| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CAPN12_chr19_38725192_38749474 | 38735927 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735952 | CGGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02723.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0004a0005c0007others(1): Show | a0001c0001t0001a0002c0004t0001a0005c0007t0003others(1): Show | a0001c0001t0001g0049a0002c0004t0001g0048a0002c0004t0001g0057others(2): Show | 5 | 342 | 0.0146 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735973 | GGGGCGGG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0254a0001c0001t0009g0255 | 2 | 342 | 0.0059 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38735982 | CAGGGGTT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0029 | a0006c0029t0003 | a0006c0029t0003g0308 | 1 | 342 | 0.0029 | -10 | c.158 others(27): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
| CAPN12_chr19_38725192_38749474 | 38739710 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0047a0001c0001t0001g0049a0001c0001t0001g0050others(4): Show | 7 | 342 | 0.0205 | -10 | c.729 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 5/20 | chr19 | TogoVar | ||||||
| CAPN13_chr2_30717771_30812446 | 30725250 | AAACATAT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0003others(2): Show | a0001c0001t0003g0009a0001c0001t0003g0036a0001c0001t0003g0043others(30): Show | 33 | 384 | 0.0859 | -10 | c.*31 others(27): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 22/22 | chr2 | TogoVar | ||||||
| CAPN13_chr2_30717771_30812446 | 30737966 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02523.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244a0001c0001t0003g0298a0001c0001t0003g0321 | 3 | 384 | 0.0078 | -10 | c.165 others(27): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
| CAPN14_chr2_31168056_31222515 | 31179060 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp2 HG02622.hp2 others(4): Show |
a0002a0016a0017others(1): Show | a0002c0002a0002c0004a0016c0026others(2): Show | a0002c0002t0020a0002c0004t0009a0016c0026t0020others(3): Show | a0002c0002t0020g0296a0002c0004t0009g0147a0016c0026t0020g0298others(4): Show | 7 | 326 | 0.0215 | -10 | c.171 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
| CAPN14_chr2_31168056_31222515 | 31181384 | TTTTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0094 | 1 | 326 | 0.0031 | -10 | c.164 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
| CAPN14_chr2_31168056_31222515 | 31203829 | GCACAGGC others(3): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0279a0001c0001t0019g0280 | 2 | 326 | 0.0061 | -10 | c.226 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
| CAPN14_chr2_31168056_31222515 | 31210460 | CATAAAAT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(209): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0011others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(44): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008others(192): Show | 212 | 326 | 0.6503 | -10 | c.-52 others(27): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 527438 | GCCCCGCC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG03579.hp1 |
a0004 | a0004c0018a0004c0019 | a0004c0018t0014a0004c0019t0003 | a0004c0018t0014g0007a0004c0019t0003g0275 | 3 | 410 | 0.0073 | -10 | c.-78 others(19): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 273 | chr16 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 535811 | AGGCCCGG others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0040 | a0002c0040t0001 | a0002c0040t0001g0360 | 1 | 410 | 0.0024 | -10 | c.-13 others(27): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 540260 | ACCCGGGT others(3): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0263 | 1 | 410 | 0.0024 | -10 | c.-23 others(27): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 558060 | CCCAAAGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0019 | a0019c0050 | a0019c0050t0018 | a0019c0050t0018g0225 | 1 | 410 | 0.0024 | -10 | c.*45 others(21): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3425 | chr16 | TogoVar | ||||||
| CAPN2_chr1_223707539_223781018 | 223742496 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0321 | 1 | 378 | 0.0027 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN2_chr1_223707539_223781018 | 223742514 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03139.hp2 HG03225.hp1 others(2): Show |
a0001a0005 | a0001c0010a0001c0022a0005c0009 | a0001c0010t0003a0001c0022t0003a0005c0009t0001 | a0001c0010t0003g0325a0001c0010t0003g0327a0001c0022t0003g0264others(2): Show | 5 | 378 | 0.0132 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN2_chr1_223707539_223781018 | 223742516 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18999.hp2 NA20300.hp1 NA20805.hp1 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0326a0001c0010t0003g0328a0001c0010t0003g0329 | 3 | 378 | 0.0079 | -10 | c.308 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN3_chr15_42354501_42417317 | 42380368 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0135a0001c0001t0001g0136a0002c0006t0001g0002others(1): Show | 5 | 306 | 0.0163 | -10 | c.310 others(27): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CAPN3_chr15_42354501_42417317 | 42398590 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0001c0020others(7): Show | a0001c0001t0001a0001c0013t0001a0001c0020t0001others(7): Show | a0001c0001t0001g0007a0001c0013t0001g0280a0001c0013t0001g0281others(12): Show | 16 | 306 | 0.0523 | -10 | c.119 others(27): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CAPN3_chr15_42354501_42417317 | 42416896 | AAAGCCTG others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02723.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0284a0001c0001t0001g0285a0001c0001t0001g0286others(4): Show | 7 | 306 | 0.0229 | -10 | c.*51 others(21): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 4580 | chr15 | TogoVar | ||||||
| CAPN5_chr11_77061971_77131155 | 77062019 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(115): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0100others(112): Show | 118 | 382 | 0.3089 | -10 | c.-51 others(21): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 4951 | chr11 | TogoVar | ||||||
| CAPN5_chr11_77061971_77131155 | 77067632 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(2): Show | a0001c0001t0029g0362a0001c0001t0051g0364a0001c0001t0052g0363others(2): Show | 5 | 382 | 0.0131 | -10 | c.-36 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CAPN5_chr11_77061971_77131155 | 77076136 | CAGATCAC others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02145.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0222a0001c0002t0002g0210a0001c0002t0003g0213others(8): Show | 11 | 382 | 0.0288 | -10 | c.-35 others(27): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CAPN5_chr11_77061971_77131155 | 77085100 | CCACAAGG others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 382 | 0.0026 | -10 | c.165 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | chr11 | TogoVar | ||||||
| CAPN5_chr11_77061971_77131155 | 77093598 | CGTCTGTG others(3): Show |
C | intron_variant | MODIFIER | NA18997.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301a0001c0001t0001g0332 | 2 | 382 | 0.0052 | -10 | c.166 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CAPN7_chr3_15201246_15257916 | 15229553 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0006a0001c0001t0004g0016a0001c0001t0004g0043others(5): Show | 12 | 376 | 0.0319 | -10 | c.938 others(25): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230751585 | CAAAGAAA others(3): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0028 | 1 | 394 | 0.0025 | -10 | c.214 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230751599 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02895.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0004others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0250a0002c0006t0001g0251a0002c0006t0001g0329others(3): Show | 6 | 394 | 0.0152 | -10 | c.214 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230759690 | GCATTTCC others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02486.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0013a0006c0010others(1): Show | a0001c0001t0001a0002c0013t0001a0002c0013t0002others(2): Show | a0001c0001t0001g0098a0002c0013t0001g0028a0002c0013t0001g0081others(10): Show | 13 | 394 | 0.0330 | -10 | c.402 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230765212 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02129.hp1 HG02300.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0007 | a0001c0001t0001a0001c0005t0001a0004c0007t0001 | a0001c0001t0001g0219a0001c0005t0001g0032a0001c0005t0001g0033others(4): Show | 7 | 394 | 0.0178 | -10 | c.537 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN9_chr1_230742388_230806989 | 230780081 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01169.hp1 others(36): Show |
a0002a0010a0013others(2): Show | a0002c0006a0002c0009a0002c0031others(5): Show | a0002c0006t0001a0002c0009t0001a0002c0031t0001others(5): Show | a0002c0006t0001g0006a0002c0006t0001g0007a0002c0006t0001g0011others(36): Show | 39 | 394 | 0.0990 | -10 | c.111 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPRIN1_chr11_34046731_34107610 | 34087329 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 246 | 0.0041 | -10 | c.123 others(27): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CAPRIN1_chr11_34046731_34107610 | 34103735 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053a0001c0001t0005g0054 | 2 | 246 | 0.0081 | -10 | c.*43 others(21): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | ||||||
| CAPRIN2_chr12_30704553_30759951 | 30712733 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG01169.hp2 others(7): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(1): Show | a0002c0002t0001g0033a0002c0002t0001g0238a0002c0002t0001g0239others(6): Show | 10 | 378 | 0.0265 | -10 | c.250 others(29): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 17/18 | chr12 | TogoVar | ||||||
| CAPRIN2_chr12_30704553_30759951 | 30734849 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG03453.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0001a0001c0009t0001 | a0001c0004t0001g0253a0001c0004t0001g0255a0001c0004t0001g0256others(1): Show | 4 | 378 | 0.0106 | -10 | c.566 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
| CAPRIN2_chr12_30704553_30759951 | 30734878 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 HG02886.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014a0002c0002t0001g0041a0002c0002t0001g0051others(4): Show | 9 | 378 | 0.0238 | -10 | c.566 others(23): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
| CAPRIN2_chr12_30704553_30759951 | 30751907 | GTATTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0181 | 1 | 378 | 0.0027 | -10 | c.178 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | ||||||
| CAPRIN2_chr12_30704553_30759951 | 30751909 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0219a0002c0006t0001g0220 | 2 | 378 | 0.0053 | -10 | c.178 others(25): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 2/18 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75291480 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0074a0001c0001t0002g0217others(28): Show | 33 | 370 | 0.0892 | -10 | c.112 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75291567 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(1): Show | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0001t0001g0238others(4): Show | 7 | 370 | 0.0189 | -10 | c.112 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75300555 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02129.hp1 NA18941.hp1 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0246a0001c0001t0002g0301a0001c0001t0005g0257 | 3 | 370 | 0.0081 | -10 | c.666 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 8/16 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75311699 | GGAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18942.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0098a0001c0001t0001g0099others(1): Show | 4 | 370 | 0.0108 | -10 | c.545 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
| CAPS2_chr12_75270979_75335324 | 75311702 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0275a0001c0001t0004g0136a0001c0001t0004g0151others(2): Show | 5 | 370 | 0.0135 | -10 | c.545 others(27): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 7/16 | chr12 | TogoVar | ||||||
| CAPSL_chr5_35899288_35943622 | 35939393 | TCTGACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009 | 2 | 402 | 0.0050 | -10 | c.-86 others(19): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 772 | chr5 | TogoVar | ||||||
| CAPSL_chr5_35899288_35943622 | 35939396 | GACACACA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(54): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(45): Show | 57 | 402 | 0.1418 | -10 | c.-86 others(19): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 775 | chr5 | TogoVar | ||||||
| CAPZA1_chr1_112614832_112676616 | 112617713 | TCTCTCAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02965.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0009 | a0001c0001t0003g0014a0001c0003t0009g0255a0001c0003t0009g0256others(2): Show | 5 | 368 | 0.0136 | -10 | c.-21 others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2118 | chr1 | TogoVar | ||||||
| CAPZA1_chr1_112614832_112676616 | 112617715 | TCTCACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0002g0133others(2): Show | 5 | 368 | 0.0136 | -10 | c.-21 others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2116 | chr1 | TogoVar | ||||||
| CAPZA1_chr1_112614832_112676616 | 112668706 | GAACTCCT others(3): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 368 | 0.0027 | -10 | c.658 others(25): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
| CAPZA2_chr7_116857587_116927049 | 116859912 | TTCTTTCT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01934.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0187a0001c0001t0002g0132a0001c0002t0004g0306others(1): Show | 4 | 354 | 0.0113 | -10 | c.-26 others(21): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2674 | chr7 | TogoVar |