(1096): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0270 | 1 | 344 | 0.0029 | 1103 | c.218 others(1120): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024604 | G | GCAGGAAT others(1096): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 144 | 0.0069 | 1103 | c.427 others(1122): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024880 | G | GCAGGAAT others(1096): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 | 1 | 144 | 0.0069 | 1103 | c.427 others(1122): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305023 | A | ACACACAT others(1097): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0029 | a0029c0048 | a0029c0048t0001 | a0029c0048t0001g0173 | 1 | 332 | 0.0030 | 1104 | c.318 others(1123): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1617757 | T | TGTCCAGA others(1097): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp2 HG03540.hp1 |
a0001a0007 | a0001c0003a0007c0014 | a0001c0003t0001a0001c0003t0039a0007c0014t0020 | a0001c0003t0001g0052 a0001c0003t0039g0044 a0007c0014t0020g0037 |
3 | 106 | 0.0283 | 1104 | c.100 others(1125): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1097): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0022 | 1 | 238 | 0.0042 | 1104 | c.787 others(1119): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1097): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0199 | 1 | 254 | 0.0039 | 1104 | c.305 others(1121): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GCAGTGTG others(1097): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0002a0001c0009a0001c0046 | a0001c0002t0014a0001c0009t0075a0001c0046t0014 | a0001c0002t0014g0197 a0001c0002t0014g0213 a0001c0009t0075g0153 others(1): Show |
4 | 254 | 0.0158 | 1104 | c.305 others(1121): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872978 | G | GTGGTGTG others(1097): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0006 | a0001c0006t0056 | a0001c0006t0056g0162 | 1 | 254 | 0.0039 | 1104 | c.305 others(1121): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | chr13 | TogoVar | |||||||
BTNL8_chr5_180894159_180955906 | 180917048 | T | TCAACAAA others(1097): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0047 | 1 | 190 | 0.0053 | 1104 | c.673 others(1121): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1097): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0003 | a0003c0113 | a0003c0113t0004 | a0003c0113t0004g0184 | 1 | 338 | 0.0030 | 1104 | c.300 others(1121): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1097): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0050 | 1 | 334 | 0.0030 | 1104 | c.-25 others(1115): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1097): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0022 | 1 | 334 | 0.0030 | 1104 | c.-25 others(1115): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065114 | A | ATAGTATT others(1097): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0021 | 1 | 334 | 0.0030 | 1104 | c.-25 others(1115): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2249 | chr11 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1097): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0035 | a0035c0149 | a0035c0149t0001 | a0035c0149t0001g0053 | 1 | 252 | 0.0040 | 1104 | c.118 others(1123): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400566 | C | CCACCACC others(1097): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0012 | a0012c0092 | a0012c0092t0011 | a0012c0092t0011g0126 | 1 | 256 | 0.0039 | 1104 | c.323 others(1123): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400991 | A | ACCATCAC others(1097): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0187 | 1 | 256 | 0.0039 | 1104 | c.323 others(1123): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1097): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(15): Show |
a0001a0003a0013others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0013 a0001c0002t0001g0032 a0001c0003t0001g0005 others(15): Show |
18 | 143 | 0.1259 | 1104 | c.344 others(1121): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113841676 | T | TTCCATAC others(1097): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 143 | 0.0070 | 1104 | c.344 others(1121): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635194 | C | CCCCCACC others(1097): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 328 | 0.0031 | 1104 | c.163 others(1121): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399217 | C | CCACCACC others(1097): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 314 | 0.0032 | 1104 | c.-25 others(1121): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399228 | A | ACCGCCGC others(1097): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0253 | 1 | 314 | 0.0032 | 1104 | c.-25 others(1121): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1097): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 314 | 0.0032 | 1104 | c.-25 others(1121): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(1097): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 388 | 0.0026 | 1104 | c.105 others(1121): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1097): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0315 | 1 | 388 | 0.0026 | 1104 | c.105 others(1121): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1097): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 388 | 0.0026 | 1104 | c.105 others(1121): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055103 | A | ATGCATAG others(1097): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0042 | 1 | 236 | 0.0042 | 1104 | c.193 others(1123): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507025 | G | GATTTCAG others(1097): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 260 | 0.0039 | 1104 | c.624 others(1121): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507025 | G | GATTTCAG others(1097): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 260 | 0.0039 | 1104 | c.624 others(1121): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502043 | G | GCCCCCCA others(1097): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0089 | a0089c0109 | a0089c0109t0001 | a0089c0109t0001g0062 | 1 | 292 | 0.0034 | 1104 | c.218 others(1121): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79494731 | G | GGGCACAC others(1097): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0066 | a0001c0066t0041 | a0001c0066t0041g0007 | 1 | 322 | 0.0031 | 1104 | c.278 others(1123): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79494731 | G | GGGCACAC others(1097): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0307 | 1 | 322 | 0.0031 | 1104 | c.278 others(1123): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAC others(1097): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 439 | 0.0023 | 1104 | c.-15 others(1115): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1097): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 154 | 0.0065 | 1104 | c.108 others(1121): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1097): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01071.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(9): Show | a0001c0001t0001g0044 a0001c0001t0002g0030 a0001c0001t0002g0101 others(11): Show |
14 | 154 | 0.0909 | 1104 | c.108 others(1121): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1097): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 324 | 0.0031 | 1104 | c.115 others(1121): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431895 | T | TAGGGTGG others(1097): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 376 | 0.0027 | 1104 | c.101 others(1123): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(1097): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0045 | 1 | 214 | 0.0047 | 1104 | c.206 others(1123): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1097): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 420 | 0.0024 | 1104 | c.107 others(1121): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1097): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 420 | 0.0024 | 1104 | c.107 others(1121): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGGGAAGG others(1097): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0349 | 1 | 373 | 0.0027 | 1104 | c.115 others(1121): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245977053 | C | CAGGGAAA others(1097): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 150 | 0.0067 | 1104 | c.532 others(1123): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1097): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0004g0094 a0001c0002t0001g0108 a0001c0002t0002g0111 others(5): Show |
8 | 130 | 0.0615 | 1104 | c.627 others(1123): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(1097): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 1104 | c.*28 others(1115): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133827972 | C | CGGGCATC others(1097): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0027 | 1 | 200 | 0.0050 | 1104 | c.449 others(1121): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118580 | T | TCCCTGAG others(1098): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 | 1 | 337 | 0.0030 | 1105 | c.246 others(1122): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1098): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 326 | 0.0031 | 1105 | c.327 others(1122): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1098): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0018 a0001c0002t0001g0043 others(4): Show |
7 | 326 | 0.0215 | 1105 | c.327 others(1122): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1098): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0068 | a0068c0047 | a0068c0047t0005 | a0068c0047t0005g0247 | 1 | 338 | 0.0030 | 1105 | c.300 others(1122): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |