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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRWD3_chrX_80664503_80814877 | 80726341 | ATGTCTGT others(24): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(79): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(38): Show | a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 others(78): Show |
82 | 263 | 0.3118 | -31 | c.138 others(50): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 14/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80803096 | CATCTCAA others(24): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 263 | 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(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0092 others(27): Show |
30 | 263 | 0.1141 | -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 | a0001c0001t0082 | a0001c0001t0082g0018 | 1 | 433 | 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 | 430 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(69): Show |
72 | 203 | 0.3547 | -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 | a0001c0001t0135 | a0001c0001t0135g0095 | 1 | 220 | 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 | a0001c0001t0062a0001c0001t0063 | a0001c0001t0062g0090 a0001c0001t0063g0184 |
2 | 192 | 0.0104 | -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 | a0001c0001t0064 | a0001c0001t0064g0133 | 1 | 222 | 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 | a0011 | a0011c0021 | a0011c0021t0002 | a0011c0021t0002g0045 | 1 | 204 | 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 | a0001c0001t0001g0138 | 1 | 216 | 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 | a0001c0001t0001g0148 | 1 | 328 | 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 | a0001c0001t0001g0124 | 1 | 342 | 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 | a0001c0001t0014g0125 | 1 | 340 | 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 | a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 others(3): Show |
10 | 342 | 0.0292 | -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 | a0001c0001t0002g0100 a0001c0001t0003g0005 a0001c0001t0003g0097 others(1): Show |
4 | 338 | 0.0118 | -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 | a0001c0003t0001g0124 a0004c0007t0005g0121 |
2 | 379 | 0.0053 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0030 others(56): Show |
59 | 156 | 0.3782 | -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 |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0233 others(103): Show |
106 | 324 | 0.3272 | -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 | a0001c0001t0001g0011 | 1 | 324 | 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 | a0001c0001t0001g0075 a0001c0001t0002g0002 |
2 | 361 | 0.0055 | -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 | a0001c0001t0002g0222 a0001c0001t0002g0233 |
2 | 376 | 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 | a0008c0007t0001g0211 a0008c0007t0001g0212 a0008c0007t0001g0216 |
3 | 231 | 0.0130 | -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 |
a0002a0024 | a0002c0003a0024c0024 | a0002c0003t0001a0024c0024t0001 | a0002c0003t0001g0078 a0024c0024t0001g0203 |
2 | 298 | 0.0067 | -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 | a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 others(113): Show |
116 | 200 | 0.5800 | -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 | a0001c0001t0004g0013 a0001c0004t0004g0004 |
4 | 320 | 0.0125 | -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 | a0003 | a0003c0017 | a0003c0017t0005 | a0003c0017t0005g0170 | 1 | 320 | 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 | 217 | 0.0046 | -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 | 309 | 0.0032 | -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 | a0001c0001t0021g0022 a0001c0001t0034g0031 a0001c0001t0101g0080 others(1): Show |
4 | 263 | 0.0152 | -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 | 114 | 0.0088 | -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 |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 94 | 0.0106 | -31 | c.*20 others(42): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 419 | chr19 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73809887 | GTATTCTA others(24): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 210 | 0.0048 | -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 | a0001c0001t0001g0118 a0003c0003t0001g0029 a0003c0003t0001g0053 others(1): Show |
6 | 324 | 0.0185 | -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 | a0001c0001t0086 | a0001c0001t0086g0034 | 1 | 386 | 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 | a0001c0001t0085a0002c0002t0010a0002c0002t0074 | a0001c0001t0085g0035 a0002c0002t0010g0291 a0002c0002t0010g0292 others(1): Show |
4 | 364 | 0.0110 | -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 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0274 a0001c0001t0002g0294 a0001c0001t0002g0320 others(27): Show |
30 | 382 | 0.0785 | -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 | a0001c0001t0001g0218 | 1 | 364 | 0.0027 | -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 | 338 | 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 | a0001c0001t0002g0356 a0002c0002t0005g0353 a0003c0009t0001g0099 others(1): Show |
4 | 442 | 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 | a0001c0001t0015g0316 a0001c0001t0015g0317 |
2 | 324 | 0.0062 | -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 |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0009others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0220 others(80): Show |
83 | 324 | 0.2562 | -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(136): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0080 a0001c0001t0002g0209 a0001c0001t0002g0216 others(136): Show |
139 | 324 | 0.4290 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0051 others(17): Show |
25 | 322 | 0.0776 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0248 |
3 | 180 | 0.0167 | -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 | a0003c0073t0003 | a0003c0073t0003g0035 | 1 | 212 | 0.0047 | -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 | a0001c0001t0001a0001c0005t0021a0003c0094t0002others(1): Show | a0001c0001t0001g0049 a0001c0005t0021g0021 a0003c0094t0002g0208 others(1): Show |
4 | 208 | 0.0192 | -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 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0181 others(3): Show |
6 | 200 | 0.0300 | -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 | a0017 | a0017c0074 | a0017c0074t0005 | a0017c0074t0005g0162 | 1 | 193 | 0.0052 | -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 | a0001c0001t0002g0032 a0001c0001t0013g0026 a0001c0001t0015g0016 others(22): Show |
25 | 99 | 0.2525 | -31 | c.477 others(52): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |