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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST8_chr19_33616953_33778506 | 33618635 | T | TTCTTCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0001 | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0221others(15): Show | 18 | 254 | 0.0709 | 6 | c.-38 others(17): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3317 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33633774 | C | CGTGTGT | intron_variant | MODIFIER | HG02698.hp2 HG02809.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0191a0001c0001t0001g0204others(5): Show | 8 | 254 | 0.0315 | 6 | c.-16 others(27): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33657156 | C | CACACAA | intron_variant | MODIFIER | NA18973.hp2 NA18974.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0089a0001c0001t0001g0093 | 3 | 254 | 0.0118 | 6 | c.-16 others(27): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33694093 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01074.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0069a0001c0001t0001g0089others(48): Show | 51 | 254 | 0.2008 | 6 | c.130 others(23): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33724480 | C | CTGCCGG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0133a0001c0001t0001g0186a0001c0001t0001g0187others(8): Show | 11 | 254 | 0.0433 | 6 | c.130 others(25): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33765513 | T | TTGTGTG | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0030others(20): Show | 23 | 254 | 0.0906 | 6 | c.131 others(23): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33765561 | G | GTGTGTC | intron_variant | MODIFIER | HG01167.hp1 HG03098.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116a0001c0001t0001g0172a0001c0001t0002g0056 | 3 | 254 | 0.0118 | 6 | c.131 others(23): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26912372 | A | AACACAC | 3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01943.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0045a0001c0001t0050others(5): Show | a0001c0001t0011g0046a0001c0001t0011g0097a0001c0001t0011g0152others(9): Show | 12 | 262 | 0.0458 | 6 | c.*38 others(17): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 6/6 | 3886 | chr18 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 26969370 | C | CTGTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0222a0001c0001t0024g0123a0001c0001t0024g0229 | 3 | 262 | 0.0115 | 6 | c.203 others(25): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26969879 | T | TGTTATA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00673.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0120a0001c0001t0001g0135a0001c0001t0001g0240others(78): Show | 81 | 262 | 0.3092 | 6 | c.203 others(25): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26975649 | G | GTATATA | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0002g0196a0001c0001t0004g0109a0001c0001t0004g0200others(13): Show | 16 | 262 | 0.0611 | 6 | c.203 others(25): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 26975725 | G | GTATATA | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0056a0001c0001t0004g0095a0001c0001t0005g0062others(11): Show | 14 | 262 | 0.0534 | 6 | c.203 others(25): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27015323 | T | TTGTGTG | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0128a0001c0001t0002g0130a0001c0001t0002g0150others(17): Show | 20 | 262 | 0.0763 | 6 | c.202 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27047388 | T | TTGTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01981.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0059a0001c0001t0003g0115a0001c0001t0004g0109others(7): Show | 10 | 262 | 0.0382 | 6 | c.160 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053130 | G | GGAAGAA | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00735.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0049a0001c0001t0001g0078a0001c0001t0001g0086others(22): Show | 25 | 262 | 0.0954 | 6 | c.122 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053136 | A | AGAAGAG | intron_variant | MODIFIER | HG01123.hp1 HG01167.hp2 HG01169.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0079a0001c0001t0003g0080a0001c0001t0003g0106others(14): Show | 17 | 262 | 0.0649 | 6 | c.122 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053218 | G | GGAAGAA | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG01123.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0120a0001c0001t0002g0131a0001c0001t0003g0056others(16): Show | 19 | 262 | 0.0725 | 6 | c.122 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27053288 | G | GAAGGAC | intron_variant | MODIFIER | HG01168.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0222a0001c0001t0022g0179 | 2 | 262 | 0.0076 | 6 | c.122 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27055937 | C | CGTGTGT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01074.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(10): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0045others(20): Show | 23 | 262 | 0.0878 | 6 | c.122 others(23): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27112578 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0014others(2): Show | a0001c0001t0006g0102a0001c0001t0006g0103a0001c0001t0009g0116others(4): Show | 7 | 262 | 0.0267 | 6 | c.121 others(25): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101186147 | C | CAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01167.hp1 others(13): Show |
a0003 | a0003c0006a0003c0011a0003c0017 | a0003c0006t0006a0003c0011t0016a0003c0011t0065others(1): Show | a0003c0006t0006g0377a0003c0006t0006g0378a0003c0006t0006g0379others(13): Show | 16 | 422 | 0.0379 | 6 | c.817 others(23): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101204435 | A | AAATAAT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0008a0001c0003t0004a0001c0008t0010others(11): Show | a0001c0001t0008g0003a0001c0003t0004g0130a0001c0008t0010g0048others(37): Show | 44 | 422 | 0.1043 | 6 | c.817 others(25): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101227939 | A | AGAATGT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(158): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0008a0001c0001t0017a0001c0001t0018others(54): Show | a0001c0001t0008g0003a0001c0001t0008g0078a0001c0001t0008g0222others(153): Show | 161 | 422 | 0.3815 | 6 | c.816 others(23): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101251479 | G | GGCCGCC | 5_prime_UTR_variant | MODIFIER | HG02004.hp1 HG02572.hp1 HG03130.hp2 |
a0001a0006 | a0001c0001a0001c0005a0006c0022 | a0001c0001t0025a0001c0005t0025a0006c0022t0057 | a0001c0001t0025g0050a0001c0005t0025g0049a0006c0022t0057g0323 | 3 | 422 | 0.0071 | 6 | c.-29 others(13): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | 24 | chr15 | TogoVar | |||||
CHSY1_chr15_101170727_101257048 | 101255803 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0010others(58): Show | 64 | 422 | 0.1517 | 6 | c.-43 others(17): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 3756 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129901662 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02818.hp1 HG02886.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0007others(1): Show | a0001c0001t0017a0002c0003t0005a0002c0007t0012others(1): Show | a0001c0001t0017g0123a0002c0003t0005g0127a0002c0007t0012g0129others(1): Show | 4 | 276 | 0.0145 | 6 | c.-31 others(17): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2802 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129901665 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0014others(15): Show | a0001c0001t0006g0264a0001c0001t0006g0268a0001c0002t0001g0003others(52): Show | 55 | 276 | 0.1993 | 6 | c.-31 others(17): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2799 | chr5 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 129932103 | C | CATATAT | intron_variant | MODIFIER | HG01168.hp2 NA18946.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0152a0001c0001t0002g0191a0001c0001t0002g0209others(1): Show | 4 | 276 | 0.0145 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129932140 | A | ATATATG | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG02976.hp2 others(2): Show |
a0002a0003 | a0002c0003a0002c0007a0003c0004 | a0002c0003t0001a0002c0007t0012a0003c0004t0004others(1): Show | a0002c0003t0001g0229a0002c0007t0012g0228a0003c0004t0004g0220others(2): Show | 5 | 276 | 0.0181 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129932140 | A | ATGTATG | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0017a0002c0003t0005a0002c0007t0009 | a0001c0001t0017g0123a0002c0003t0005g0124a0002c0003t0005g0126others(1): Show | 4 | 276 | 0.0145 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129976913 | C | CATATAT | intron_variant | MODIFIER | HG01928.hp2 HG04204.hp1 NA18946.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0005a0003c0006others(1): Show | a0001c0002t0001a0001c0002t0014a0002c0005t0001others(2): Show | a0001c0002t0001g0016a0001c0002t0001g0111a0001c0002t0001g0273others(5): Show | 8 | 276 | 0.0290 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 129990377 | A | AGTGTGT | intron_variant | MODIFIER | HG00408.hp1 HG02257.hp1 HG02258.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0017a0001c0002t0001others(7): Show | a0001c0001t0002g0197a0001c0001t0017g0123a0001c0002t0001g0063others(11): Show | 14 | 276 | 0.0507 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130071537 | T | TTGTGTG | intron_variant | MODIFIER | HG01884.hp2 HG03540.hp2 NA18939.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0005t0001others(1): Show | a0001c0001t0002g0195a0001c0001t0002g0203a0002c0003t0002g0133others(2): Show | 5 | 276 | 0.0181 | 6 | c.108 others(29): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130080037 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0001others(9): Show | a0001c0001t0002g0132a0001c0001t0002g0147a0001c0001t0002g0148others(68): Show | 71 | 276 | 0.2573 | 6 | c.108 others(29): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130091111 | A | AACACAC | intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG02559.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0002others(3): Show | a0001c0001t0002g0175a0001c0001t0002g0221a0001c0002t0001g0050others(7): Show | 10 | 276 | 0.0362 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130091138 | A | ACACACG | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0010a0003c0004t0007 | a0002c0003t0010g0249a0002c0003t0010g0250a0002c0003t0010g0251others(1): Show | 4 | 276 | 0.0145 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130091146 | G | GCACGCA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0017a0002c0003t0005 | a0001c0001t0017g0123a0002c0003t0005g0124a0002c0003t0005g0126others(2): Show | 5 | 276 | 0.0181 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130091146 | G | GCGCACA | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01123.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0009 | a0001c0001t0006a0002c0003t0006a0002c0003t0020others(1): Show | a0001c0001t0006g0264a0001c0001t0006g0267a0001c0001t0006g0268others(6): Show | 9 | 276 | 0.0326 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130128229 | G | GGTGTGT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02486.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0007others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(5): Show | a0001c0001t0002g0145a0001c0001t0002g0152a0001c0001t0002g0195others(15): Show | 18 | 276 | 0.0652 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143804 | A | ATATATG | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0002t0001a0001c0008t0001 | a0001c0001t0002g0131a0001c0001t0002g0146a0001c0001t0002g0168others(6): Show | 9 | 276 | 0.0326 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143808 | G | GTATATA | intron_variant | MODIFIER | HG01123.hp1 HG01516.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0011 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0002a0002c0003t0010others(2): Show | a0001c0002t0001g0115a0002c0003t0002g0171a0002c0003t0002g0177others(10): Show | 13 | 276 | 0.0471 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143810 | G | GTATATA | intron_variant | MODIFIER | HG02723.hp1 NA18945.hp2 NA19064.hp2 |
a0001a0002a0005 | a0001c0002a0002c0007a0005c0010 | a0001c0002t0001a0002c0007t0002a0005c0010t0003 | a0001c0002t0001g0074a0002c0007t0002g0120a0005c0010t0003g0028 | 3 | 276 | 0.0109 | 6 | c.108 others(27): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178227 | T | TTATATA | intron_variant | MODIFIER | HG04204.hp2 NA18949.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151a0001c0001t0002g0166a0001c0001t0002g0211 | 3 | 276 | 0.0109 | 6 | c.108 others(25): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130190628 | T | TAACAAC | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02723.hp2 HG03041.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0135a0004c0009t0004g0136a0004c0009t0004g0139others(2): Show | 5 | 276 | 0.0181 | 6 | c.*48 others(17): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 3995 | chr5 | TogoVar | ||||||
CHUK_chr10_100183300_100234596 | 100210091 | A | ATTTATT | intron_variant | MODIFIER | HG01358.hp1 HG01891.hp2 HG02145.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0030a0001c0001t0001g0081others(2): Show | 13 | 402 | 0.0323 | 6 | c.934 others(21): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
CHUK_chr10_100183300_100234596 | 100224086 | A | ACTCTCT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0059a0001c0001t0001g0060others(19): Show | 29 | 402 | 0.0721 | 6 | c.201 others(23): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 2/20 | chr10 | TogoVar | ||||||
CHUK_chr10_100183300_100234596 | 100228991 | G | GCACACA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0230a0001c0001t0001g0231others(9): Show | 19 | 402 | 0.0473 | 6 | c.105 others(21): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
CHUK_chr10_100183300_100234596 | 100228993 | G | GCACACA | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01346.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0217a0001c0001t0001g0218a0001c0001t0001g0219others(7): Show | 12 | 402 | 0.0299 | 6 | c.105 others(21): Show |
CHUK | ENSG00000213341.11 | transcript | ENST00000370397.8 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
CHURC1_chr14_64909455_64940368 | 64925696 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01433.hp2 HG01516.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0200a0001c0001t0003g0076a0001c0001t0003g0078others(15): Show | 25 | 392 | 0.0638 | 6 | c.176 others(21): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIAO3_chr16_724765_745997 | 726992 | C | CGGGCGG | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03579.hp2 NA20300.hp1 |
a0003 | a0003c0004 | a0003c0004t0003a0003c0004t0012 | a0003c0004t0003g0035a0003c0004t0012g0082 | 3 | 398 | 0.0075 | 6 | c.*34 others(17): Show |
CIAO3 | ENSG00000103245.14 | transcript | ENST00000251588.7 | protein_coding | 2772 | chr16 | TogoVar |