view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMTA1_chr1_6780454_7774706 | 7335124 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02257.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0001t0025a0001c0002t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0025g0052 others(2): Show |
5 | 21 | 0.2381 | 22 | c.438 others(41): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7391328 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 4 | 0.2500 | 22 | c.439 others(41): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7398193 | C | CTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0041 | 1 | 22 | 0.0455 | 22 | c.439 others(41): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0168 | 1 | 177 | 0.0056 | 22 | c.758 others(37): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 106 | 0.0094 | 22 | c.721 others(37): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01074.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0009 | a0001c0001t0004g0003 a0001c0001t0004g0040 a0001c0001t0004g0146 others(10): Show |
24 | 43 | 0.5581 | 22 | c.294 others(37): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 148 | 0.0068 | 22 | c.-2+ others(39): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406412 | T | TTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02717.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0002t0001g0002 others(4): Show |
7 | 181 | 0.0387 | 22 | c.-2+ others(39): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02896.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0053 a0001c0001t0002g0105 a0001c0002t0001g0078 |
3 | 43 | 0.0698 | 22 | c.223 others(37): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03195.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0099 a0001c0001t0002g0162 others(1): Show |
4 | 20 | 0.2000 | 22 | c.301 others(39): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44176193 | A | AGGAGGAG others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(24): Show |
63 | 458 | 0.1376 | 22 | c.915 others(35): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30796202 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18971.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0202 a0001c0002t0002g0201 |
2 | 382 | 0.0052 | 22 | c.-32 others(39): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31179060 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0257 | 1 | 83 | 0.0120 | 22 | c.171 others(39): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0012 | a0002c0012t0026 | a0002c0012t0026g0130 | 1 | 155 | 0.0065 | 22 | c.128 others(39): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 259 | 0.0039 | 22 | c.310 others(39): 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(15): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0170 a0001c0001t0003g0102 |
2 | 88 | 0.0227 | 22 | c.-36 others(37): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230754342 | A | ATATATTA others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01891.hp2 others(18): Show |
a0002a0005a0006others(1): Show | a0002c0013a0005c0008a0005c0035others(2): Show | a0002c0013t0001a0005c0008t0001a0005c0035t0001others(2): Show | a0002c0013t0001g0093 a0005c0008t0001g0104 a0005c0008t0001g0105 others(17): Show |
21 | 392 | 0.0536 | 22 | c.214 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919168 | A | ATTATATA others(15): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0271 | 1 | 371 | 0.0027 | 22 | c.137 others(39): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 204 | 0.0049 | 22 | c.137 others(39): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | ATTATATA others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0272 | 1 | 204 | 0.0049 | 22 | c.137 others(39): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0272 |
3 | 6 | 0.5000 | 22 | c.40- others(37): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0328 | 1 | 222 | 0.0045 | 22 | c.426 others(37): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCTCTCAC others(15): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 19 | 0.1053 | 22 | c.*29 others(33): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0136 others(1): Show |
4 | 198 | 0.0202 | 22 | c.330 others(39): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 97 | 0.0103 | 22 | c.314 others(39): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(15): Show |
splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0003 | a0003c0010 | a0003c0010t0011 | a0003c0010t0011g0266 | 1 | 135 | 0.0074 | 22 | c.-68 others(36): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202980616 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0146 | 1 | 14 | 0.0714 | 22 | c.155 others(39): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03704.hp2 NA18999.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0002a0001c0002t0002a0004c0008t0002 | a0001c0001t0002g0159 a0001c0002t0002g0142 a0001c0002t0002g0161 others(1): Show |
4 | 79 | 0.0506 | 22 | c.*31 others(33): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03942.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0002a0001c0008t0001 | a0001c0006t0002g0030 a0001c0008t0001g0013 |
2 | 25 | 0.0800 | 22 | c.371 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0094 | 1 | 24 | 0.0417 | 22 | c.371 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25441337 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0013 | a0002c0013t0013 | a0002c0013t0013g0186 | 1 | 24 | 0.0417 | 22 | c.371 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25442468 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0013 | a0002c0013t0010 | a0002c0013t0010g0051 | 1 | 121 | 0.0083 | 22 | c.371 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25450984 | C | CGCTCCCC others(15): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 38 | 0.0263 | 22 | c.614 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25450984 | C | CTCTCCCC others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0071 others(32): Show |
35 | 72 | 0.4861 | 22 | c.614 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | chr6 | TogoVar | |||||||
CARMIL1_chr6_25274374_25625530 | 25459242 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0008 | 1 | 180 | 0.0056 | 22 | c.615 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459266 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0127 | 1 | 164 | 0.0061 | 22 | c.615 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25459268 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0011a0001c0006t0002others(3): Show | a0001c0001t0001g0016 a0001c0002t0011g0044 a0001c0006t0002g0100 others(4): Show |
7 | 159 | 0.0440 | 22 | c.615 others(39): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25596155 | G | GGGTAAAT others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0042 others(41): Show |
44 | 184 | 0.2391 | 22 | c.311 others(41): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CARNS1_chr11_67410678_67430604 | 67424861 | C | CCACACAC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 NA18998.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0031a0001c0004t0034 | a0001c0001t0031g0002 a0001c0004t0034g0021 |
2 | 144 | 0.0139 | 22 | c.*27 others(31): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 10/10 | 292 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CARS2_chr13_110636417_110711116 | 110637585 | C | CAGACAGG others(15): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0029 | 1 | 370 | 0.0027 | 22 | c.*39 others(33): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 3831 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110649931 | C | CTGTTTTT others(15): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0047 | 1 | 17 | 0.0588 | 22 | c.105 others(41): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
CARS2_chr13_110636417_110711116 | 110679577 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 370 | 0.0027 | 22 | c.656 others(39): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41598134 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016 | a0001c0001t0006g0036 a0001c0001t0016g0016 |
2 | 145 | 0.0138 | 22 | c.115 others(41): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 12/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41829696 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 28 | 0.0357 | 22 | c.172 others(41): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | |||||||
CASK_chrX_41509934_41928554 | 41869812 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0036 a0001c0001t0021g0164 |
2 | 63 | 0.0317 | 22 | c.60- others(39): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | |||||||
CASP3_chr4_184622696_184654447 | 184631542 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 a0001c0001t0002g0221 |
2 | 40 | 0.0500 | 22 | c.483 others(37): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
CASP7_chr10_113674912_113735905 | 113687794 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0331 a0001c0001t0004g0330 |
2 | 273 | 0.0073 | 22 | c.-1+ others(37): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761528 | A | AGAAGAAG others(15): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01515.hp1 HG01934.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0006a0002c0004t0002others(1): Show | a0002c0003t0001g0287 a0002c0003t0006g0345 a0002c0004t0002g0279 others(2): Show |
5 | 243 | 0.0206 | 22 | c.234 others(39): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASR_chr3_122178668_122296629 | 122195007 | G | GCTCCTCC others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0180 a0001c0001t0003g0008 a0001c0001t0003g0009 others(48): Show |
53 | 178 | 0.2978 | 22 | c.-24 others(43): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CASS4_chr20_56407260_56465382 | 56443469 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0245 | 1 | 210 | 0.0048 | 22 | c.460 others(39): Show |
CASS4 | ENSG00000087589.17 | transcript | ENST00000679887.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |