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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMAS_chr12_22041218_22070668 | 22057226 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03490.hp1 HG03669.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020a0001c0001t0001g0165a0001c0001t0002g0033others(4): Show | 10 | 450 | 0.0222 | 8 | c.560 others(25): Show |
CMAS | ENSG00000111726.13 | transcript | ENST00000229329.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CMBL_chr5_10272595_10312902 | 10285688 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(101): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0065a0001c0001t0004g0079a0001c0001t0007g0109others(77): Show | 104 | 350 | 0.2971 | 8 | c.466 others(23): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
CMC1_chr3_28236619_28330142 | 28255722 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0132a0001c0001t0001g0145a0001c0001t0001g0172others(45): Show | 53 | 338 | 0.1568 | 8 | c.20- others(23): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28258060 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0145a0001c0001t0003g0309a0001c0001t0004g0012others(29): Show | 33 | 338 | 0.0976 | 8 | c.20- others(23): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28300669 | C | CTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03130.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0276 | 3 | 338 | 0.0089 | 8 | c.110 others(27): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC1_chr3_28236619_28330142 | 28309821 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0078a0001c0001t0001g0132others(20): Show | 24 | 338 | 0.0710 | 8 | c.110 others(25): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80965247 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 NA18939.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0048a0002c0002t0004a0002c0002t0007others(3): Show | a0001c0001t0048g0257a0002c0002t0004g0120a0002c0002t0004g0123others(6): Show | 10 | 408 | 0.0245 | 8 | c.*10 others(21): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1200 | chr16 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80971562 | T | TTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp2 HG02129.hp1 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0154a0002c0002t0094a0002c0002t0101 | a0001c0001t0154g0279a0002c0002t0094g0161a0002c0002t0101g0304 | 3 | 408 | 0.0074 | 8 | c.*45 others(19): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4530 | chr16 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80971584 | A | ATATATGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(62): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0011others(12): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0022others(43): Show | 65 | 408 | 0.1593 | 8 | c.*45 others(19): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4508 | chr16 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80971584 | A | ATATGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG02602.hp1 HG03927.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0034a0002c0002t0072a0002c0002t0169 | a0002c0002t0034g0115a0002c0002t0034g0154a0002c0002t0072g0135others(1): Show | 4 | 408 | 0.0098 | 8 | c.*45 others(19): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4508 | chr16 | TogoVar | |||||
CMC2_chr16_80961448_81011885 | 80978072 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0033a0001c0001t0125a0002c0002t0003others(37): Show | a0001c0001t0033g0172a0001c0001t0033g0173a0001c0001t0125g0067others(49): Show | 65 | 408 | 0.1593 | 8 | c.154 others(25): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81500272 | G | GTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02132.hp2 HG02523.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0029a0001c0001t0001g0040others(6): Show | 9 | 268 | 0.0336 | 8 | c.300 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81568024 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02559.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0175a0001c0001t0001g0262 | 3 | 268 | 0.0112 | 8 | c.301 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81568039 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018a0001c0001t0001g0042a0001c0001t0001g0046others(24): Show | 27 | 268 | 0.1008 | 8 | c.301 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81569945 | T | TTTCATTC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02071.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0121a0001c0001t0001g0199others(5): Show | 8 | 268 | 0.0299 | 8 | c.301 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81577788 | A | ATCACCTT others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18522.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0125a0001c0001t0001g0205a0001c0001t0004g0067 | 3 | 268 | 0.0112 | 8 | c.301 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81590823 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0087others(8): Show | 11 | 268 | 0.0410 | 8 | c.301 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81640770 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01255.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0141others(8): Show | 11 | 268 | 0.0410 | 8 | c.478 others(27): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667795 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01891.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0020 | a0001c0001t0001g0035a0001c0001t0004g0111a0001c0001t0020g0001 | 3 | 268 | 0.0112 | 8 | c.826 others(25): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667797 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02965.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(1): Show | a0001c0001t0001g0022a0001c0001t0012g0114a0001c0001t0018g0080others(1): Show | 4 | 268 | 0.0149 | 8 | c.826 others(25): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG02148.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0253a0001c0001t0002g0219a0001c0001t0003g0015others(2): Show | 5 | 268 | 0.0187 | 8 | c.826 others(25): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81667799 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02717.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0026 | a0001c0001t0001g0186a0001c0001t0004g0005a0001c0001t0026g0113 | 3 | 268 | 0.0112 | 8 | c.826 others(25): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMIP_chr16_81439808_81716762 | 81691349 | A | AACCTAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137a0001c0001t0002g0245 | 2 | 268 | 0.0075 | 8 | c.138 others(25): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CMKLR1_chr12_108283046_108344311 | 108311283 | A | AATGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp1 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0062others(87): Show | 95 | 400 | 0.2375 | 8 | c.-73 others(27): Show |
CMKLR1 | ENSG00000174600.14 | transcript | ENST00000550402.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206196391 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00673.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0259a0001c0001t0001g0266a0001c0001t0001g0267others(30): Show | 34 | 322 | 0.1056 | 8 | c.-29 others(27): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206203161 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01099.hp1 others(17): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0010 | a0001c0001t0004a0002c0003t0003a0008c0010t0003 | a0001c0001t0004g0314a0002c0003t0003g0001a0002c0003t0003g0232others(14): Show | 20 | 322 | 0.0621 | 8 | c.-29 others(27): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01167.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0129a0001c0001t0001g0131a0001c0001t0001g0183others(19): Show | 22 | 322 | 0.0683 | 8 | c.-29 others(25): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMPK1_chr1_47328790_47383839 | 47336138 | G | GAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(76): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0244a0001c0001t0002g0257a0001c0001t0004g0002others(67): Show | 79 | 364 | 0.2170 | 8 | c.171 others(25): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47370959 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(124): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0001a0001c0001t0003g0006a0001c0001t0003g0008others(108): Show | 127 | 364 | 0.3489 | 8 | c.319 others(25): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CMPK1_chr1_47328790_47383839 | 47380250 | G | GTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02056.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018a0002c0002t0001g0201a0002c0002t0001g0202others(6): Show | 9 | 364 | 0.0247 | 8 | c.*35 others(19): Show |
CMPK1 | ENSG00000162368.15 | transcript | ENST00000371873.10 | protein_coding | 1412 | chr1 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 99872269 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01891.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0161a0001c0001t0001g0172others(17): Show | 20 | 232 | 0.0862 | 8 | c.64+ others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99876383 | T | TGGTGGGC others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01934.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0069a0001c0001t0002g0041a0001c0001t0002g0042others(28): Show | 31 | 232 | 0.1336 | 8 | c.64+ others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99916437 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 HG04204.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0002c0002t0019 | a0001c0001t0001g0220a0001c0001t0016g0195a0002c0002t0019g0012 | 3 | 232 | 0.0129 | 8 | c.64+ others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99929513 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG04184.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0002g0097 | 3 | 232 | 0.0129 | 8 | c.64+ others(27): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 99983456 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152a0001c0001t0002g0154 | 2 | 232 | 0.0086 | 8 | c.65- others(27): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021960 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009a0001c0001t0009g0010a0001c0001t0009g0040 | 3 | 232 | 0.0129 | 8 | c.65- others(27): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021960 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02523.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060a0001c0001t0002g0079a0001c0001t0002g0080 | 3 | 232 | 0.0129 | 8 | c.65- others(27): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100021960 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG02080.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069a0001c0001t0002g0151a0001c0001t0002g0152others(2): Show | 5 | 232 | 0.0216 | 8 | c.65- others(27): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100067166 | C | CGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01928.hp1 HG01952.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0034others(19): Show | 22 | 232 | 0.0948 | 8 | c.65- others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100074675 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0021a0001c0001t0001g0158others(21): Show | 24 | 232 | 0.1035 | 8 | c.65- others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100115575 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0214 | 2 | 232 | 0.0086 | 8 | c.65- others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100117844 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044a0001c0001t0002g0045 | 2 | 232 | 0.0086 | 8 | c.65- others(25): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM2_chr16_66574463_66593275 | 66589895 | A | AATAGAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01993.hp1 others(15): Show |
a0002a0005 | a0002c0002a0002c0003a0005c0008 | a0002c0002t0001a0002c0003t0001a0005c0008t0001 | a0002c0002t0001g0004a0002c0002t0001g0009a0002c0002t0001g0012others(6): Show | 18 | 410 | 0.0439 | 8 | c.*17 others(19): Show |
CMTM2 | ENSG00000140932.10 | transcript | ENST00000268595.3 | protein_coding | 1621 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66649459 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00735.hp1 others(68): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0080others(68): Show | 71 | 320 | 0.2219 | 8 | c.187 others(27): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66700907 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0016a0001c0002t0002a0001c0002t0015others(2): Show | a0001c0001t0016g0019a0001c0002t0002g0024a0001c0002t0002g0026others(21): Show | 24 | 320 | 0.0750 | 8 | c.-43 others(19): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 4165 | chr16 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32430681 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 NA18962.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0046a0001c0001t0003g0003a0001c0001t0003g0025others(2): Show | 6 | 368 | 0.0163 | 8 | c.160 others(27): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32430714 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01071.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0013a0001c0001t0002g0117a0001c0001t0002g0118others(17): Show | 20 | 368 | 0.0544 | 8 | c.160 others(27): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM7_chr3_32386853_32460528 | 32440070 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0010a0001c0002t0004g0130a0001c0002t0004g0297 | 4 | 368 | 0.0109 | 8 | c.160 others(25): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32273129 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01257.hp2 HG01258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0029others(11): Show | 14 | 344 | 0.0407 | 8 | c.147 others(27): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32295455 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01361.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0066a0001c0001t0001g0082others(7): Show | 10 | 344 | 0.0291 | 8 | c.147 others(27): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |