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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02165.hp2 NA18950.hp2 NA18960.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0058a0001c0001t0059a0003c0003t0055others(3): Show | a0001c0001t0058g0127 a0001c0001t0059g0195 a0003c0003t0055g0225 others(3): Show |
6 | 20 | 0.3000 | 7 | c.*72 others(16): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01071.hp1 others(20): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0003 | a0001c0001t0001a0003c0007t0001a0004c0003t0002 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(8): Show |
23 | 151 | 0.1523 | 7 | c.-34 others(18): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | |||||||
CHST13_chr3_126519155_126548291 | 126532442 | T | TGTATGTG | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01358.hp2 others(18): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0018 a0003c0005t0001g0020 a0003c0005t0001g0023 others(9): Show |
21 | 362 | 0.0580 | 7 | c.98- others(22): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126539777 | A | ACACACAC | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(46): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(15): Show |
49 | 362 | 0.1354 | 7 | c.181 others(24): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75499307 | G | GAATGGGA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0061 | a0001c0001t0005g0050 a0001c0001t0005g0079 a0001c0001t0010g0043 others(1): Show |
4 | 370 | 0.0108 | 7 | c.-44 others(18): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 3867 | chr16 | TogoVar | |||||||
CHST7_chrX_46568765_46603496 | 46578269 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0095 a0001c0001t0001g0154 a0001c0001t0001g0166 others(3): Show |
6 | 70 | 0.0857 | 7 | c.*31 others(24): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33710872 | G | GGTTTTTT | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0002t0001g0207 |
3 | 166 | 0.0181 | 7 | c.130 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 26975664 | T | TATATATA | intron_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01952.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0135 a0001c0001t0004g0052 others(18): Show |
21 | 258 | 0.0814 | 7 | c.203 others(26): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
CHST9_chr18_26901481_27190308 | 27138543 | C | CACAATTG | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0084a0001c0001t0086a0001c0001t0087others(3): Show | a0001c0001t0084g0212 a0001c0001t0086g0082 a0001c0001t0087g0257 others(3): Show |
6 | 260 | 0.0231 | 7 | c.121 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
CHSY3_chr5_129899465_130191634 | 129966088 | A | ATAGGCTG | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG03139.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0012 | a0001c0001t0006a0003c0012t0003 | a0001c0001t0006g0247 a0001c0001t0006g0253 a0003c0012t0003g0118 others(1): Show |
4 | 276 | 0.0145 | 7 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64925696 | C | CAAAAAAA | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 HG03704.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 a0001c0001t0005g0187 a0001c0001t0005g0189 others(2): Show |
6 | 110 | 0.0545 | 7 | c.176 others(22): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIB2_chr15_78099606_78136445 | 78113537 | T | TTTCTTTC | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0017 a0001c0001t0001g0131 a0001c0001t0001g0132 others(31): Show |
48 | 376 | 0.1277 | 7 | c.87- others(22): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
CIB3_chr19_16156368_16178525 | 16159722 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02723.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0004t0001g0022 others(2): Show |
8 | 111 | 0.0721 | 7 | c.*17 others(18): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 1645 | chr19 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26587304 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01099.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0029 others(28): Show |
32 | 43 | 0.7442 | 7 | c.329 others(24): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GAAAAAAA | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0019a0001c0005t0010 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 others(5): Show |
14 | 132 | 0.1061 | 7 | c.-48 others(18): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | |||||||
CIBAR2_chr16_85093358_85117472 | 85110720 | T | TTTTTTTC | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0025 a0001c0001t0002g0042 a0001c0001t0002g0043 others(27): Show |
48 | 411 | 0.1168 | 7 | c.21- others(20): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
CIDEA_chr18_12249361_12282595 | 12268229 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00673.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(48): Show |
61 | 148 | 0.4122 | 7 | c.330 others(24): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | chr18 | TogoVar | |||||||
CIDEC_chr3_9861714_9885253 | 9872181 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0005 | a0001c0002t0001g0037 a0001c0002t0001g0093 a0001c0002t0001g0095 others(20): Show |
30 | 396 | 0.0758 | 7 | c.208 others(24): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
CIDEC_chr3_9861714_9885253 | 9879161 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(152): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(74): Show |
155 | 269 | 0.5762 | 7 | c.-13 others(24): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0020others(11): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(54): Show | a0001c0001t0002g0270 a0001c0001t0007g0310 a0001c0001t0014g0236 others(65): Show |
68 | 77 | 0.8831 | 7 | c.53- others(22): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CILP_chr15_65189760_65216473 | 65191680 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(90): Show |
200 | 204 | 0.9804 | 7 | c.*50 others(18): Show |
CILP | ENSG00000138615.6 | transcript | ENST00000261883.6 | protein_coding | 3079 | chr15 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG02109.hp2 others(14): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0003t0003a0003c0005t0002others(2): Show | a0001c0001t0001g0002 a0001c0003t0003g0001 a0001c0003t0003g0004 others(12): Show |
17 | 133 | 0.1278 | 7 | c.232 others(24): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
CISD1_chr10_58264162_58294586 | 58271041 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0046 a0001c0001t0007g0020 |
6 | 362 | 0.0166 | 7 | c.31+ others(22): Show |
CISD1 | ENSG00000122873.12 | transcript | ENST00000333926.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102893281 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01168.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(21): Show |
34 | 143 | 0.2378 | 7 | c.*58 others(18): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 475 | chr4 | TogoVar | |||||||
CITED4_chr1_40856054_40867363 | 40860178 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(243): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(11): Show |
246 | 272 | 0.9044 | 7 | c.*13 others(18): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 875 | chr1 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119689666 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01934.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0005 | a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0007t0005g0218 others(2): Show |
5 | 64 | 0.0781 | 7 | c.618 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 47/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119717830 | A | ACTGACTT | intron_variant | MODIFIER | HG00733.hp1 HG01934.hp2 HG02630.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0012others(3): Show | a0001c0001t0001g0008 a0001c0006t0001g0131 a0001c0006t0001g0135 others(10): Show |
13 | 234 | 0.0556 | 7 | c.416 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 32/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119836284 | T | TAAAAAAA | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0013a0001c0015a0002c0004 | a0001c0013t0005a0001c0015t0006a0002c0004t0003others(1): Show | a0001c0013t0005g0029 a0001c0015t0006g0004 a0002c0004t0003g0044 others(2): Show |
5 | 80 | 0.0625 | 7 | c.517 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0007a0001c0009a0002c0004 | a0001c0007t0005a0001c0009t0009a0002c0004t0007others(1): Show | a0001c0007t0005g0218 a0001c0009t0009g0036 a0002c0004t0007g0055 others(2): Show |
5 | 76 | 0.0658 | 7 | c.239 others(24): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | |||||||
CIZ1_chr9_128161065_128196572 | 128188049 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG02074.hp2 HG02109.hp2 others(27): Show |
a0001a0008 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(23): Show |
30 | 65 | 0.4615 | 7 | c.287 others(22): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 3/16 | chr9 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112766828 | C | CATGGTGG | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0004t0006others(2): Show | a0001c0001t0001g0120 a0001c0001t0003g0039 a0001c0001t0003g0041 others(6): Show |
13 | 298 | 0.0436 | 7 | c.-22 others(18): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2220 | chr2 | TogoVar | |||||||
CKAP4_chr12_106232881_106253020 | 106237507 | A | ACAGAGCG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(135): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(16): Show | a0001c0002t0001g0070 a0001c0002t0002g0002 a0001c0002t0002g0004 others(44): Show |
138 | 416 | 0.3317 | 7 | c.*15 others(18): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 373 | chr12 | TogoVar | |||||||
CKMT1A_chr15_43688859_43704222 | 43696603 | G | GCTGTTGA | intron_variant | MODIFIER | HG01070.hp1 HG01099.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0003t0001g0013 others(2): Show |
8 | 390 | 0.0205 | 7 | c.876 others(22): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CKM_chr19_45301413_45327875 | 45301557 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02572.hp2 HG03654.hp1 HG03942.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0002 | a0001c0002t0001g0161 a0001c0002t0001g0198 a0001c0002t0001g0203 others(4): Show |
7 | 196 | 0.0357 | 7 | c.*51 others(18): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 4855 | chr19 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121478848 | C | CCACACCA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0001c0002t0008a0001c0002t0011others(4): Show | a0001c0002t0006g0162 a0001c0002t0006g0163 a0001c0002t0006g0164 others(18): Show |
21 | 175 | 0.1200 | 7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121479005 | A | ACACACCC | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG02027.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(1): Show | a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0110 others(8): Show |
11 | 212 | 0.0519 | 7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121479022 | A | ACACACAC | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(62): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0034a0001c0002t0005others(31): Show | a0001c0001t0002g0101 a0001c0001t0002g0110 a0001c0001t0002g0118 others(62): Show |
65 | 211 | 0.3081 | 7 | c.713 others(24): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 8/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121549706 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0034others(37): Show | a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0107 others(94): Show |
97 | 183 | 0.5301 | 7 | c.196 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121555988 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0010a0001c0002t0011a0001c0002t0017others(1): Show | a0001c0002t0010g0203 a0001c0002t0011g0137 a0001c0002t0011g0138 others(2): Show |
5 | 30 | 0.1667 | 7 | c.196 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121581260 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0074a0001c0002t0005a0001c0002t0006others(3): Show | a0001c0001t0074g0024 a0001c0002t0005g0145 a0001c0002t0005g0147 others(9): Show |
12 | 21 | 0.5714 | 7 | c.195 others(26): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33685342 | C | CAAAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG02040.hp2 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 others(8): Show |
11 | 101 | 0.1089 | 7 | c.547 others(22): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 5/38 | chr3 | TogoVar | |||||||
CLASP2_chr3_33491245_33723254 | 33695220 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01361.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0020 others(23): Show |
26 | 146 | 0.1781 | 7 | c.274 others(24): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 2/38 | chr3 | TogoVar | |||||||
CLCN4_chrX_10151975_10242660 | 10196538 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01070.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(47): Show |
51 | 158 | 0.3228 | 7 | c.433 others(24): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10206905 | T | TTGTTTTG | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0003g0160 others(3): Show |
6 | 221 | 0.0271 | 7 | c.843 others(22): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 8/12 | chrX | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 49973480 | C | CATTAGGT | intron_variant | MODIFIER | HG00738.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0168 a0001c0001t0004g0137 others(6): Show |
9 | 173 | 0.0520 | 7 | c.16+ others(24): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50007397 | T | TCTCTCTC | intron_variant | MODIFIER | HG01952.hp1 HG03710.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0052 a0001c0001t0008g0096 a0001c0001t0015g0141 |
3 | 47 | 0.0638 | 7 | c.17- others(24): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CLCN6_chr1_11801191_11848130 | 11801895 | G | GCCTGGGC | upstream_gene_variant | MODIFIER | HG02293.hp1 HG02698.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0030 | a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0036 others(3): Show |
6 | 288 | 0.0208 | 7 | c.-43 others(18): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 4295 | chr1 | TogoVar | |||||||
CLCN6_chr1_11801191_11848130 | 11814247 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00642.hp1 others(35): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0005g0026 others(24): Show |
38 | 268 | 0.1418 | 7 | c.148 others(24): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCN6_chr1_11801191_11848130 | 11830789 | C | CTATATAT | intron_variant | MODIFIER | HG02257.hp1 HG03130.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0143 a0001c0003t0004g0147 a0001c0003t0004g0148 |
3 | 206 | 0.0146 | 7 | c.124 others(26): Show |
CLCN6 | ENSG00000011021.23 | transcript | ENST00000346436.11 | protein_coding | 13/22 | chr1 | TogoVar | |||||||
CLCN7_chr16_1439935_1480028 | 1440500 | G | GAACAGAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01071.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0045a0001c0004t0004a0001c0005t0004others(7): Show | a0001c0001t0045g0229 a0001c0004t0004g0286 a0001c0005t0004g0038 others(20): Show |
23 | 387 | 0.0594 | 7 | c.*61 others(18): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 4434 | chr16 | TogoVar |