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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRWD3_chrX_80664503_80814877 | 80803096 | CATCTCAA others(24): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0150 | 1 | 265 | 0.0038 | -31 | c.180 others(48): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 4/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80803098 | TCTCAAAA others(24): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(28): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0012others(18): Show | a0001c0001t0006g0036a0001c0001t0006g0038a0001c0001t0006g0039others(28): Show | 31 | 265 | 0.1170 | -31 | c.180 others(48): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 4/40 | chrX | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816444 | ATGTGTGT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0018 | 1 | 436 | 0.0023 | -31 | c.*26 others(42): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 860 | chr1 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816693 | CATAGATG others(24): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 436 | 0.0023 | -31 | c.*29 others(42): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1109 | chr1 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38166021 | TACCCGCA others(24): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(53): Show | a0001c0001t0001g0101a0001c0001t0001g0197a0001c0001t0001g0198others(69): Show | 72 | 224 | 0.3214 | -31 | c.*89 others(42): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 2429 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38166389 | ACACAGCA others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0182 | a0001c0001t0182g0095 | 1 | 224 | 0.0045 | -31 | c.*85 others(42): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 2061 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38171858 | AAAAAAAA others(24): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0064 | a0001c0001t0063g0090a0001c0001t0064g0184 | 2 | 224 | 0.0089 | -31 | c.*30 others(42): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 11/11 | 3096 | chr6 | TogoVar | |||||
BTBD9_chr6_38163451_38644929 | 38266647 | AAAGAAAG others(24): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0133 | 1 | 224 | 0.0045 | -31 | c.145 others(52): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTNL3_chr5_180983846_181011727 | 180986530 | AGGTAGCC others(24): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0045 | 1 | 206 | 0.0049 | -31 | c.-24 others(42): Show |
BTNL3 | ENSG00000168903.9 | transcript | ENST00000342868.7 | protein_coding | 2315 | chr5 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126565198 | ACATATTA others(24): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 218 | 0.0046 | -31 | c.314 others(50): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C11orf65_chr11_108377755_108472529 | 108432408 | TTATTCCT others(24): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 330 | 0.0030 | -31 | c.82- others(44): Show |
C11orf65 | ENSG00000166323.13 | transcript | ENST00000393084.6 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
C14orf93_chr14_22980894_23015143 | 23003872 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 344 | 0.0029 | -31 | c.-37 others(50): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
C14orf93_chr14_22980894_23015143 | 23003874 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0130 | 1 | 344 | 0.0029 | -31 | c.-37 others(50): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
C14orf93_chr14_22980894_23015143 | 23003878 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0094a0001c0001t0002g0095a0001c0001t0002g0096others(3): Show | 10 | 344 | 0.0291 | -31 | c.-37 others(50): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
C14orf93_chr14_22980894_23015143 | 23003880 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0100a0001c0001t0003g0098a0001c0001t0003g0099others(1): Show | 4 | 344 | 0.0116 | -31 | c.-37 others(50): Show |
C14orf93 | ENSG00000100802.15 | transcript | ENST00000299088.11 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10983044 | CTAAAAAA others(24): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02896.hp1 |
a0001a0004 | a0001c0003a0004c0007 | a0001c0003t0001a0004c0007t0005 | a0001c0003t0001g0123a0004c0007t0005g0120 | 2 | 392 | 0.0051 | -31 | c.-10 others(42): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 969 | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10983045 | TAAAAAAA others(24): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0029others(56): Show | 59 | 392 | 0.1505 | -31 | c.-10 others(42): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 970 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1109108 | ACCACAGC others(24): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(103): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0058a0001c0001t0001g0068a0001c0001t0001g0234others(103): Show | 106 | 326 | 0.3252 | -31 | c.-13 others(50): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1112572 | CGCATGCT others(24): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 326 | 0.0031 | -31 | c.-13 others(50): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C1orf43_chr1_154201720_154225590 | 154203171 | AAATATAT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096a0001c0001t0002g0003 | 2 | 374 | 0.0054 | -31 | c.*42 others(42): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3548 | chr1 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46302984 | GCGCCCTG others(24): Show |
G | intron_variant | MODIFIER | NA18975.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234a0001c0001t0002g0254 | 2 | 378 | 0.0053 | -31 | c.722 others(46): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74139909 | TAATGTCC others(24): Show |
T | intron_variant | MODIFIER | NA18956.hp1 NA18963.hp1 NA19070.hp1 |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0211a0008c0007t0001g0212a0008c0007t0001g0216 | 3 | 318 | 0.0094 | -31 | c.484 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74139928 | CAGGATTG others(24): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18957.hp2 |
a0002a0032 | a0002c0003a0032c0024 | a0002c0003t0001a0032c0024t0001 | a0002c0003t0001g0078a0032c0024t0001g0200 | 2 | 318 | 0.0063 | -31 | c.484 others(46): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74140052 | GAGGATTG others(24): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(113): Show |
a0002a0004a0005others(9): Show | a0002c0003a0002c0005a0002c0028others(12): Show | a0002c0003t0001a0002c0005t0001a0002c0028t0001others(12): Show | a0002c0003t0001g0016a0002c0003t0001g0017a0002c0003t0001g0018others(113): Show | 116 | 318 | 0.3648 | -31 | c.484 others(46): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 400668 | AGGGGTTC others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0013a0001c0004t0004g0004 | 4 | 322 | 0.0124 | -31 | c.*63 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 4776 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404063 | GGGGGGAC others(24): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0017 | a0002c0017t0005 | a0002c0017t0005g0170 | 1 | 322 | 0.0031 | -31 | c.*30 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1381 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404189 | GGGGGGGG others(24): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -31 | c.*28 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1255 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404603 | GAGGGGGA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 322 | 0.0031 | -31 | c.*24 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 841 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404905 | GACGGGGT others(24): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02735.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0034a0001c0001t0101others(1): Show | a0001c0001t0021g0022a0001c0001t0034g0031a0001c0001t0101g0080others(1): Show | 4 | 322 | 0.0124 | -31 | c.*21 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 539 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 405002 | TGGGGTCC others(24): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -31 | c.*20 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 442 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 405026 | AGGGGAAC others(24): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 322 | 0.0031 | -31 | c.*20 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 418 | chr19 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73809887 | GTATTCTA others(24): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 212 | 0.0047 | -31 | c.98- others(46): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3orf62_chr3_49263596_49282232 | 49263998 | GAAGAAAT others(24): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03209.hp1 HG03209.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0009 | a0001c0001t0001g0121a0003c0003t0001g0030a0003c0003t0001g0053others(1): Show | 6 | 326 | 0.0184 | -31 | c.*71 others(42): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 4597 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091932 | TATATATA others(24): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0021 | 1 | 388 | 0.0026 | -31 | c.197 others(48): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091933 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 NA18949.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0127a0002c0002t0038a0002c0002t0106 | a0001c0001t0127g0024a0002c0002t0038g0305a0002c0002t0038g0306others(1): Show | 4 | 388 | 0.0103 | -31 | c.197 others(48): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091935 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01192.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(21): Show | a0001c0001t0003g0282a0001c0001t0003g0311a0001c0001t0003g0334others(27): Show | 30 | 388 | 0.0773 | -31 | c.197 others(48): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185091937 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 388 | 0.0026 | -31 | c.197 others(48): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43500396 | AATTAAAA others(24): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 2 | 340 | 0.0059 | -31 | c.115 others(50): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148607002 | ACATGGCA others(24): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 HG03453.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(1): Show | a0001c0001t0002a0002c0002t0005a0003c0009t0001others(1): Show | a0001c0001t0002g0387a0002c0002t0005g0384a0003c0009t0001g0096others(1): Show | 4 | 444 | 0.0090 | -31 | c.205 others(48): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1011155 | ACACCCAC others(24): Show |
A | intron_variant | MODIFIER | HG02109.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0319a0001c0001t0015g0320 | 2 | 326 | 0.0061 | -31 | c.130 others(48): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1089399 | CAGGCTCG others(24): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00642.hp2 others(80): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0209a0001c0001t0002g0215a0001c0001t0002g0216others(80): Show | 83 | 326 | 0.2546 | -31 | c.129 others(50): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1089456 | CGGCTGAG others(24): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(137): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0080a0001c0001t0002g0208a0001c0001t0002g0211others(137): Show | 140 | 326 | 0.4295 | -31 | c.129 others(50): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85344215 | TTATATTA others(24): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0010t0001a0002c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0046others(18): Show | 25 | 324 | 0.0772 | -31 | c.-24 others(48): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61680478 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0247 | 3 | 374 | 0.0080 | -31 | c.165 others(46): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13346638 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0073 | a0003c0073t0042 | a0003c0073t0042g0026 | 1 | 218 | 0.0046 | -31 | c.979 others(50): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346640 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01975.hp1 HG02809.hp2 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0003c0094others(1): Show | a0001c0001t0001a0001c0005t0047a0003c0094t0018others(1): Show | a0001c0001t0001g0050a0001c0005t0047g0024a0003c0094t0018g0208others(1): Show | 4 | 218 | 0.0184 | -31 | c.979 others(50): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346644 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01169.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0002 | a0001c0001t0001g0019a0001c0001t0001g0193a0001c0001t0001g0194others(3): Show | 6 | 218 | 0.0275 | -31 | c.979 others(50): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497520 | AAATATAT others(24): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0020 | a0020c0074 | a0020c0074t0012 | a0020c0074t0012g0161 | 1 | 218 | 0.0046 | -31 | c.293 others(48): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2280180 | TTTGCTGT others(24): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01358.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0015others(19): Show | a0001c0001t0002g0027a0001c0001t0013g0024a0001c0001t0015g0034others(22): Show | 25 | 104 | 0.2404 | -31 | c.477 others(52): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2280518 | TACTTTGC others(24): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0012 | a0002c0009t0012g0061a0002c0009t0012g0062 | 2 | 104 | 0.0192 | -31 | c.477 others(52): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |