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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHIC2_chr4_54004789_54069605 | 54032260 | T | TCCCTCC | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0022a0001c0001t0006g0023a0001c0001t0006g0024others(1): Show | 4 | 244 | 0.0164 | 6 | c.330 others(25): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54058551 | C | CACACAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00741.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0046others(13): Show | 18 | 244 | 0.0738 | 6 | c.119 others(23): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 910937 | T | TCGGGGC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02615.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0019others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0055others(8): Show | 15 | 386 | 0.0389 | 6 | c.-21 others(15): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 128 | chr11 | TogoVar | ||||||
CHIT1_chr1_203211079_203234673 | 203214835 | A | ACAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(332): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0022a0001c0025others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(99): Show | 335 | 484 | 0.6922 | 6 | c.*20 others(17): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 1243 | chr1 | TogoVar | ||||||
CHIT1_chr1_203211079_203234673 | 203218213 | T | TGGTCAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(288): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0022a0001c0025others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(81): Show | 291 | 484 | 0.6012 | 6 | c.103 others(23): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 9/10 | chr1 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68050524 | A | AGGCCTG | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0253a0001c0001t0001g0260 | 3 | 276 | 0.0109 | 6 | c.*34 others(17): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 2334 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68052217 | T | TGGGCCA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0162a0001c0001t0001g0163a0001c0001t0002g0002others(90): Show | 93 | 276 | 0.3370 | 6 | c.*17 others(17): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 641 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68113081 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01081.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0161a0001c0001t0001g0163a0001c0001t0001g0199others(39): Show | 42 | 276 | 0.1522 | 6 | c.350 others(23): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CHKA_chr11_68047859_68126388 | 68125912 | G | GCACACA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0025 | a0001c0001t0001g0164a0001c0001t0001g0201a0001c0001t0001g0202others(6): Show | 9 | 276 | 0.0326 | 6 | c.-47 others(17): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 4525 | chr11 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 214956 | G | GCACACA | intron_variant | MODIFIER | HG01361.hp2 HG02523.hp1 NA18747.hp1 others(8): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0029 | a0001c0001t0001a0001c0001t0039a0001c0001t0040others(3): Show | a0001c0001t0001g0161a0001c0001t0001g0165a0001c0001t0001g0207others(8): Show | 11 | 290 | 0.0379 | 6 | c.-17 others(27): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 226374 | T | TTATATA | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(4): Show | a0001c0001t0001g0165a0001c0001t0001g0176a0001c0001t0001g0278others(9): Show | 12 | 290 | 0.0414 | 6 | c.-17 others(27): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 234993 | C | CTATTAT | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01516.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0282a0001c0001t0002g0054a0001c0001t0003g0276others(4): Show | 7 | 290 | 0.0241 | 6 | c.-17 others(25): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 252361 | G | GATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0028others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0024a0001c0001t0001g0128a0001c0001t0001g0133others(61): Show | 64 | 290 | 0.2207 | 6 | c.-95 others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 314329 | G | GTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01256.hp1 others(13): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0004a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0001g0144others(13): Show | 16 | 290 | 0.0552 | 6 | c.-94 others(23): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 322645 | A | AATATAT | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0028a0003c0003t0007 | a0001c0001t0028g0232a0003c0003t0007g0239a0003c0003t0007g0247 | 3 | 290 | 0.0103 | 6 | c.91+ others(21): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 344466 | A | AACACAC | intron_variant | MODIFIER | HG01433.hp1 HG02129.hp2 HG02145.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0023others(13): Show | 16 | 290 | 0.0552 | 6 | c.728 others(20): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHML_chr1_241623851_241645369 | 241641448 | T | TTTACCC | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0017others(6): Show | a0001c0001t0004g0004a0001c0001t0004g0050a0001c0001t0009g0008others(8): Show | 28 | 452 | 0.0620 | 6 | c.-18 others(17): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1080 | chr1 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89653020 | C | CTTTTCT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0001g0258a0001c0001t0002g0019others(65): Show | 71 | 392 | 0.1811 | 6 | c.27+ others(19): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CHMP1B_chr18_11846413_11859444 | 11846464 | T | TACACAC | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000 | 5 | 438 | 0.0114 | 6 | c.-50 others(17): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 4948 | chr18 | TogoVar | ||||||
CHMP1B_chr18_11846413_11859444 | 11846464 | T | TATACAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0000a0001c0001t0009g0000 | 7 | 438 | 0.0160 | 6 | c.-50 others(17): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 4948 | chr18 | TogoVar | ||||||
CHMP2B_chr3_87222309_87260556 | 87226589 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02897.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0024a0002c0004t0004g0119a0002c0004t0004g0120 | 4 | 414 | 0.0097 | 6 | c.-93 others(15): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 719 | chr3 | TogoVar | ||||||
CHMP2B_chr3_87222309_87260556 | 87257942 | C | CAATAAT | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00642.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0012others(18): Show | 29 | 414 | 0.0701 | 6 | c.*41 others(17): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2387 | chr3 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86554814 | C | CGTGTGT | intron_variant | MODIFIER | HG04184.hp2 NA18967.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0249a0001c0001t0009g0179a0001c0001t0009g0248 | 3 | 336 | 0.0089 | 6 | c.45+ others(21): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHMP3_chr2_86498430_86568443 | 86554816 | C | CGTGTGT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007a0001c0002t0011 | a0001c0001t0001g0269a0001c0002t0007g0004a0001c0002t0007g0299others(7): Show | 12 | 336 | 0.0357 | 6 | c.45+ others(21): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81739418 | T | TGGGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00733.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0038others(29): Show | 42 | 408 | 0.1029 | 6 | c.190 others(23): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHMP6_chr17_80986841_81005133 | 80988884 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01167.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0079a0001c0001t0002g0001a0001c0001t0002g0011others(12): Show | 36 | 438 | 0.0822 | 6 | c.-30 others(17): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2956 | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80991416 | T | TAAAAAA | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01517.hp1 HG02132.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0003g0004others(6): Show | 14 | 438 | 0.0320 | 6 | c.-50 others(15): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 81005029 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0024others(7): Show | 18 | 438 | 0.0411 | 6 | c.*58 others(17): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 4897 | chr17 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23240415 | T | TTTGTTG | upstream_gene_variant | MODIFIER | HG03516.hp2 NA18522.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0172a0001c0001t0022g0328a0001c0001t0022g0329 | 3 | 438 | 0.0069 | 6 | c.-38 others(17): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3221 | chr8 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(74): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0009 | a0001c0001t0001a0001c0001t0009a0001c0001t0029others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(51): Show | 77 | 438 | 0.1758 | 6 | c.*35 others(17): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAA | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0077 | 1 | 245 | 0.0041 | 6 | c.*83 others(17): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85868019 | C | CTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG03130.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0004g0218a0001c0001t0004g0233 | 3 | 245 | 0.0122 | 6 | c.177 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 14/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911127 | A | ATGTGTG | intron_variant | MODIFIER | HG01358.hp1 HG04199.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071a0001c0002t0002g0072 | 2 | 245 | 0.0082 | 6 | c.124 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911131 | A | ATGTGTG | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 245 | 0.0041 | 6 | c.124 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911224 | T | TATATGA | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 245 | 0.0041 | 6 | c.124 others(21): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAAG | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 245 | 0.0041 | 6 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAGAAAG | intron_variant | MODIFIER | HG01169.hp2 HG02280.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0095a0001c0001t0001g0216a0001c0001t0021g0244 | 3 | 245 | 0.0122 | 6 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATAT | intron_variant | MODIFIER | NA18979.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0170 | 2 | 245 | 0.0082 | 6 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973300 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01168.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013 | a0001c0001t0001g0095a0001c0001t0001g0103a0001c0001t0001g0106others(3): Show | 6 | 245 | 0.0245 | 6 | c.314 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973325 | A | AAAAAAG | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 245 | 0.0041 | 6 | c.314 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85976875 | A | AACACAC | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 245 | 0.0041 | 6 | c.314 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86021126 | G | GTATATA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(20): Show | 23 | 245 | 0.0939 | 6 | c.116 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | C | CTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG03130.hp1 NA18944.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(3): Show | 6 | 245 | 0.0245 | 6 | c.116 others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86041726 | G | GTATATA | intron_variant | MODIFIER | HG02080.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | 245 | 0.0082 | 6 | c.49+ others(21): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 1/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174800741 | A | AATGGCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(151): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0044others(151): Show | 154 | 276 | 0.5580 | 6 | c.120 others(23): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174807446 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG03017.hp2 HG03486.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0113a0001c0001t0001g0114others(10): Show | 13 | 276 | 0.0471 | 6 | c.110 others(25): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174858979 | T | TACACAC | intron_variant | MODIFIER | HG01496.hp2 HG03017.hp1 HG04184.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0044a0001c0001t0001g0164a0001c0001t0001g0165others(2): Show | 5 | 276 | 0.0181 | 6 | c.550 others(25): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174974894 | T | TACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0202a0001c0001t0001g0211a0001c0001t0001g0230others(9): Show | 12 | 276 | 0.0435 | 6 | c.20- others(23): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174974898 | T | TACACAC | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0067others(6): Show | 9 | 276 | 0.0326 | 6 | c.20- others(23): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195595 | C | CGAGAGA | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG02165.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0103a0001c0001t0003g0106a0001c0001t0003g0107others(11): Show | 14 | 232 | 0.0603 | 6 | c.49+ others(19): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |