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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 165 | 0.0061 | 42 | c.-22 others(63): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737114 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0005a0001c0013a0002c0012others(1): Show | a0001c0005t0005a0001c0013t0001a0002c0012t0004others(1): Show | a0001c0005t0005g0067 a0001c0013t0001g0181 a0002c0012t0004g0346 others(1): Show |
4 | 374 | 0.0107 | 42 | c.157 others(61): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0A4_chr7_138701294_138803196 | 138737115 | A | AATATATA others(35): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02074.hp1 HG02630.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0007a0001c0008a0003c0004others(2): Show | a0001c0007t0001a0001c0008t0002a0003c0004t0002others(3): Show | a0001c0007t0001g0053 a0001c0008t0002g0099 a0003c0004t0002g0354 others(3): Show |
6 | 118 | 0.0508 | 42 | c.157 others(61): Show |
ATP6V0A4 | ENSG00000105929.16 | transcript | ENST00000310018.7 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ATP6V0D2_chr8_86093910_86159225 | 86148034 | T | TCCCTCTT others(35): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 358 | 0.0028 | 42 | c.640 others(59): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0010 | 1 | 36 | 0.0278 | 42 | c.77- others(57): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57712048 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 224 | 0.0045 | 42 | c.182 others(59): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085960 | T | TATATATG others(35): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 238 | 0.0042 | 42 | c.29- others(59): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50085960 | T | TATATATG others(35): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0149 | 1 | 238 | 0.0042 | 42 | c.29- others(59): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51636654 | T | TCCCCTCA others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0036a0001c0001t0063a0001c0003t0015others(1): Show | a0001c0001t0036g0119 a0001c0001t0063g0120 a0001c0003t0015g0115 others(3): Show |
6 | 310 | 0.0194 | 42 | c.166 others(61): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 2 | 0.5000 | 42 | c.119 others(59): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115381432 | A | ATTTTTTT others(35): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0037 | 1 | 34 | 0.0294 | 42 | c.317 others(63): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATXN3_chr14_92053552_92111582 | 92071009 | C | CGCTGCTG others(35): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp2 HG00673.hp2 HG03942.hp2 others(15): Show |
a0006 | a0006c0005a0006c0051 | a0006c0005t0001a0006c0005t0002a0006c0005t0013others(2): Show | a0006c0005t0001g0004 a0006c0005t0001g0050 a0006c0005t0001g0056 others(13): Show |
18 | 303 | 0.0594 | 42 | c.916 others(49): Show |
p.Gly others(54): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 946/6884 | 916/1086 | 306/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(35): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(12): Show |
a0006a0007 | a0006c0052a0007c0010a0007c0017 | a0006c0052t0011a0007c0010t0004a0007c0010t0006others(6): Show | a0006c0052t0011g0116 a0007c0010t0004g0326 a0007c0010t0006g0374 others(12): Show |
15 | 116 | 0.1293 | 42 | c.915 others(49): Show |
p.Gln others(55): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0219 | 1 | 190 | 0.0053 | 42 | c.578 others(57): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02027.hp1 HG02056.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0003g0177 a0001c0001t0007g0001 a0001c0001t0009g0141 others(3): Show |
6 | 195 | 0.0308 | 42 | c.578 others(57): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105664575 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 190 | 0.0053 | 42 | c.578 others(57): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(35): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp2 HG02818.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0030 others(13): Show |
16 | 67 | 0.2388 | 42 | c.355 others(61): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214581 | G | GATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 371 | 0.0027 | 42 | c.-40 others(53): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4007 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 214 | 0.0093 | 42 | c.-41 others(53): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG01109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(3): Show |
8 | 220 | 0.0364 | 42 | c.-41 others(53): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214607 | T | TATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01255.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0015 others(3): Show |
7 | 219 | 0.0320 | 42 | c.-41 others(53): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4033 | chr17 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70426881 | T | TATTTTAA others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0062 a0001c0001t0010g0065 |
2 | 76 | 0.0263 | 42 | c.661 others(59): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
B3GALT5_chr21_39607940_39678137 | 39639446 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0088 | 1 | 327 | 0.0031 | 42 | c.-39 others(61): Show |
B3GALT5 | ENSG00000183778.19 | transcript | ENST00000684187.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196186 | A | AATATATA others(35): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 113 | 0.0088 | 42 | c.-38 others(53): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3788 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 39 | 0.0256 | 42 | c.-38 others(53): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31316407 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0117 |
2 | 59 | 0.0339 | 42 | c.106 others(61): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 459904 | C | CGGGGCGG others(35): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA19066.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0007 | a0002c0003t0001g0159 a0002c0003t0007g0156 |
2 | 384 | 0.0052 | 42 | c.-47 others(51): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 34 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 459920 | G | GCGGGGGC others(35): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0282 | 1 | 392 | 0.0026 | 42 | c.-45 others(51): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 18 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 511717 | C | CACCTTCG others(35): Show |
intron_variant | MODIFIER | HG01516.hp1 NA19056.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0005a0003c0004t0003 | a0001c0002t0005g0075 a0003c0004t0003g0134 |
2 | 389 | 0.0051 | 42 | c.170 others(61): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 543299 | C | CCTCCCGG others(35): Show |
intron_variant | MODIFIER | NA18982.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 a0001c0001t0004g0106 |
2 | 392 | 0.0051 | 42 | c.352 others(58): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 543598 | T | TGGAGCTG others(35): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01081.hp2 others(29): Show |
a0004a0005a0009others(2): Show | a0004c0005a0004c0027a0004c0028others(5): Show | a0004c0005t0002a0004c0005t0003a0004c0005t0004others(25): Show | a0004c0005t0002g0202 a0004c0005t0003g0163 a0004c0005t0004g0281 others(29): Show |
32 | 354 | 0.0904 | 42 | c.352 others(57): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 543676 | T | TCTTCCCG others(35): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0161 | 1 | 392 | 0.0026 | 42 | c.352 others(57): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 544173 | A | ATGCTCAT others(35): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0036 a0001c0001t0022g0037 |
2 | 392 | 0.0051 | 42 | c.352 others(57): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374793 | A | AAGGGAGG others(35): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 160 | 0.0063 | 42 | c.784 others(57): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374804 | G | GGAGGAGG others(35): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 a0002c0002t0001g0083 |
2 | 172 | 0.0116 | 42 | c.784 others(57): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374861 | G | GAGGGAGG others(35): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0146 | 1 | 118 | 0.0085 | 42 | c.784 others(57): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28026963 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 144 | 0.0069 | 42 | c.495 others(59): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0004 | a0001c0004t0043 | a0001c0004t0043g0169 | 1 | 53 | 0.0189 | 42 | c.-16 others(63): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0280 | 1 | 158 | 0.0063 | 42 | c.128 others(59): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAK1_chr6_33567552_33585276 | 33583018 | C | CATCTCTA others(35): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 432 | 0.0023 | 42 | c.-30 others(53): Show |
BAK1 | ENSG00000030110.14 | transcript | ENST00000374467.4 | protein_coding | 2743 | chr6 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75547205 | C | CCTTCTCC others(35): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01243.hp2 HG02080.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0065 a0001c0001t0001g0106 a0001c0001t0001g0107 others(7): Show |
12 | 259 | 0.0463 | 42 | c.*53 others(51): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 214 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34832215 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0046 | 1 | 174 | 0.0057 | 42 | c.393 others(59): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 3/26 | chr14 | TogoVar | |||||||
BBS1_chr11_66505635_66538598 | 66512020 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0002 | a0001c0001t0002g0252 a0001c0013t0002g0251 |
2 | 378 | 0.0053 | 42 | c.159 others(57): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591641 | T | TACACACA others(35): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp2 HG02970.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0034 others(6): Show |
11 | 308 | 0.0357 | 42 | c.194 others(59): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107591656 | A | ACACACAC others(35): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 203 | 0.0049 | 42 | c.194 others(59): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114583288 | T | TACCTGAA others(35): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 412 | 0.0024 | 42 | c.-17 others(53): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1674 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61322810 | G | GAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0062 | 1 | 74 | 0.0135 | 42 | c.242 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322832 | G | GAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0037 a0002c0003t0002g0036 |
2 | 68 | 0.0294 | 42 | c.242 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322832 | G | GAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0051 | 1 | 67 | 0.0149 | 42 | c.242 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322858 | G | GAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0004 | 1 | 70 | 0.0143 | 42 | c.242 others(63): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |