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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 114 | 0.0088 | 23 | c.*16 others(34): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0052 | 1 | 114 | 0.0088 | 23 | c.*16 others(34): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41911388 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0221 | 1 | 291 | 0.0034 | 23 | c.953 others(38): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 7/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947144 | C | CTCTCTCT others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0279 | 1 | 393 | 0.0025 | 23 | c.280 others(40): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146710 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0024 | a0024c0024 | a0024c0024t0001 | a0024c0024t0001g0203 | 1 | 200 | 0.0050 | 23 | c.484 others(40): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2orf42_chr2_70144885_70196019 | 70148291 | T | TGGAGCCC others(16): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0062 others(8): Show |
11 | 344 | 0.0320 | 23 | c.*20 others(34): Show |
C2orf42 | ENSG00000115998.8 | transcript | ENST00000264434.7 | protein_coding | 1593 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199913242 | A | AATATATA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0246 a0001c0001t0002g0247 others(1): Show |
7 | 165 | 0.0424 | 23 | c.333 others(40): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6710030 | A | AGAGAGAG others(16): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0287 | 1 | 368 | 0.0027 | 23 | c.168 others(40): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6710034 | A | AGAGGGAG others(16): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 368 | 0.0027 | 23 | c.168 others(40): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 13/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6718664 | C | CAGAAAGG others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0146 | 1 | 368 | 0.0027 | 23 | c.268 others(38): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 2/40 | chr19 | TogoVar | |||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
2 | 32 | 0.0625 | 23 | c.*55 others(34): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 NA18939.hp1 NA18949.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0012 | a0001c0001t0002g0046 a0001c0001t0002g0067 a0001c0001t0002g0129 others(2): Show |
5 | 129 | 0.0388 | 23 | c.*90 others(34): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG02074.hp2 NA18967.hp2 |
a0002 | a0002c0002 | a0002c0002t0026a0002c0002t0070 | a0002c0002t0026g0248 a0002c0002t0026g0273 a0002c0002t0070g0228 |
3 | 258 | 0.0116 | 23 | c.*37 others(34): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | ||||||
C3orf80_chr3_160220422_160233213 | 160223765 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02004.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0006g0000 |
6 | 126 | 0.0476 | 23 | c.-18 others(34): Show |
C3orf80 | ENSG00000180044.6 | transcript | ENST00000326474.5 | protein_coding | 1656 | chr3 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0189 a0001c0001t0003g0243 a0001c0001t0005g0180 others(5): Show |
8 | 147 | 0.0544 | 23 | c.-72 others(42): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0178 a0001c0001t0036g0269 |
2 | 174 | 0.0115 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02486.hp1 NA19068.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0053others(1): Show | a0001c0001t0003g0320 a0001c0001t0012g0174 a0001c0001t0053g0092 others(1): Show |
4 | 176 | 0.0227 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01928.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0055 | a0001c0001t0001g0234 a0001c0001t0002g0330 a0001c0006t0055g0343 |
3 | 175 | 0.0171 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 173 | 0.0058 | 23 | c.*57 others(34): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf45_chr4_158888134_159040229 | 159013807 | A | AATGAAGC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(248): Show |
256 | 262 | 0.9771 | 23 | c.64+ others(40): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185443343 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03209.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 a0001c0001t0004g0040 a0001c0001t0004g0113 |
3 | 349 | 0.0086 | 23 | c.715 others(40): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CAAAACAA others(16): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0005 | 1 | 275 | 0.0036 | 23 | c.-24 others(34): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40916084 | C | CAGTTAAA others(16): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0002g0140 others(7): Show |
10 | 378 | 0.0265 | 23 | c.6+6 others(36): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 999412 | A | AGCTTGCA others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0002g0258 |
3 | 324 | 0.0093 | 23 | c.405 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 999429 | A | ACAATCGG others(16): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0014g0156 others(3): Show |
6 | 128 | 0.0469 | 23 | c.405 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016765 | A | ACAGCAGC others(16): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01515.hp2 others(29): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 others(29): Show |
32 | 210 | 0.1524 | 23 | c.130 others(40): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56870681 | T | TAAATTAA others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02622.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0107 a0001c0001t0001g0215 a0003c0003t0002g0276 others(2): Show |
5 | 357 | 0.0140 | 23 | c.171 others(40): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68331770 | C | CTTTCCTT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 116 | 0.0086 | 23 | c.327 others(38): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp2 |
a0002a0010 | a0002c0004a0010c0009 | a0002c0004t0002a0010c0009t0001 | a0002c0004t0002g0121 a0010c0009t0001g0091 |
2 | 8 | 0.2500 | 23 | c.327 others(38): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68491670 | A | ATCATGCA others(16): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0079 | 1 | 126 | 0.0079 | 23 | c.765 others(40): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02896.hp1 HG02922.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0054 others(8): Show |
11 | 58 | 0.1897 | 23 | c.140 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0040 | 1 | 108 | 0.0093 | 23 | c.154 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0069 | 1 | 108 | 0.0093 | 23 | c.154 others(42): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0078 a0001c0001t0001g0087 others(1): Show |
4 | 53 | 0.0755 | 23 | c.*20 others(34): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | |||||||
C9orf72_chr9_27541546_27578481 | 27573523 | C | CGCCCCGG others(16): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 | 1 | 7 | 0.1429 | 23 | c.-13 others(32): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 43 | chr9 | TogoVar | |||||||
C9orf85_chr9_71906639_71978457 | 71913765 | A | ACTTGTAC others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | 248 | 0.0081 | 23 | c.102 others(40): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63376557 | C | CTTTCTTT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0153 | 1 | 147 | 0.0068 | 23 | c.86- others(36): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376599 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01256.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0214 |
2 | 352 | 0.0057 | 23 | c.86- others(36): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8955611 | A | ACCTTCCA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00639.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0030 a0001c0001t0001g0208 a0001c0001t0001g0274 others(40): Show |
44 | 415 | 0.1060 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8955611 | A | ACCTTGCA others(16): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0298 | 1 | 372 | 0.0027 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8955616 | G | GCACGCCT others(16): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02055.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0362 others(11): Show |
19 | 130 | 0.1462 | 23 | c.260 others(40): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0314 a0001c0001t0011g0315 |
2 | 208 | 0.0096 | 23 | c.501 others(38): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAGAAAG others(16): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0116 | 1 | 107 | 0.0093 | 23 | c.*29 others(34): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01934.hp1 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0165 a0001c0001t0001g0184 others(4): Show |
7 | 173 | 0.0405 | 23 | c.565 others(40): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230748829 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 250 | 0.0040 | 23 | c.-43 others(42): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0021a0001c0001t0071a0001c0001t0072others(1): Show | a0001c0001t0021g0168 a0001c0001t0071g0177 a0001c0001t0072g0176 others(1): Show |
4 | 249 | 0.0161 | 23 | c.115 others(40): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61666952 | G | GTATAAAT others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00621.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0144 others(47): Show |
54 | 372 | 0.1452 | 23 | c.60+ others(38): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61679329 | C | CTATATCT others(16): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03209.hp2 HG03471.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0003a0001c0001t0007a0004c0009t0008 | a0001c0001t0003g0289 a0001c0001t0007g0264 a0004c0009t0008g0263 |
3 | 154 | 0.0195 | 23 | c.165 others(40): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48028497 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18960.hp2 NA19082.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0007 a0003c0004t0004g0131 |
3 | 202 | 0.0149 | 23 | c.*20 others(34): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 885 | chr19 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48029837 | A | AGAGAGAG others(16): Show |
3_prime_UTR_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0134 | 1 | 365 | 0.0027 | 23 | c.*71 others(32): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 719 | chr19 | TogoVar |