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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN14_chr2_31168056_31222515 | 31177459 | T | TAAACCCC others(9): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0021 | a0021c0030 | a0021c0030t0001 | a0021c0030t0001g0271 | 1 | 326 | 0.0031 | 16 | c.185 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 19/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTT others(9): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19065.hp1 NA19076.hp2 others(4): Show |
a0002a0007 | a0002c0002a0002c0004a0007c0009 | a0002c0002t0001a0002c0002t0020a0002c0004t0001others(2): Show | a0002c0002t0001g0210a0002c0002t0001g0255a0002c0002t0020g0296others(3): Show | 7 | 326 | 0.0215 | 16 | c.164 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02155.hp1 |
a0002a0006 | a0002c0004a0006c0007 | a0002c0004t0001a0006c0007t0008 | a0002c0004t0001g0131a0006c0007t0008g0275 | 2 | 326 | 0.0061 | 16 | c.128 others(33): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544707 | C | CCTCCCCA others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0217 | 1 | 410 | 0.0024 | 16 | c.-22 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544828 | C | CCCCCACG others(9): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0293 | 1 | 410 | 0.0024 | 16 | c.-22 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551129 | T | TGGTGAGG others(9): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0133 | 1 | 410 | 0.0024 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551154 | C | CCCCGGTC others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0002a0016 | a0002c0035a0016c0034 | a0002c0035t0004a0016c0034t0001 | a0002c0035t0004g0400a0016c0034t0001g0399 | 2 | 410 | 0.0049 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551171 | T | TCCCGGTC others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0304 | 1 | 410 | 0.0024 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551233 | G | GGGCCCCC others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0072 | a0001c0001t0001a0001c0072t0004 | a0001c0001t0001g0390a0001c0072t0004g0395 | 2 | 410 | 0.0049 | 16 | c.206 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551258 | T | TGTCGGTG others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03195.hp1 others(3): Show |
a0004a0025 | a0004c0019a0004c0025a0004c0077others(1): Show | a0004c0019t0001a0004c0019t0007a0004c0025t0003others(2): Show | a0004c0019t0001g0285a0004c0019t0007g0286a0004c0025t0003g0278others(3): Show | 6 | 410 | 0.0146 | 16 | c.206 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN1_chr11_65176928_65217006 | 65216393 | A | ATGAGTGG others(9): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 394 | 0.0025 | 16 | c.*51 others(27): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 4388 | chr11 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223746475 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0321 | 1 | 378 | 0.0027 | 16 | c.561 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260a0001c0001t0001g0279 | 2 | 306 | 0.0065 | 16 | c.310 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01123.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0108a0001c0001t0001g0180a0001c0001t0003g0109others(6): Show | 9 | 382 | 0.0236 | 16 | c.-36 others(31): 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(9): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 382 | 0.0026 | 16 | c.-35 others(33): 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(9): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0098 | 1 | 382 | 0.0026 | 16 | c.*17 others(27): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0046a0001c0001t0010g0047 | 2 | 376 | 0.0053 | 16 | c.103 others(33): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 246 | 0.0041 | 16 | c.*43 others(27): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919168 | A | ATTATATA others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0274a0002c0002t0003g0277a0002c0002t0003g0279 | 3 | 402 | 0.0075 | 16 | c.137 others(33): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | ATTATATA others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 402 | 0.0025 | 16 | c.137 others(33): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0209a0001c0001t0002g0128a0001c0001t0002g0156others(6): Show | 9 | 354 | 0.0254 | 16 | c.40- others(31): 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(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0350 | 1 | 354 | 0.0028 | 16 | c.220 others(33): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116903233 | A | AGAGTGTG others(9): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0294 | 1 | 354 | 0.0028 | 16 | c.220 others(31): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 392 | 0.0077 | 16 | c.*29 others(27): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCTCTCAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01256.hp1 others(20): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0000a0001c0009t0002g0000 | 23 | 392 | 0.0587 | 16 | c.*29 others(27): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATAAATA others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 364 | 0.0028 | 16 | c.330 others(33): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0134a0001c0001t0001g0152a0001c0001t0001g0343others(2): Show | 5 | 364 | 0.0137 | 16 | c.330 others(33): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01516.hp1 others(12): Show |
a0001a0014 | a0001c0001a0001c0008a0001c0011others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0073a0001c0001t0001g0079others(12): Show | 15 | 322 | 0.0466 | 16 | c.314 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920600 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0234 | 1 | 322 | 0.0031 | 16 | c.227 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920692 | C | CATCTATC others(9): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0096 | 1 | 322 | 0.0031 | 16 | c.227 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2941539 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0008a0001c0017a0001c0018 | a0001c0008t0001a0001c0017t0001a0001c0018t0001 | a0001c0008t0001g0032a0001c0008t0001g0275a0001c0008t0001g0315others(2): Show | 5 | 322 | 0.0155 | 16 | c.685 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2970318 | C | CTACTCAC others(9): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0280a0001c0003t0001g0004a0001c0008t0001g0062others(3): Show | 6 | 322 | 0.0186 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2970321 | C | CTCACTCA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(58): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(22): Show | a0001c0001t0001g0042a0001c0001t0001g0055a0001c0001t0001g0119others(58): Show | 61 | 322 | 0.1894 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984508 | C | CCTCCCTC others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0008a0001c0016 | a0001c0008t0001a0001c0016t0001 | a0001c0008t0001g0032a0001c0008t0001g0033a0001c0016t0001g0094 | 3 | 322 | 0.0093 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984538 | T | TCCCTCCC others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01261.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(5): Show | a0001c0001t0001g0102a0001c0001t0001g0152a0001c0001t0001g0166others(10): Show | 13 | 322 | 0.0404 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3004562 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01261.hp2 others(11): Show |
a0001a0003a0018 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0200a0001c0002t0001g0120a0001c0003t0001g0005others(11): Show | 14 | 322 | 0.0435 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(33): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0038a0001c0001t0001g0065a0001c0001t0001g0102others(33): Show | 36 | 322 | 0.1118 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008668 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02132.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0015t0001others(1): Show | a0001c0001t0001g0209a0001c0003t0001g0143a0001c0003t0001g0235others(2): Show | 5 | 322 | 0.0155 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0062 | 1 | 322 | 0.0031 | 16 | c.-12 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80170090 | G | GTCAGCCT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0012others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0007t0002others(16): Show | a0001c0001t0002g0019a0001c0001t0002g0025a0001c0001t0004g0026others(25): Show | 28 | 376 | 0.0745 | 16 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp2 others(1): Show |
a0001a0004 | a0001c0021a0004c0031 | a0001c0021t0007a0004c0031t0007 | a0001c0021t0007g0049a0001c0021t0007g0050a0001c0021t0007g0051others(1): Show | 4 | 376 | 0.0106 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80171193 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0296 | 1 | 376 | 0.0027 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80171205 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0043 | 1 | 376 | 0.0027 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(9): Show |
splice_region_variant others(1): Show |
LOW | HG02735.hp2 | a0003 | a0003c0006 | a0003c0006t0008 | a0003c0006t0008g0320 | 1 | 376 | 0.0027 | 16 | c.-68 others(30): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD14_chr17_80165030_80214331 | 80183761 | T | TGCCCACA others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0330 | 1 | 376 | 0.0027 | 16 | c.350 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD18_chr11_105132714_105144769 | 105133383 | A | AAAATAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG01361.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 24 | 432 | 0.0556 | 16 | c.*47 others(27): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4330 | chr11 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207732 | C | CTGTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 NA19068.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0014 | a0001c0003t0006g0012a0001c0003t0014g0135 | 2 | 362 | 0.0055 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 353 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GGTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0170 | 1 | 362 | 0.0028 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0007 | 1 | 362 | 0.0028 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02135.hp2 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0006 | a0001c0003t0003a0001c0003t0006a0001c0003t0016others(2): Show | a0001c0003t0003g0010a0001c0003t0003g0131a0001c0003t0006g0029others(5): Show | 8 | 362 | 0.0221 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar |