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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLK4_chr5_178597664_178632050 | 178627223 | C | CCCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01099.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(9): Show | 18 | 384 | 0.0469 | 17 | c.-27 others(26): Show |
CLK4 | ENSG00000113240.14 | transcript | ENST00000316308.9 | protein_coding | 174 | chr5 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95319909 | G | GGCGGGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(72): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0003c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0107a0001c0001t0001g0151a0001c0001t0001g0158others(71): Show | 75 | 276 | 0.2717 | 17 | c.-11 others(26): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 2 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123107534 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016 | a0001c0001t0012g0184a0001c0001t0016g0051 | 2 | 254 | 0.0079 | 17 | c.29- others(32): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150532 | G | GAAGGCAG others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 254 | 0.0039 | 17 | c.28+ others(34): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150542 | A | AGGGAGGG others(10): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 254 | 0.0039 | 17 | c.28+ others(34): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68234678 | C | CTTTTCCT others(10): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 324 | 0.0031 | 17 | c.-51 others(28): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 4951 | chr15 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1761611 | C | CACCGTGC others(10): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0168 | 1 | 413 | 0.0024 | 17 | c.-23 others(28): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 2177 | chr8 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763392 | G | GCGCCGCG others(10): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0133 | 1 | 413 | 0.0024 | 17 | c.-61 others(26): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 396 | chr8 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763392 | G | GCGCTGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0002 | 1 | 413 | 0.0024 | 17 | c.-61 others(26): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 396 | chr8 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763399 | G | GCCCCGCC others(10): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0170 | 1 | 413 | 0.0024 | 17 | c.-61 others(26): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 389 | chr8 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10535266 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0285 | 1 | 320 | 0.0031 | 17 | c.603 others(34): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10578579 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02258.hp1 others(3): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0002a0001c0001t0014a0001c0001t0034others(2): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0014g0180others(3): Show | 6 | 320 | 0.0188 | 17 | c.112 others(34): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 4/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10610033 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 320 | 0.0031 | 17 | c.12- others(34): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10655375 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0039 | a0001c0001t0006g0086a0001c0001t0039g0262 | 2 | 320 | 0.0063 | 17 | c.11+ others(34): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10689745 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01517.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0003g0191a0001c0001t0003g0212a0001c0001t0003g0237others(22): Show | 25 | 320 | 0.0781 | 17 | c.-51 others(28): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 4978 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55445582 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18955.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0076 | a0001c0001t0001g0001a0001c0001t0001g0082a0001c0001t0001g0086others(2): Show | 6 | 338 | 0.0178 | 17 | c.154 others(34): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55503978 | T | TAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0110 | 1 | 338 | 0.0030 | 17 | c.-13 others(36): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55530774 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0049 | a0001c0001t0042g0071a0001c0001t0049g0072 | 2 | 338 | 0.0059 | 17 | c.-29 others(38): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72286223 | G | GTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02056.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0087a0001c0001t0100others(1): Show | a0001c0001t0041g0154a0001c0001t0087g0193a0001c0001t0100g0115others(1): Show | 4 | 206 | 0.0194 | 17 | c.*71 others(28): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 7143 | chr11 | TogoVar | |||||
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | 460 | 0.0065 | 17 | c.-15 others(28): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 460 | 0.0022 | 17 | c.-15 others(28): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65168383 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 1 | 190 | 0.0053 | 17 | c.359 others(34): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 3/13 | chr15 | TogoVar | ||||||
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 408 | 0.0025 | 17 | c.253 others(34): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02135.hp1 HG02135.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0011others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0076a0001c0001t0001g0093others(4): Show | 7 | 110 | 0.0636 | 17 | c.109 others(36): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140076625 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0053 | 1 | 110 | 0.0091 | 17 | c.110 others(36): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140127031 | A | ATCATGTG others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 110 | 0.0091 | 17 | c.110 others(36): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140127063 | T | TTATATGT others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02723.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0012a0002c0002t0001 | a0001c0003t0012g0052a0001c0003t0012g0053a0002c0002t0001g0022 | 3 | 110 | 0.0273 | 17 | c.110 others(36): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140438431 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0006a0002c0005t0004 | a0001c0001t0006g0025a0002c0005t0004g0038a0002c0005t0004g0077 | 3 | 110 | 0.0273 | 17 | c.788 others(36): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLUAP1_chr16_3496004_3544048 | 3529547 | T | TATATTAT others(10): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 382 | 0.0026 | 17 | c.929 others(34): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUAP1_chr16_3496004_3544048 | 3529633 | T | TTATTATA others(10): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0299 | 1 | 382 | 0.0026 | 17 | c.929 others(32): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLUH_chr17_2684387_2716764 | 2693141 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03195.hp1 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0322a0001c0010t0003g0323 | 2 | 420 | 0.0048 | 17 | c.323 others(34): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 19/25 | chr17 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 628915 | G | GAGCCACC others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0400 | 1 | 414 | 0.0024 | 17 | c.856 others(34): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0160a0001c0001t0002g0107others(3): Show | 6 | 184 | 0.0326 | 17 | c.456 others(36): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0161a0001c0001t0001g0167a0001c0001t0001g0170others(20): Show | 23 | 218 | 0.1055 | 17 | c.-48 others(28): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99624103 | C | CCTGTTTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0164others(46): Show | 49 | 218 | 0.2248 | 17 | c.62+ others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02896.hp1 NA18979.hp2 NA19064.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0074a0001c0001t0001g0198a0003c0003t0001g0186 | 3 | 218 | 0.0138 | 17 | c.63- others(34): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99833030 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 218 | 0.0046 | 17 | c.250 others(36): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 218 | 0.0046 | 17 | c.250 others(36): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
CMAS_chr12_22041218_22070668 | 22060333 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 450 | 0.0022 | 17 | c.694 others(32): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28274206 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0235 | 2 | 338 | 0.0059 | 17 | c.109 others(36): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28278044 | C | CTGATTGT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 338 | 0.0030 | 17 | c.109 others(36): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80965200 | A | ATATGCAT others(10): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0263 | 1 | 408 | 0.0025 | 17 | c.*10 others(30): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1247 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965245 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01928.hp2 HG01975.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0001c0001t0049others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0001g0197others(7): Show | 10 | 408 | 0.0245 | 17 | c.*10 others(30): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1202 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATATA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02080.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024a0001c0001t0156 | a0001c0001t0008g0007a0001c0001t0008g0035a0001c0001t0024g0265others(3): Show | 10 | 408 | 0.0245 | 17 | c.*45 others(28): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81520569 | G | GAGAGAGA others(10): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 268 | 0.0037 | 17 | c.300 others(36): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81598968 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 268 | 0.0037 | 17 | c.301 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667766 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0198 | 1 | 268 | 0.0037 | 17 | c.826 others(34): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206171661 | G | GGCTCCTC others(10): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 322 | 0.0031 | 17 | c.*45 others(28): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 3654 | chr2 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47380250 | G | GTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 364 | 0.0028 | 17 | c.*35 others(28): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1412 | chr1 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99948762 | G | GAAGGAAA others(10): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0002 | 1 | 232 | 0.0043 | 17 | c.64+ others(36): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |