regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMSAP2_chr1_200733893_200865704 | 200816966 | G | GTATGTGT others(199): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0275 | 2 | 366 | 0.0055 | 206 | c.645 others(223): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0281 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0327 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0328 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18986.hp2 |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0004a0003c0005t0001 | a0002c0004t0004g0332a0003c0005t0001g0246 | 2 | 364 | 0.0055 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0285 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0263 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0310 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGAAGAA others(199): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761488 | G | GGGAAGGG others(199): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0164 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761488 | G | GGGAAGGG others(199): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 364 | 0.0028 | 206 | c.234 others(223): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
CCDC141_chr2_178824757_179055137 | 179015551 | C | CATATATC others(199): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00639.hp2 others(40): Show |
a0002a0007a0009others(4): Show | a0002c0003a0002c0006a0002c0010others(9): Show | a0002c0003t0002a0002c0003t0003a0002c0003t0010others(25): Show | a0002c0003t0002g0229a0002c0003t0002g0241a0002c0003t0002g0270others(40): Show | 43 | 274 | 0.1569 | 206 | c.225 others(225): Show |
CCDC141 | ENSG00000163492.16 | transcript | ENST00000443758.7 | protein_coding | 2/23 | chr2 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTCCCC others(199): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 410 | 0.0024 | 206 | c.-22 others(217): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(199): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | 206 | c.-22 others(217): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(199): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 410 | 0.0024 | 206 | c.-22 others(217): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(199): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 410 | 0.0024 | 206 | c.-22 others(217): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69894561 | A | AGGGGAGG others(199): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0240 | 1 | 256 | 0.0039 | 206 | c.727 others(223): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103113151 | A | AGTGTATA others(199): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01928.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0025a0002c0002t0001g0048 | 2 | 320 | 0.0063 | 206 | c.754 others(225): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104884741 | C | CGGGGGGT others(199): Show |
intron_variant | MODIFIER | HG02976.hp1 NA20300.hp1 |
a0003 | a0003c0026a0003c0067 | a0003c0026t0002a0003c0067t0002 | a0003c0026t0002g0025a0003c0067t0002g0025 | 2 | 328 | 0.0061 | 206 | c.177 others(223): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | chr14 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75503873 | T | TAATTTAA others(199): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0270a0001c0001t0005g0271 | 2 | 336 | 0.0060 | 206 | c.231 others(223): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320378 | T | TATATTAT others(199): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0022 | a0022c0042 | a0022c0042t0003 | a0022c0042t0003g0128 | 1 | 236 | 0.0042 | 206 | c.342 others(227): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862690 | T | TCCACCAT others(199): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 216 | 0.0046 | 206 | c.495 others(223): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1329498 | A | AGCCTCAG others(199): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18984.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0227a0001c0001t0001g0228 | 3 | 370 | 0.0081 | 206 | c.108 others(223): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333370 | C | CTGTAGAC others(199): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266a0001c0001t0002g0267 | 2 | 370 | 0.0054 | 206 | c.891 others(221): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139955612 | C | CTACTGAC others(199): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00735.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(54): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0037others(83): Show | 86 | 110 | 0.7818 | 206 | c.109 others(225): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81704315 | T | TCCCCCTT others(199): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0181 | 1 | 268 | 0.0037 | 206 | c.209 others(223): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133822 | T | TCTCTCTC others(199): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 223 | 0.0045 | 206 | c.-42 others(217): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3939 | chr19 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255543 | A | AAGGAAGG others(199): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0322 | 1 | 344 | 0.0029 | 206 | c.85- others(223): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(199): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0143 | 1 | 344 | 0.0029 | 206 | c.85- others(223): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAAG others(199): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0203 | 1 | 344 | 0.0029 | 206 | c.85- others(223): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481803 | T | TTGCTGGA others(199): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0153a0001c0001t0002g0338a0001c0001t0003g0124others(89): Show | 93 | 372 | 0.2500 | 206 | c.275 others(223): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(199): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0147 | 1 | 348 | 0.0029 | 206 | c.928 others(221): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(199): Show |
downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 370 | 0.0027 | 206 | c.*56 others(217): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(199): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 370 | 0.0027 | 206 | c.*56 others(217): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924079 | C | CCCCCACA others(199): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0221 | 1 | 350 | 0.0029 | 206 | c.488 others(223): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924603 | C | CCCCCACA others(199): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04199.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0043a0004c0004t0001g0038 | 2 | 350 | 0.0057 | 206 | c.489 others(223): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3558369 | G | GTGCCTCA others(199): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0012 | a0002c0012t0017 | a0002c0012t0017g0088 | 1 | 126 | 0.0079 | 206 | c.134 others(227): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(199): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0084 | a0002c0084t0018 | a0002c0084t0018g0087 | 1 | 126 | 0.0079 | 206 | c.416 others(227): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33148534 | T | TAAAAATA others(199): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0251 | 2 | 360 | 0.0056 | 206 | c.28- others(221): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232020 | A | ACCACTAC others(199): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 396 | 0.0025 | 206 | c.513 others(223): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232201 | C | CGCCCACC others(199): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 396 | 0.0025 | 206 | c.513 others(221): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CXorf51A_chrX_146809106_146819744 | 146812157 | G | GTATATAC others(199): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 264 | 0.0038 | 206 | c.*20 others(217): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1948 | chrX | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812157 | G | GTATATAC others(199): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 264 | 0.0038 | 206 | c.*20 others(217): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1948 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812157 | G | GTATATAC others(199): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 206 | c.*18 others(217): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1747 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812157 | G | GTATATAC others(199): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 272 | 0.0037 | 206 | c.*18 others(217): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1747 | chrX | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(199): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0120 | a0002c0002t0120g0209 | 1 | 334 | 0.0030 | 206 | c.290 others(221): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP3A5_chr7_99643194_99684996 | 99675633 | T | TCCCCACT others(199): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0046 | 1 | 292 | 0.0034 | 206 | c.165 others(221): Show |
CYP3A5 | ENSG00000106258.16 | transcript | ENST00000222982.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53429030 | A | AATAAATT others(199): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0043 | 1 | 114 | 0.0088 | 206 | c.316 others(225): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCLK2_chr4_150073445_150262438 | 150251210 | C | CTCCCCAC others(199): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0075 | 1 | 116 | 0.0086 | 206 | c.207 others(225): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar |