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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN11_chr6_44153820_44189401 | 44162368 | GACACAC | G | intron_variant | MODIFIER | HG00323.hp1 HG02071.hp2 HG02602.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0328 a0001c0001t0001g0367 a0001c0001t0002g0264 others(13): Show |
16 | 460 | 0.0348 | -6 | c.16+ others(21): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181449 | TCACACA | T | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 NA19043.hp2 |
a0005a0007 | a0005c0010a0007c0007 | a0005c0010t0001a0007c0007t0001 | a0005c0010t0001g0226 a0007c0007t0001g0287 a0007c0007t0001g0303 |
3 | 460 | 0.0065 | -6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181609 | CCACACT | C | intron_variant | MODIFIER | HG03704.hp1 NA18941.hp2 NA18961.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 a0002c0002t0001g0231 a0002c0002t0001g0232 others(2): Show |
5 | 460 | 0.0109 | -6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181622 | CACACAT | C | intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0002a0004c0004t0001 | a0003c0003t0002g0382 a0003c0003t0002g0383 a0004c0004t0001g0005 |
4 | 460 | 0.0087 | -6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181742 | TCACACA | T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG02015.hp1 others(15): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0007others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0087 a0001c0001t0001g0205 others(13): Show |
18 | 460 | 0.0391 | -6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181947 | CCACACT | C | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp2 NA19043.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0197 a0007c0007t0001g0287 a0007c0007t0001g0303 |
3 | 460 | 0.0065 | -6 | c.193 others(23): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38739486 | GAGAGAC | G | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(29): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0004a0011c0034others(2): Show | a0001c0001t0001a0001c0001t0014a0002c0004t0001others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(29): Show |
32 | 342 | 0.0936 | -6 | c.729 others(21): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 5/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30737966 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0023others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0284 a0001c0001t0002g0047 a0001c0001t0002g0061 others(93): Show |
97 | 384 | 0.2526 | -6 | c.165 others(23): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30806402 | TAACAAC | T | intron_variant | MODIFIER | HG00423.hp2 HG02886.hp1 NA18612.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0002g0249 others(16): Show |
19 | 384 | 0.0495 | -6 | c.-33 others(21): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31179060 | CTATATA | C | intron_variant | MODIFIER | HG02055.hp1 HG02895.hp1 HG02897.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0012others(2): Show | a0001c0001t0014a0002c0002t0012a0002c0012t0026others(3): Show | a0001c0001t0014g0090 a0002c0002t0012g0282 a0002c0002t0012g0283 others(9): Show |
13 | 326 | 0.0399 | -6 | c.171 others(23): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31211226 | GAAAGAA | G | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp2 HG01517.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0004a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0003t0003g0287 others(7): Show |
10 | 326 | 0.0307 | -6 | c.-52 others(23): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN1_chr11_65176928_65217006 | 65201816 | CTTTTGT | C | intron_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show |
4 | 394 | 0.0102 | -6 | c.116 others(25): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223730010 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01258.hp1 HG01891.hp2 others(28): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0007others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0001g0006 a0001c0002t0001g0079 a0001c0002t0001g0084 others(27): Show |
31 | 378 | 0.0820 | -6 | c.307 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223742496 | GTGTATA | G | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG03471.hp1 others(1): Show |
a0007 | a0007c0017a0007c0037 | a0007c0017t0007a0007c0037t0007 | a0007c0017t0007g0335 a0007c0017t0007g0343 a0007c0017t0007g0348 others(1): Show |
4 | 378 | 0.0106 | -6 | c.308 others(23): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223742518 | ATTTTTT | A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0006 a0001c0002t0001g0057 a0001c0002t0001g0084 others(7): Show |
10 | 378 | 0.0265 | -6 | c.308 others(23): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42398590 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp1 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0003a0002c0002a0002c0004others(4): Show | a0001c0003t0001a0002c0002t0001a0002c0004t0001others(4): Show | a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0043 others(19): Show |
22 | 306 | 0.0719 | -6 | c.119 others(23): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77125614 | CTATATA | C | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02818.hp2 NA19043.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0017a0001c0002t0050a0002c0003t0017 | a0001c0001t0017g0101 a0001c0001t0017g0232 a0001c0002t0050g0361 others(1): Show |
4 | 382 | 0.0105 | -6 | c.*17 others(17): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1765 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15222012 | AGTATAC | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0014 | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0009g0031 others(2): Show |
6 | 376 | 0.0160 | -6 | c.638 others(23): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15229561 | CTTTTTT | C | intron_variant | MODIFIER | NA18975.hp1 NA18984.hp2 NA18991.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0112 |
6 | 376 | 0.0160 | -6 | c.938 others(21): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230746265 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(28): Show |
31 | 394 | 0.0787 | -6 | c.-12 others(17): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1122 | chr1 | TogoVar | |||||||
CAPN9_chr1_230742388_230806989 | 230751603 | AAGAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0003 a0001c0003t0001g0343 a0001c0003t0001g0344 others(2): Show |
5 | 394 | 0.0127 | -6 | c.214 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230765212 | GACACAC | G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01168.hp1 others(30): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0048 a0001c0002t0001g0215 a0001c0002t0001g0297 others(29): Show |
33 | 394 | 0.0838 | -6 | c.537 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230774735 | CTTTCTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01070.hp1 others(36): Show |
a0002a0004a0010others(3): Show | a0002c0006a0002c0033a0004c0007others(4): Show | a0002c0006t0001a0002c0033t0001a0004c0007t0001others(4): Show | a0002c0006t0001g0006 a0002c0006t0001g0007 a0002c0006t0001g0011 others(36): Show |
39 | 394 | 0.0990 | -6 | c.953 others(21): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230780081 | CGTGTGT | C | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01106.hp1 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0005a0002c0006others(10): Show | a0001c0003t0001a0001c0005t0001a0002c0006t0001others(13): Show | a0001c0003t0001g0356 a0001c0003t0001g0361 a0001c0003t0001g0363 others(51): Show |
54 | 394 | 0.1371 | -6 | c.111 others(21): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230800217 | AAATAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01175.hp2 others(7): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0007 | a0001c0003t0001a0003c0004t0001a0004c0007t0001 | a0001c0003t0001g0016 a0001c0003t0001g0346 a0001c0003t0001g0352 others(7): Show |
10 | 394 | 0.0254 | -6 | c.204 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36152530 | CGGGGCT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(25): Show |
62 | 480 | 0.1292 | -6 | c.*26 others(17): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2178 | chr19 | TogoVar | |||||||
CAPRIN1_chr11_34046731_34107610 | 34066691 | TGCAGTG | T | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01884.hp1 others(24): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0002 | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 others(24): Show |
27 | 246 | 0.1098 | -6 | c.217 others(23): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0072 a0001c0001t0001g0076 others(5): Show |
8 | 246 | 0.0325 | -6 | c.*43 others(17): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734849 | AACACAC | A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0093 a0001c0004t0001g0242 a0001c0009t0001g0225 others(13): Show |
17 | 378 | 0.0450 | -6 | c.566 others(21): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30734882 | ACACACT | A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00639.hp2 others(74): Show |
a0003a0010a0012 | a0003c0003a0003c0018a0010c0019others(1): Show | a0003c0003t0001a0003c0018t0001a0010c0019t0001others(1): Show | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(49): Show |
77 | 378 | 0.2037 | -6 | c.566 others(19): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291480 | CATATAT | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(57): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0060 others(50): Show |
60 | 370 | 0.1622 | -6 | c.112 others(23): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291567 | GTATATA | G | intron_variant | MODIFIER | HG01496.hp2 HG01952.hp2 HG01978.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0002g0304 others(6): Show |
10 | 370 | 0.0270 | -6 | c.112 others(23): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35939396 | GACACAC | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00741.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0014 others(23): Show |
33 | 402 | 0.0821 | -6 | c.-86 others(15): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 775 | chr5 | TogoVar | |||||||
CAPS_chr19_5909254_5921211 | 5910675 | AAACAAC | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0007 others(11): Show |
110 | 396 | 0.2778 | -6 | c.-36 others(17): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617717 | TCACACA | T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02071.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0023 a0001c0001t0002g0102 a0001c0001t0003g0196 others(2): Show |
5 | 368 | 0.0136 | -6 | c.-21 others(17): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2114 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112627636 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 HG01099.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0097 a0001c0001t0001g0146 a0001c0001t0001g0241 others(10): Show |
13 | 368 | 0.0353 | -6 | c.39+ others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112638897 | CATAGAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(161): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 others(153): Show |
164 | 368 | 0.4457 | -6 | c.40- others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116920246 | AAATAAT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(119): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0032a0001c0002t0003others(11): Show | a0001c0001t0010g0172 a0001c0001t0032g0103 a0001c0002t0003g0001 others(118): Show |
122 | 354 | 0.3446 | -6 | c.*23 others(17): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 10/10 | 2391 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA3_chr12_18733119_18744188 | 18739482 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG02083.hp1 HG02258.hp1 NA19005.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 392 | 0.0179 | -6 | c.*31 others(15): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 295 | chr12 | TogoVar | |||||||
CAPZA3_chr12_18733119_18744188 | 18739508 | TGTGTGA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(168): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0007t0001g0000 others(3): Show |
171 | 392 | 0.4362 | -6 | c.*34 others(15): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 321 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366283 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01496.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0072 others(3): Show |
6 | 364 | 0.0165 | -6 | c.330 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366305 | TATATAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(39): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0093 others(39): Show |
42 | 364 | 0.1154 | -6 | c.330 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19405541 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(5): Show |
8 | 364 | 0.0220 | -6 | c.93+ others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19416860 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0048 others(33): Show |
36 | 364 | 0.0989 | -6 | c.93+ others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19422729 | AAACAAC | A | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0306 a0001c0001t0002g0170 a0001c0001t0007g0115 others(1): Show |
4 | 364 | 0.0110 | -6 | c.4-2 others(19): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19423516 | CTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp1 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 others(73): Show |
76 | 364 | 0.2088 | -6 | c.4-3 others(19): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19443608 | ATTGTTG | A | intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(2): Show |
5 | 364 | 0.0137 | -6 | c.4-2 others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19469741 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 others(45): Show |
48 | 364 | 0.1319 | -6 | c.3+1 others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37510301 | GCTCCTT | G | conservative_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(102): Show |
a0001a0016a0019 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0201 a0001c0002t0002g0005 a0001c0002t0002g0006 others(95): Show |
105 | 276 | 0.3804 | -6 | c.814 others(13): Show |
p.Lys others(13): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 814/3099 | 272/1032 | chr22 | TogoVar | |||
CARD10_chr22_37485362_37524415 | 37512465 | CCACACA | C | intron_variant | MODIFIER | HG01169.hp1 HG01516.hp1 HG02109.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0016a0002c0001a0002c0046others(3): Show | a0001c0016t0001a0002c0001t0001a0002c0001t0006others(5): Show | a0001c0016t0001g0139 a0002c0001t0001g0134 a0002c0001t0001g0135 others(8): Show |
11 | 276 | 0.0399 | -6 | c.700 others(23): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar |