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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLUL1_chr18_591988_655182 | 645808 | A | ATATAT | intron_variant | MODIFIER | HG00738.hp2 NA18969.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124a0001c0001t0002g0010a0001c0001t0002g0022 | 3 | 414 | 0.0073 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 645810 | A | AAATAT | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02273.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0080a0001c0001t0001g0250a0001c0001t0001g0253others(6): Show | 9 | 414 | 0.0217 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 645810 | A | ATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01123.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122a0001c0001t0001g0163a0001c0001t0001g0199others(8): Show | 11 | 414 | 0.0266 | 5 | c.139 others(22): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | chr18 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27593372 | A | AGTTAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0085a0001c0001t0001g0197others(35): Show | 66 | 458 | 0.1441 | 5 | c.*48 others(16): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27607339 | A | AAAAAC | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(183): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0010a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0026others(83): Show | 186 | 458 | 0.4061 | 5 | c.247 others(20): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61357489 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02738.hp1 HG03669.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0145a0001c0001t0001g0165a0001c0001t0001g0168others(5): Show | 8 | 184 | 0.0435 | 5 | c.456 others(24): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61410066 | G | GTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0081a0001c0001t0002g0027others(4): Show | 7 | 184 | 0.0380 | 5 | c.630 others(24): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123002586 | T | TAATAA | intron_variant | MODIFIER | HG02109.hp2 HG02602.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0042others(1): Show | a0001c0001t0001g0013a0001c0001t0026g0093a0001c0001t0042g0191others(1): Show | 5 | 336 | 0.0149 | 5 | c.389 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01106.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0074a0001c0001t0003g0114a0001c0001t0006g0193others(15): Show | 18 | 336 | 0.0536 | 5 | c.565 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123061868 | T | TATATA | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01106.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0012others(23): Show | a0001c0001t0007g0009a0001c0001t0007g0249a0001c0001t0007g0250others(49): Show | 58 | 336 | 0.1726 | 5 | c.897 others(22): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99679304 | A | AAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00609.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0119a0001c0001t0001g0124a0001c0001t0001g0125others(37): Show | 40 | 218 | 0.1835 | 5 | c.62+ others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716381 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(84): Show | 87 | 218 | 0.3991 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716395 | C | CTTTCT | intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG01433.hp1 others(15): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0013 | a0001c0001t0001a0002c0002t0001a0010c0013t0001 | a0001c0001t0001g0004a0001c0001t0001g0051a0001c0001t0001g0062others(15): Show | 18 | 218 | 0.0826 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99754087 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG00741.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0133others(6): Show | 9 | 218 | 0.0413 | 5 | c.63- others(22): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99819416 | T | TATATA | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0027 | 2 | 218 | 0.0092 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99833031 | T | TATATA | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01243.hp1 others(7): Show |
a0001a0011 | a0001c0001a0011c0007 | a0001c0001t0001a0011c0007t0001 | a0001c0001t0001g0009a0001c0001t0001g0104a0001c0001t0001g0134others(7): Show | 10 | 218 | 0.0459 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99843604 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0083a0001c0001t0001g0087others(2): Show | 5 | 218 | 0.0229 | 5 | c.250 others(24): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99862907 | A | AGACTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0011 | a0001c0001a0001c0005a0011c0007 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(108): Show | 111 | 218 | 0.5092 | 5 | c.439 others(18): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CMAS_chr12_22041218_22070668 | 22053877 | T | TCAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0001t0001g0207others(2): Show | 13 | 450 | 0.0289 | 5 | c.261 others(22): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMBL_chr5_10272595_10312902 | 10283092 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(54): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0002t0013a0001c0002t0014others(2): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0018others(35): Show | 57 | 350 | 0.1629 | 5 | c.467 others(20): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10301606 | G | GTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01257.hp2 HG01358.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0101others(35): Show | 39 | 350 | 0.1114 | 5 | c.-20 others(22): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 1/5 | chr5 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10308196 | G | GTTTAT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0027a0001c0001t0030others(2): Show | a0001c0001t0008g0248a0001c0001t0008g0251a0001c0001t0008g0252others(4): Show | 7 | 350 | 0.0200 | 5 | c.-59 others(14): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 295 | chr5 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10308390 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01358.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0001g0049others(8): Show | 11 | 350 | 0.0314 | 5 | c.-78 others(14): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 489 | chr5 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28274212 | G | GTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01169.hp1 HG01928.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0017 | a0001c0001t0004g0285a0001c0001t0004g0289a0001c0001t0004g0290others(9): Show | 12 | 338 | 0.0355 | 5 | c.109 others(24): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80965200 | A | AAATAT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG03942.hp1 NA18954.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0007a0002c0002t0035others(1): Show | a0002c0002t0004g0010a0002c0002t0004g0149a0002c0002t0007g0117others(2): Show | 6 | 408 | 0.0147 | 5 | c.*10 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1247 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965243 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG03579.hp2 NA19012.hp2 NA19078.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0001c0001t0141a0002c0002t0100 | a0001c0001t0045g0262a0001c0001t0141g0284a0002c0002t0100g0303 | 3 | 408 | 0.0074 | 5 | c.*10 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1204 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80965246 | T | TATATA | downstream_gene_variant | MODIFIER | HG02071.hp2 NA18960.hp2 NA19004.hp1 |
a0002 | a0002c0002 | a0002c0002t0034a0002c0002t0061a0002c0002t0078 | a0002c0002t0034g0154a0002c0002t0061g0088a0002c0002t0078g0133 | 3 | 408 | 0.0074 | 5 | c.*10 others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1201 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TATATA | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0127a0001c0001t0132others(1): Show | a0001c0001t0043g0251a0001c0001t0043g0259a0001c0001t0127g0176others(2): Show | 5 | 408 | 0.0123 | 5 | c.*45 others(16): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80982514 | G | GAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01346.hp1 HG02055.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0011others(2): Show | a0002c0002t0002g0024a0002c0002t0002g0089a0002c0002t0005g0106others(5): Show | 9 | 408 | 0.0221 | 5 | c.82- others(18): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80985901 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(162): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(62): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0017others(110): Show | 165 | 408 | 0.4044 | 5 | c.82- others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80992705 | C | CTTTTT | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03195.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0021a0002c0002t0111a0002c0002t0112others(1): Show | a0002c0002t0021g0011a0002c0002t0111g0287a0002c0002t0112g0286others(1): Show | 6 | 408 | 0.0147 | 5 | c.81+ others(20): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMC4_chrX_155056622_155076136 | 155061439 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG02129.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0012 | 10 | 292 | 0.0343 | 5 | c.*40 others(14): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 182 | chrX | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81463045 | C | CCCATG | intron_variant | MODIFIER | HG01168.hp2 HG02723.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0202a0001c0001t0001g0205a0001c0001t0003g0002others(5): Show | 8 | 268 | 0.0299 | 5 | c.300 others(24): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81537724 | G | GAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(95): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0013others(95): Show | 98 | 268 | 0.3657 | 5 | c.301 others(24): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81568039 | G | GTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0033others(63): Show | 66 | 268 | 0.2463 | 5 | c.301 others(24): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81598968 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0187others(7): Show | 10 | 268 | 0.0373 | 5 | c.301 others(22): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81714289 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01168.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0039a0001c0001t0003g0002a0001c0001t0003g0015others(6): Show | 9 | 268 | 0.0336 | 5 | c.*44 others(16): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 2528 | chr16 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172760 | A | AGGGAG | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0062a0001c0001t0001g0173a0001c0001t0010g0288 | 3 | 322 | 0.0093 | 5 | c.*34 others(16): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2555 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172866 | A | AGGGAG | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02109.hp1 HG02258.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0004a0003c0005t0001others(1): Show | a0001c0001t0002g0283a0001c0001t0004g0008a0001c0001t0004g0314others(3): Show | 6 | 322 | 0.0186 | 5 | c.*33 others(16): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2449 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206203161 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02258.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0003others(4): Show | a0001c0001t0002g0279a0002c0003t0001g0005a0002c0003t0001g0012others(6): Show | 9 | 322 | 0.0280 | 5 | c.-29 others(24): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206206917 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0003c0005t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0009others(3): Show | 6 | 322 | 0.0186 | 5 | c.-29 others(22): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47340035 | T | TCCCTC | intron_variant | MODIFIER | HG01069.hp2 HG01934.hp1 HG02148.hp1 |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0004c0005t0002 | a0002c0002t0002g0146a0004c0005t0002g0143a0004c0005t0002g0189 | 3 | 364 | 0.0082 | 5 | c.171 others(22): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47358104 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01074.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0006a0001c0001t0003g0008others(61): Show | 72 | 364 | 0.1978 | 5 | c.172 others(24): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47365633 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0317a0001c0001t0001g0318others(9): Show | 13 | 364 | 0.0357 | 5 | c.172 others(22): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99856098 | G | GCTGCT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00741.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0017 | a0001c0001t0001g0132a0002c0002t0003g0001a0002c0002t0003g0130others(9): Show | 13 | 232 | 0.0560 | 5 | c.64+ others(22): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99877555 | C | CTATTT | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018 | a0001c0001t0009g0009a0001c0001t0009g0010a0001c0001t0018g0002 | 3 | 232 | 0.0129 | 5 | c.64+ others(22): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99931366 | C | CTTAAG | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018 | a0001c0001t0009g0009a0001c0001t0009g0010a0001c0001t0018g0002 | 3 | 232 | 0.0129 | 5 | c.64+ others(24): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100054490 | T | TTGTTA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0161a0001c0001t0001g0165others(36): Show | 39 | 232 | 0.1681 | 5 | c.65- others(22): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM2_chr16_66574463_66593275 | 66592372 | A | AGGGAG | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02615.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 410 | 0.0073 | 5 | c.*42 others(16): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 4098 | chr16 | TogoVar | ||||||
CMTM3_chr16_66599704_66618887 | 66600136 | G | GGTTTT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG03927.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0028a0001c0001t0003g0002 | 8 | 426 | 0.0188 | 5 | c.-46 others(16): Show |
CMTM3 | ENSG00000140931.20 | transcript | ENST00000567572.6 | protein_coding | 4567 | chr16 | TogoVar |