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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN3_chr15_42354501_42417317 | 42385523 | T | TACACAC | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG03098.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0012a0003c0005t0001g0013a0003c0005t0001g0014others(3): Show | 6 | 306 | 0.0196 | 6 | c.380 others(21): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGT | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00741.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0015a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0168a0001c0001t0001g0244a0001c0001t0001g0249others(54): Show | 60 | 382 | 0.1571 | 6 | c.-36 others(21): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77079783 | T | TTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00609.hp1 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0100a0001c0001t0001g0108others(67): Show | 72 | 382 | 0.1885 | 6 | c.-35 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77125614 | C | CTATATA | 3_prime_UTR_variant | MODIFIER | HG02004.hp1 NA18948.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036 | a0001c0001t0027g0135a0001c0001t0027g0162a0001c0001t0036g0306 | 3 | 382 | 0.0079 | 6 | c.*17 others(17): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTG | 5_prime_UTR_variant | MODIFIER | HG02630.hp2 HG02976.hp1 |
a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0054a0002c0003t0012g0055 | 2 | 242 | 0.0083 | 6 | c.-40 others(13): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230761555 | A | AACACAC | intron_variant | MODIFIER | NA18951.hp2 NA19007.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0183a0001c0001t0001g0231 | 3 | 394 | 0.0076 | 6 | c.403 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230765212 | G | GACACAC | intron_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG02027.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0009a0003c0004others(5): Show | a0001c0002t0001a0002c0009t0001a0003c0004t0001others(5): Show | a0001c0002t0001g0083a0001c0002t0001g0084a0001c0002t0001g0086others(13): Show | 16 | 394 | 0.0406 | 6 | c.537 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPNS1_chr19_36135066_36155353 | 36145203 | C | CTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01952.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0083a0001c0001t0001g0084others(2): Show | 8 | 480 | 0.0167 | 6 | c.457 others(21): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAPNS1_chr19_36135066_36155353 | 36152530 | C | CGGGGCT | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01928.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0005a0004c0007t0005 | a0001c0001t0005g0043a0001c0001t0005g0147a0001c0001t0005g0148others(2): Show | 6 | 480 | 0.0125 | 6 | c.*26 others(17): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2178 | chr19 | TogoVar | ||||||
CAPNS2_chr16_55561684_55572687 | 55572624 | A | ATTGACT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(385): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0002c0003t0001g0000others(1): Show | 388 | 412 | 0.9418 | 6 | c.*51 others(17): Show |
CAPNS2 | ENSG00000256812.2 | transcript | ENST00000457326.3 | protein_coding | 4938 | chr16 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | AATATAT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00735.hp1 others(54): Show |
a0003a0004a0009 | a0003c0003a0003c0016a0004c0007others(1): Show | a0003c0003t0001a0003c0016t0001a0004c0007t0001others(1): Show | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0012others(42): Show | 57 | 378 | 0.1508 | 6 | c.-32 others(17): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758008 | A | AATATAT | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02109.hp1 HG02451.hp1 others(6): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0032a0002c0002t0001g0196a0002c0002t0001g0197others(6): Show | 9 | 378 | 0.0238 | 6 | c.-32 others(17): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3058 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75291567 | G | GTATATA | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01496.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0099a0001c0001t0002g0243others(4): Show | 9 | 370 | 0.0243 | 6 | c.112 others(23): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919160 | T | TAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02040.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0233a0001c0001t0001g0234others(5): Show | 11 | 402 | 0.0274 | 6 | c.137 others(23): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35940827 | C | CATCTAT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02723.hp1 HG02886.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0006 | a0002c0002t0001g0205a0002c0002t0003g0273a0002c0002t0003g0274others(4): Show | 7 | 402 | 0.0174 | 6 | c.-22 others(17): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2206 | chr5 | TogoVar | ||||||
CAPS_chr19_5909254_5921211 | 5910675 | A | AAACAAC | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG01168.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0010g0001 | 24 | 396 | 0.0606 | 6 | c.-36 others(17): Show |
CAPS | ENSG00000105519.18 | transcript | ENST00000588776.8 | protein_coding | 3578 | chr19 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112638897 | C | CATAGAT | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp1 HG01081.hp2 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0052a0001c0001t0001g0059others(23): Show | 27 | 368 | 0.0734 | 6 | c.40- others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112644184 | C | CTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01175.hp2 others(25): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0041a0001c0001t0001g0048others(24): Show | 28 | 368 | 0.0761 | 6 | c.40- others(21): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0001t0001g0034others(40): Show | 46 | 368 | 0.1250 | 6 | c.426 others(23): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116901881 | A | ATATGTG | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0002g0132a0001c0001t0002g0168a0001c0001t0002g0179others(13): Show | 16 | 354 | 0.0452 | 6 | 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 | 116901881 | A | ATGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0035others(10): Show | a0001c0001t0001g0296a0001c0001t0001g0297a0001c0001t0010g0172others(76): Show | 80 | 354 | 0.2260 | 6 | 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 | 116903233 | A | AGTGTGT | intron_variant | MODIFIER | HG01106.hp1 HG02683.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0135a0001c0001t0002g0159a0001c0001t0002g0277others(1): Show | 4 | 354 | 0.0113 | 6 | c.220 others(21): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116914432 | T | TACACAC | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01256.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0002t0004 | a0001c0001t0005g0350a0001c0001t0011g0007a0001c0002t0004g0301others(12): Show | 15 | 354 | 0.0424 | 6 | c.658 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116919868 | A | AAATAAT | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0301a0001c0002t0004g0302a0001c0002t0004g0303others(23): Show | 26 | 354 | 0.0735 | 6 | c.*20 others(17): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 10/10 | 2027 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CAPZA3_chr12_18733119_18744188 | 18739512 | T | TGTGAGA | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 392 | 0.0128 | 6 | c.*34 others(15): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 325 | chr12 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCACACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0007t0001g0000others(2): Show | 153 | 392 | 0.3903 | 6 | c.*29 others(17): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19350611 | A | AAAAGTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(279): Show | 282 | 364 | 0.7747 | 6 | c.589 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19363260 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(49): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0048others(49): Show | 52 | 364 | 0.1429 | 6 | c.330 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATAT | intron_variant | MODIFIER | HG00621.hp2 HG03225.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0166others(1): Show | 4 | 364 | 0.0110 | 6 | c.330 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19383446 | C | CAAAAAA | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG04228.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0063a0001c0002t0001g0098a0001c0002t0003g0143others(3): Show | 6 | 364 | 0.0165 | 6 | c.215 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp2 NA18906.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0026a0001c0001t0001g0118others(5): Show | 8 | 364 | 0.0220 | 6 | c.93+ others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19422729 | A | AAACAAC | intron_variant | MODIFIER | HG02074.hp2 HG03130.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0119a0001c0001t0001g0193a0001c0001t0001g0282others(3): Show | 6 | 364 | 0.0165 | 6 | c.4-2 others(19): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19450154 | A | AAAAAAG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0081a0001c0001t0001g0088others(13): Show | 16 | 364 | 0.0440 | 6 | c.4-3 others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19469741 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01106.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0034others(20): Show | 23 | 364 | 0.0632 | 6 | c.3+1 others(21): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37510301 | G | GCTCCTT | conservative_inframe_insertion | MODERATE | HG00642.hp1 HG02451.hp1 HG02965.hp2 others(2): Show |
a0004a0010 | a0004c0015a0004c0031a0010c0030 | a0004c0015t0001a0004c0015t0008a0004c0031t0002others(1): Show | a0004c0015t0001g0089a0004c0015t0001g0102a0004c0015t0008g0125others(2): Show | 5 | 276 | 0.0181 | 6 | c.814 others(13): Show |
p.Glu others(19): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/20 | 1034/4111 | 819/3099 | 273/1032 | chr22 | TogoVar | ||
CARD10_chr22_37485362_37524415 | 37512465 | C | CCACACA | intron_variant | MODIFIER | HG00323.hp2 HG02165.hp1 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0007a0001c0026a0001c0041others(2): Show | a0001c0007t0001a0001c0026t0011a0001c0041t0001others(3): Show | a0001c0007t0001g0134a0001c0026t0011g0015a0001c0041t0001g0149others(4): Show | 7 | 276 | 0.0254 | 6 | c.700 others(23): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACG | intron_variant | MODIFIER | HG01081.hp2 HG01978.hp1 HG02083.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0012a0001c0042others(2): Show | a0001c0002t0001a0001c0002t0007a0001c0012t0002others(3): Show | a0001c0002t0001g0009a0001c0002t0001g0120a0001c0002t0007g0213others(4): Show | 7 | 322 | 0.0217 | 6 | c.314 others(23): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933722 | T | TTCTTTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01257.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0078a0001c0001t0001g0178a0001c0002t0001g0046others(12): Show | 15 | 322 | 0.0466 | 6 | c.151 others(23): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933730 | C | CTTTCTT | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 HG03130.hp1 |
a0001 | a0001c0010a0001c0044 | a0001c0010t0002a0001c0044t0003 | a0001c0010t0002g0034a0001c0010t0002g0097a0001c0044t0003g0267 | 3 | 322 | 0.0093 | 6 | c.151 others(23): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3004562 | A | ATGTGTG | intron_variant | MODIFIER | HG01192.hp1 HG02451.hp1 HG02486.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(10): Show | a0001c0001t0001g0127a0001c0001t0001g0302a0001c0002t0001g0108others(15): Show | 18 | 322 | 0.0559 | 6 | c.-12 others(27): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3007450 | T | TTCCTCC | intron_variant | MODIFIER | HG00621.hp2 HG02559.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0127a0001c0001t0001g0162others(8): Show | 11 | 322 | 0.0342 | 6 | c.-12 others(27): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp1 others(21): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0038others(21): Show | 24 | 322 | 0.0745 | 6 | c.-12 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80173298 | G | GCACACA | intron_variant | MODIFIER | HG03041.hp1 HG03139.hp1 HG03195.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0063others(2): Show | a0001c0001t0002a0001c0007t0002a0001c0063t0002others(2): Show | a0001c0001t0002g0019a0001c0007t0002g0020a0001c0063t0002g0014others(2): Show | 5 | 376 | 0.0133 | 6 | c.-36 others(21): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80175952 | G | GTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02109.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0056a0003c0016a0004c0003others(1): Show | a0001c0056t0002a0003c0016t0002a0004c0003t0002others(1): Show | a0001c0056t0002g0144a0003c0016t0002g0199a0003c0016t0002g0200others(4): Show | 7 | 376 | 0.0186 | 6 | c.-36 others(25): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD18_chr11_105132714_105144769 | 105144372 | G | GATATAT | upstream_gene_variant | MODIFIER | HG02015.hp2 NA18612.hp2 NA18949.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 432 | 0.0069 | 6 | c.-46 others(17): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4604 | chr11 | TogoVar | ||||||
CARD18_chr11_105132714_105144769 | 105144372 | G | GTGATAT | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG02004.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0002t0001g0006 | 19 | 432 | 0.0440 | 6 | c.-46 others(17): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4604 | chr11 | TogoVar | ||||||
CARD6_chr5_40836367_40860354 | 40850413 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(53): Show |
a0001a0009a0011others(1): Show | a0001c0002a0009c0009a0011c0012others(1): Show | a0001c0002t0001a0001c0002t0008a0009c0009t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0009a0001c0002t0001g0017others(19): Show | 56 | 440 | 0.1273 | 6 | c.842 others(23): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48210098 | T | TAAAGAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0008a0001c0010others(6): Show | a0001c0002t0001a0001c0002t0013a0001c0008t0004others(20): Show | a0001c0002t0001g0207a0001c0002t0001g0237a0001c0002t0001g0239others(107): Show | 125 | 362 | 0.3453 | 6 | c.*16 others(17): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 14/14 | 1611 | chr19 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48252803 | G | GTATATA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02896.hp2 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0017a0001c0002t0062a0004c0007t0059 | a0001c0002t0017g0265a0001c0002t0062g0322a0004c0007t0059g0323 | 3 | 362 | 0.0083 | 6 | c.-25 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48252808 | T | TATATAC | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01433.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0011a0001c0003t0016a0001c0003t0065others(12): Show | a0001c0002t0011g0319a0001c0003t0016g0316a0001c0003t0016g0317others(19): Show | 26 | 362 | 0.0718 | 6 | c.-25 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar |