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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP6_chr17_80986841_81005133 | 81005029 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG02109.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0030a0001c0001t0001g0033others(2): Show | 7 | 438 | 0.0160 | 8 | c.*58 others(19): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 4897 | chr17 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0006a0001c0001t0003g0004a0001c0001t0003g0016others(32): Show | 44 | 438 | 0.1005 | 8 | c.*35 others(19): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85895183 | T | TGGTGTAC others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0002g0189a0001c0001t0007g0075a0001c0001t0007g0076others(9): Show | 12 | 245 | 0.0490 | 8 | c.141 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911129 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055a0001c0002t0002g0056a0001c0002t0002g0064others(1): Show | 4 | 245 | 0.0163 | 8 | c.124 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911216 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0210 | 1 | 245 | 0.0041 | 8 | c.124 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02451.hp1 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0011 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0020others(4): Show | 7 | 245 | 0.0286 | 8 | c.116 others(27): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02055.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0154a0001c0001t0001g0243a0001c0001t0007g0080 | 3 | 245 | 0.0122 | 8 | c.116 others(27): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973300 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02922.hp1 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0009a0005c0009t0012 | a0001c0001t0009g0196a0005c0009t0012g0225 | 2 | 245 | 0.0082 | 8 | c.314 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86021126 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00673.hp1 others(25): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0087others(25): Show | 28 | 245 | 0.1143 | 8 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18906.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0213a0001c0001t0001g0214 | 3 | 245 | 0.0122 | 8 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174807446 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02040.hp1 HG02280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0092a0001c0001t0001g0106others(13): Show | 16 | 276 | 0.0580 | 8 | c.110 others(27): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174847773 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0053others(5): Show | 8 | 276 | 0.0290 | 8 | c.550 others(23): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174858979 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03579.hp2 HG06807.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0094others(3): Show | 6 | 276 | 0.0217 | 8 | c.550 others(27): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174974894 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18959.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0009a0001c0001t0003g0010others(2): Show | 5 | 276 | 0.0181 | 8 | c.20- others(25): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174974898 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01175.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0001g0052others(29): Show | 32 | 276 | 0.1159 | 8 | c.20- others(25): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195595 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01517.hp2 HG01928.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0003g0087a0001c0001t0003g0093a0001c0001t0003g0096others(11): Show | 14 | 232 | 0.0603 | 8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29195627 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002 | a0001c0001t0006g0001a0001c0002t0002g0002 | 2 | 232 | 0.0086 | 8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0002 | a0001c0001t0003g0143a0002c0003t0002g0142 | 2 | 232 | 0.0086 | 8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGTGTG others(1): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0004 | a0001c0001t0012g0170a0001c0002t0004g0169 | 2 | 232 | 0.0086 | 8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29211450 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02109.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0005a0001c0006t0002 | a0001c0001t0005g0023a0001c0006t0002g0197 | 2 | 232 | 0.0086 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29220278 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01168.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0140a0001c0001t0001g0141others(15): Show | 18 | 232 | 0.0776 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29220280 | A | AAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp1 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0015a0001c0001t0001g0064a0001c0001t0001g0076others(93): Show | 96 | 232 | 0.4138 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29229978 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01981.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0004 | a0001c0001t0006g0020a0001c0001t0006g0036a0002c0003t0004g0089 | 3 | 232 | 0.0129 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29268283 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01884.hp1 HG01891.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(10): Show | a0001c0001t0001g0029a0001c0001t0008g0178a0001c0001t0011g0046others(12): Show | 15 | 232 | 0.0647 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29273349 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0064a0001c0001t0015g0117 | 2 | 232 | 0.0086 | 8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29280383 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0005 | a0001c0001t0003g0143a0002c0004t0005g0211 | 2 | 232 | 0.0086 | 8 | c.50- others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29295314 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(4): Show | a0001c0001t0001g0015a0001c0001t0005g0193a0001c0001t0005g0221others(6): Show | 9 | 232 | 0.0388 | 8 | c.50- others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29354940 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0130others(50): Show | 53 | 232 | 0.2285 | 8 | c.88+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29374801 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00738.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0029others(32): Show | 35 | 232 | 0.1509 | 8 | c.144 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29405164 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01167.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0166others(21): Show | 24 | 232 | 0.1035 | 8 | c.576 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29433868 | G | GGGGAGGA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0026others(58): Show | 61 | 232 | 0.2629 | 8 | c.576 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29458377 | G | GCACACAT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02280.hp2 HG02809.hp2 |
a0001a0002 | a0001c0002a0001c0005a0002c0004 | a0001c0002t0003a0001c0005t0001a0002c0004t0005 | a0001c0002t0003g0068a0001c0005t0001g0051a0002c0004t0005g0202 | 3 | 232 | 0.0129 | 8 | c.577 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29461816 | T | TTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01952.hp1 HG02148.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0008a0001c0002t0002a0002c0003t0004others(1): Show | a0001c0001t0008g0176a0001c0001t0008g0228a0001c0002t0002g0100others(3): Show | 6 | 232 | 0.0259 | 8 | c.577 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29466228 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0009a0001c0001t0001g0082a0001c0001t0001g0120others(54): Show | 57 | 232 | 0.2457 | 8 | c.577 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29472272 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 HG04228.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0028others(1): Show | a0001c0001t0001g0183a0001c0001t0010g0125a0001c0001t0028g0050others(1): Show | 4 | 232 | 0.0172 | 8 | c.577 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29473470 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG02135.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0003g0097a0001c0001t0006g0039a0001c0002t0002g0030others(4): Show | 7 | 232 | 0.0302 | 8 | c.577 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29488526 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0163a0001c0002t0002g0208a0001c0002t0010g0061 | 3 | 232 | 0.0129 | 8 | c.655 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHP1_chr15_41226268_41286887 | 41249429 | C | CAGATGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0025a0001c0001t0001g0285a0001c0001t0001g0286others(5): Show | 8 | 298 | 0.0269 | 8 | c.140 others(25): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHP2_chr16_23750026_23763935 | 23750869 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 392 | 0.0077 | 8 | c.-41 others(19): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4156 | chr16 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759381 | C | CTTCTTTC others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(1): Show | 35 | 392 | 0.0893 | 8 | c.*17 others(19): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | ||||||
CHPF_chr2_219533954_219548809 | 219534764 | G | GCCATCCA others(1): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG03516.hp2 HG03579.hp2 |
a0001a0002 | a0001c0006a0002c0005 | a0001c0006t0001a0002c0005t0001 | a0001c0006t0001g0041a0002c0005t0001g0007 | 3 | 396 | 0.0076 | 8 | c.*46 others(19): Show |
CHPF | ENSG00000123989.15 | transcript | ENST00000243776.11 | protein_coding | 4189 | chr2 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101715497 | A | ACATGTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0109a0001c0001t0001g0111others(3): Show | 9 | 402 | 0.0224 | 8 | c.563 others(23): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110669080 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 NA18948.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0025a0001c0001t0001g0059a0001c0001t0016g0092others(1): Show | 4 | 172 | 0.0233 | 8 | c.*71 others(19): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4775 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACATAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01167.hp1 others(13): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0004c0005 | a0001c0002t0004a0001c0002t0021a0003c0004t0004others(1): Show | a0001c0002t0004g0012a0001c0002t0004g0032a0001c0002t0004g0038others(13): Show | 16 | 172 | 0.0930 | 8 | c.*17 others(19): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110675676 | C | CGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0028 | 1 | 172 | 0.0058 | 8 | c.*54 others(17): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 554 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110689398 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0005 | a0004c0005t0050 | a0004c0005t0050g0072 | 1 | 172 | 0.0058 | 8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689765 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0022a0001c0002t0006g0021 | 2 | 172 | 0.0116 | 8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689796 | C | CATCTATA others(1): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 172 | 0.0058 | 8 | c.779 others(24): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689835 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 172 | 0.0058 | 8 | c.779 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689853 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 172 | 0.0058 | 8 | c.779 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar |