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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01257.hp2 |
a0003a0004a0025 | a0003c0002a0004c0003a0025c0030 | a0003c0002t0003a0004c0003t0001a0025c0030t0001 | a0003c0002t0003g0123a0004c0003t0001g0115a0025c0030t0001g0140 | 3 | 378 | 0.0079 | 11 | c.758 others(26): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 394 | 0.0025 | 11 | c.*61 others(22): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004424 | A | AGAGGGGA others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18941.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0009a0001c0002t0023 | a0001c0001t0004g0256a0001c0002t0009g0234a0001c0002t0023g0255 | 3 | 394 | 0.0076 | 11 | c.-14 others(30): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004568 | A | AGAGGGGA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 394 | 0.0025 | 11 | c.-14 others(30): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004981 | A | AGGGGAGT others(4): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0094 | 1 | 394 | 0.0025 | 11 | c.-14 others(30): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40035891 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 HG02257.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0012a0001c0001t0021others(1): Show | a0001c0001t0003g0020a0001c0001t0003g0042a0001c0001t0003g0178others(8): Show | 11 | 378 | 0.0291 | 11 | c.-49 others(22): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4837 | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40054193 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01255.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0202a0001c0001t0003g0203a0001c0001t0003g0210others(3): Show | 6 | 378 | 0.0159 | 11 | c.-10 others(28): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17394748 | G | GATACAAC others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 206 | 0.0049 | 11 | c.-2+ others(26): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 206 | 0.0049 | 11 | c.-2+ others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTGTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01243.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0078others(5): Show | 8 | 206 | 0.0388 | 11 | c.222 others(30): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17438433 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 206 | 0.0049 | 11 | c.222 others(30): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17440606 | C | CTGTGTGG others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 206 | 0.0049 | 11 | c.222 others(30): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17496027 | T | TGGCGGGG others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0070 | 1 | 206 | 0.0049 | 11 | c.301 others(30): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 206 | 0.0049 | 11 | c.301 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500384 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 206 | 0.0049 | 11 | c.301 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17529640 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03579.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065a0001c0003t0001g0082a0001c0003t0001g0088others(1): Show | 4 | 206 | 0.0194 | 11 | c.637 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0115a0001c0002t0006g0133 | 2 | 206 | 0.0097 | 11 | c.637 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01517.hp1 HG01928.hp1 HG01975.hp2 others(8): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0008t0001 | a0001c0002t0001g0072a0001c0002t0001g0108a0001c0002t0002g0073others(8): Show | 11 | 206 | 0.0534 | 11 | c.637 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529651 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 206 | 0.0049 | 11 | c.637 others(28): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85406259 | A | AAAAAAGA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0002 | a0001c0002t0001g0214a0001c0002t0001g0219a0001c0002t0001g0220others(18): Show | 41 | 410 | 0.1000 | 11 | c.-14 others(28): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735917 | C | CGGGGGTT others(4): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0073 | 1 | 342 | 0.0029 | 11 | c.158 others(28): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735972 | C | CGGGGCGG others(4): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 342 | 0.0029 | 11 | c.158 others(28): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735972 | C | CGGGGGTT others(4): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0011 | a0011c0016 | a0011c0016t0005 | a0011c0016t0005g0263 | 1 | 342 | 0.0029 | 11 | c.158 others(28): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736050 | C | CGGGGGGT others(4): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0022 | a0022c0035 | a0022c0035t0002 | a0022c0035t0002g0206 | 1 | 342 | 0.0029 | 11 | c.158 others(26): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38742850 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01071.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0024a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0024t0001others(4): Show | a0001c0001t0001g0064a0001c0001t0005g0283a0001c0001t0005g0284others(12): Show | 15 | 342 | 0.0439 | 11 | c.307 others(26): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38749044 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG01884.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0001c0026others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(5): Show | a0001c0001t0003g0005a0001c0001t0003g0277a0001c0001t0003g0281others(13): Show | 19 | 342 | 0.0556 | 11 | c.-48 others(22): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4571 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAGAAAG others(4): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0299 | 1 | 384 | 0.0026 | 11 | c.-33 others(28): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30805747 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0020others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0136a0001c0001t0001g0153a0001c0001t0001g0160others(96): Show | 99 | 384 | 0.2578 | 11 | c.-33 others(28): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTC others(4): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0175 | 1 | 326 | 0.0031 | 11 | c.164 others(28): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0113 | 1 | 326 | 0.0031 | 11 | c.128 others(28): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 538935 | G | GTTCTTTG others(4): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0022 | 1 | 410 | 0.0024 | 11 | c.-23 others(28): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544746 | T | TCGCCTCC others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03041.hp2 others(2): Show |
a0001a0009 | a0001c0001a0001c0004a0001c0072others(1): Show | a0001c0001t0002a0001c0004t0002a0001c0072t0004others(2): Show | a0001c0001t0002g0299a0001c0004t0002g0327a0001c0072t0004g0395others(2): Show | 5 | 410 | 0.0122 | 11 | c.-22 others(28): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544791 | T | TCGCCTCC others(4): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01515.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 2 | 410 | 0.0049 | 11 | c.-22 others(28): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544831 | C | CTCACGTC others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0002a0016 | a0002c0035a0016c0034 | a0002c0035t0004a0016c0034t0001 | a0002c0035t0004g0400a0016c0034t0001g0399 | 2 | 410 | 0.0049 | 11 | c.-22 others(28): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223710590 | C | CATCAACC others(4): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 378 | 0.0027 | 11 | c.-20 others(22): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 1948 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223737721 | G | GGGCGGGG others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 2 | 378 | 0.0053 | 11 | c.308 others(28): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223741435 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0338 | 1 | 378 | 0.0027 | 11 | c.308 others(28): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223746475 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01071.hp1 others(72): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0007a0001c0047others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0007a0001c0002t0001g0014a0001c0002t0001g0024others(70): Show | 75 | 378 | 0.1984 | 11 | c.561 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223751618 | C | CAGCTGCA others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01069.hp1 others(65): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0003a0001c0005others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(13): Show | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0001g0009others(64): Show | 68 | 378 | 0.1799 | 11 | c.900 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 7/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223751618 | C | CAGCTGCA others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0352 | 1 | 378 | 0.0027 | 11 | c.900 others(26): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 7/20 | chr1 | TogoVar | ||||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0030others(26): Show | 37 | 376 | 0.0984 | 11 | c.103 others(28): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230769666 | T | TATCTATC others(4): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0389 | 1 | 394 | 0.0025 | 11 | c.789 others(26): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230774740 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027a0001c0002t0001g0083a0001c0002t0001g0084others(4): Show | 7 | 394 | 0.0178 | 11 | c.953 others(26): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230800306 | G | GAAAGAAA others(4): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 394 | 0.0025 | 11 | c.204 others(30): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0238 | 2 | 246 | 0.0081 | 11 | c.*43 others(22): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013 | 1 | 378 | 0.0027 | 11 | c.-32 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758008 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182 | 1 | 378 | 0.0027 | 11 | c.-32 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3058 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAAAAAAT others(4): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 378 | 0.0027 | 11 | c.-33 others(22): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0083a0002c0002t0001g0050 | 3 | 402 | 0.0075 | 11 | c.137 others(28): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18951.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0254a0001c0001t0001g0256 | 3 | 402 | 0.0075 | 11 | c.137 others(28): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar |