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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN2_chr1_223707539_223781018 | 223719831 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18961.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0003 | a0001c0003t0002g0332a0001c0010t0003g0326a0001c0010t0003g0327others(1): Show | 4 | 378 | 0.0106 | 8 | 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 | 223720315 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03209.hp1 HG04199.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0002t0001g0079a0001c0002t0001g0094a0001c0002t0003g0081others(3): Show | 6 | 378 | 0.0159 | 8 | 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 | 223758689 | C | CCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 HG02155.hp1 others(11): Show |
a0004a0009a0010 | a0004c0008a0009c0019a0009c0034others(1): Show | a0004c0008t0004a0009c0019t0004a0009c0034t0004others(1): Show | a0004c0008t0004g0099a0004c0008t0004g0107a0004c0008t0004g0108others(11): Show | 14 | 378 | 0.0370 | 8 | c.131 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 11/20 | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42374986 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18984.hp2 NA19077.hp2 |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0028 | a0001c0001t0001a0002c0002t0001a0015c0028t0001 | a0001c0001t0001g0158a0002c0002t0001g0056a0015c0028t0001g0080 | 3 | 306 | 0.0098 | 8 | c.310 others(25): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01167.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0160a0001c0001t0001g0222a0001c0001t0001g0224others(28): Show | 31 | 382 | 0.0812 | 8 | c.-36 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77068889 | T | TAAGTTGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(2): Show | a0001c0001t0029g0362a0001c0001t0051g0364a0001c0001t0052g0363others(2): Show | 5 | 382 | 0.0131 | 8 | 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 | 77079783 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0102a0001c0001t0001g0117a0001c0001t0001g0134others(14): Show | 17 | 382 | 0.0445 | 8 | c.-35 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77125614 | C | CTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01952.hp1 HG02300.hp2 NA18980.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0025a0001c0001t0058a0004c0005t0040 | a0001c0001t0025g0111a0001c0001t0025g0247a0001c0001t0058g0049others(1): Show | 4 | 382 | 0.0105 | 8 | c.*17 others(19): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN5_chr11_77061971_77131155 | 77125639 | T | TATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0163a0001c0001t0020g0164a0001c0001t0020g0166 | 3 | 382 | 0.0079 | 8 | c.*17 others(19): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN6_chrX_111240099_111275483 | 111249830 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 242 | 0.0041 | 8 | c.115 others(25): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 8/12 | chrX | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230757011 | T | TGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG01433.hp2 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0074a0001c0002t0001g0165a0001c0002t0001g0186others(11): Show | 14 | 394 | 0.0355 | 8 | c.283 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230765212 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02615.hp1 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0085a0003c0004t0001g0082a0003c0004t0001g0101others(2): Show | 5 | 394 | 0.0127 | 8 | c.537 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230774723 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01168.hp1 others(33): Show |
a0001a0005a0009others(2): Show | a0001c0005a0005c0035a0009c0020others(2): Show | a0001c0005t0001a0005c0035t0001a0009c0020t0001others(2): Show | a0001c0005t0001g0002a0001c0005t0001g0032a0001c0005t0001g0034others(32): Show | 36 | 394 | 0.0914 | 8 | c.953 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230800231 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01981.hp2 HG02027.hp1 others(13): Show |
a0001a0005a0012 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0197a0001c0001t0001g0211a0001c0001t0001g0220others(13): Show | 16 | 394 | 0.0406 | 8 | c.204 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPNS1_chr19_36135066_36155353 | 36138003 | A | AATTTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(160): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(90): Show | 163 | 480 | 0.3396 | 8 | c.-21 others(19): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2062 | chr19 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | AATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02080.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0007others(7): Show | 13 | 378 | 0.0344 | 8 | c.-32 others(19): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75291567 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp1 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0019 | a0001c0001t0001g0320a0001c0001t0002g0230a0001c0001t0002g0246others(1): Show | 4 | 370 | 0.0108 | 8 | c.112 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75291598 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18951.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023a0001c0001t0002g0255 | 3 | 370 | 0.0081 | 8 | c.112 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112617715 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 NA18948.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0069others(1): Show | 4 | 368 | 0.0109 | 8 | c.-21 others(19): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2116 | chr1 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02132.hp1 HG03710.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0027a0001c0001t0001g0035others(11): Show | 14 | 368 | 0.0380 | 8 | c.426 others(25): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116859874 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0005 | a0001c0001t0001g0223a0001c0001t0001g0245a0001c0001t0001g0347others(3): Show | 6 | 354 | 0.0170 | 8 | c.-27 others(19): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0248a0001c0001t0001g0266a0001c0001t0001g0290others(12): Show | 16 | 354 | 0.0452 | 8 | c.40- others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116901881 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(13): Show | a0001c0001t0001g0117a0001c0001t0001g0197a0001c0001t0001g0198others(82): Show | 87 | 354 | 0.2458 | 8 | c.220 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116901881 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0001g0328a0001c0002t0003g0020a0001c0002t0003g0044others(19): Show | 22 | 354 | 0.0622 | 8 | c.220 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116903233 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0297a0001c0001t0002g0163a0001c0001t0036g0292 | 3 | 354 | 0.0085 | 8 | c.220 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0001t0032g0103a0001c0002t0003g0001a0001c0002t0003g0018others(54): Show | 58 | 354 | 0.1638 | 8 | c.426 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116914432 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02071.hp1 HG02293.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0035a0001c0002t0004others(1): Show | a0001c0001t0010g0172a0001c0001t0035g0100a0001c0002t0004g0303others(9): Show | 12 | 354 | 0.0339 | 8 | c.658 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116925513 | A | AATAGGTA others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036a0001c0001t0037 | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0001g0299others(3): Show | 6 | 354 | 0.0170 | 8 | c.*76 others(19): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 3465 | chr7 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18736583 | A | AAATTTGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(181): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0007t0001g0000others(3): Show | 184 | 392 | 0.4694 | 8 | c.-16 others(19): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 1535 | chr12 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 15 | 392 | 0.0383 | 8 | c.*29 others(19): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19383446 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 NA18955.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0361a0001c0002t0003g0187a0001c0002t0003g0188others(4): Show | 7 | 364 | 0.0192 | 8 | c.215 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19442009 | C | CAAAACAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0016others(63): Show | 66 | 364 | 0.1813 | 8 | c.4-2 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19469741 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0092a0001c0001t0001g0114others(14): Show | 17 | 364 | 0.0467 | 8 | c.3+1 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37512465 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0022 | a0001c0003t0001a0002c0001t0004a0002c0001t0009others(1): Show | a0001c0003t0001g0150a0002c0001t0004g0172a0002c0001t0009g0119others(2): Show | 5 | 276 | 0.0181 | 8 | c.700 others(25): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2912719 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0005others(6): Show | a0001c0001t0001g0319a0001c0006t0001g0128a0001c0006t0001g0190others(13): Show | 16 | 322 | 0.0497 | 8 | c.302 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2912758 | C | CCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(72): Show |
a0001a0006a0008others(2): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(14): Show | a0001c0001t0001g0026a0001c0001t0001g0041a0001c0001t0001g0042others(72): Show | 75 | 322 | 0.2329 | 8 | c.302 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920599 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0006t0001others(4): Show | a0001c0004t0001g0022a0001c0004t0001g0070a0001c0004t0001g0226others(7): Show | 10 | 322 | 0.0311 | 8 | c.227 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920600 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00621.hp2 others(43): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0055a0001c0001t0001g0319others(43): Show | 46 | 322 | 0.1429 | 8 | c.227 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920692 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(21): Show | a0001c0001t0001g0124a0001c0001t0001g0126a0001c0001t0001g0137others(34): Show | 37 | 322 | 0.1149 | 8 | c.227 others(27): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933658 | A | ATCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(17): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0103a0001c0002t0001g0086others(17): Show | 20 | 322 | 0.0621 | 8 | c.151 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2969413 | T | TTCACTCA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(56): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(21): Show | a0001c0001t0001g0042a0001c0001t0001g0119a0001c0001t0001g0158others(56): Show | 59 | 322 | 0.1832 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984500 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01074.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0008a0001c0001t0001g0036a0001c0001t0001g0112others(14): Show | 17 | 322 | 0.0528 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2998481 | T | TTGAGACC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(48): Show | a0001c0001t0001g0008a0001c0001t0001g0026a0001c0001t0001g0038others(151): Show | 154 | 322 | 0.4783 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01934.hp2 others(20): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0103a0001c0001t0001g0280others(20): Show | 23 | 322 | 0.0714 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3047735 | A | AATACATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01884.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0280a0001c0002t0001g0277a0001c0003t0001g0272others(13): Show | 16 | 322 | 0.0497 | 8 | c.-41 others(19): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 3869 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01496.hp2 others(4): Show |
a0001a0005a0013 | a0001c0024a0001c0025a0005c0004others(1): Show | a0001c0024t0011a0001c0025t0004a0005c0004t0001others(1): Show | a0001c0024t0011g0360a0001c0024t0011g0361a0001c0024t0011g0362others(4): Show | 7 | 376 | 0.0186 | 8 | c.-69 others(27): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80171201 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01975.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0006others(5): Show | a0001c0001t0002a0002c0002t0001a0003c0006t0002others(5): Show | a0001c0001t0002g0176a0001c0001t0002g0177a0002c0002t0001g0175others(6): Show | 9 | 376 | 0.0239 | 8 | c.-69 others(27): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(11): Show | a0001c0001t0002a0001c0012t0001a0002c0002t0001others(15): Show | a0001c0001t0002g0004a0001c0001t0002g0178a0001c0012t0001g0098others(53): Show | 58 | 376 | 0.1543 | 8 | c.159 others(25): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD18_chr11_105132714_105144769 | 105135036 | G | GAACAAAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(203): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(9): Show | 206 | 432 | 0.4769 | 8 | c.*30 others(19): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 2677 | chr11 | TogoVar | ||||||
CARD19_chr9_93091217_93118283 | 93106414 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0017a0001c0001t0002g0108a0001c0004t0002g0041others(2): Show | 9 | 358 | 0.0251 | 8 | c.8-1 others(21): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |