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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101489601 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01928.hp1 HG01928.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0002g0125a0001c0001t0002g0132a0001c0001t0002g0133others(6): Show | 9 | 174 | 0.0517 | 8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01884.hp1 others(4): Show |
a0002a0003 | a0002c0003a0002c0004a0003c0010 | a0002c0003t0001a0002c0003t0025a0002c0004t0001others(2): Show | a0002c0003t0001g0091a0002c0003t0001g0110a0002c0003t0025g0126others(4): Show | 7 | 174 | 0.0402 | 8 | c.386 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101556893 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0114a0001c0001t0002g0080a0001c0002t0003g0047others(50): Show | 53 | 174 | 0.3046 | 8 | c.116 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101556993 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0012a0004c0011t0003g0038 | 2 | 174 | 0.0115 | 8 | c.116 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114157106 | A | ACACACGC others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01978.hp1 HG03491.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0036a0001c0003t0002a0002c0001t0001others(4): Show | a0001c0002t0036g0196a0001c0003t0002g0080a0002c0001t0001g0082others(4): Show | 7 | 308 | 0.0227 | 8 | c.62+ others(23): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 1/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114157106 | A | ACACGCGC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG02055.hp2 others(9): Show |
a0001a0002a0006others(3): Show | a0001c0022a0001c0139a0001c0143others(9): Show | a0001c0022t0001a0001c0139t0002a0001c0143t0003others(9): Show | a0001c0022t0001g0090a0001c0139t0002g0089a0001c0143t0003g0087others(9): Show | 12 | 308 | 0.0390 | 8 | c.62+ others(23): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 1/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114165649 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03669.hp2 NA18906.hp2 others(6): Show |
a0001a0006a0054 | a0001c0002a0001c0109a0001c0132others(6): Show | a0001c0002t0036a0001c0109t0001a0001c0132t0002others(6): Show | a0001c0002t0036g0196a0001c0109t0001g0150a0001c0132t0002g0141others(6): Show | 9 | 308 | 0.0292 | 8 | c.134 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114165827 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01192.hp2 HG01261.hp1 others(17): Show |
a0001a0008a0010others(8): Show | a0001c0045a0008c0029a0010c0025others(13): Show | a0001c0045t0003a0008c0029t0017a0010c0025t0003others(17): Show | a0001c0045t0003g0059a0008c0029t0017g0148a0010c0025t0003g0184others(17): Show | 20 | 308 | 0.0649 | 8 | c.134 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166368 | A | AATCCATC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00733.hp2 others(16): Show |
a0001a0002a0003others(11): Show | a0001c0010a0001c0134a0002c0001others(14): Show | a0001c0010t0002a0001c0134t0003a0002c0001t0003others(15): Show | a0001c0010t0002g0132a0001c0134t0003g0069a0002c0001t0003g0102others(16): Show | 19 | 308 | 0.0617 | 8 | c.134 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166444 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(128): Show |
a0001a0002a0003others(23): Show | a0001c0002a0001c0003a0001c0010others(70): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0012others(97): Show | a0001c0002t0001g0121a0001c0002t0007g0133a0001c0002t0012g0119others(128): Show | 131 | 308 | 0.4253 | 8 | c.134 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253295 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02818.hp1 HG03688.hp1 others(4): Show |
a0002a0004a0005others(1): Show | a0002c0008a0002c0104a0004c0172others(4): Show | a0002c0008t0002a0002c0104t0015a0004c0172t0004others(4): Show | a0002c0008t0002g0109a0002c0104t0015g0206a0004c0172t0004g0236others(4): Show | 7 | 308 | 0.0227 | 8 | c.314 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7372398 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01256.hp2 others(16): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(4): Show | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0138others(16): Show | 19 | 196 | 0.0969 | 8 | c.290 others(25): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 32/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7372442 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02572.hp1 others(3): Show |
a0002a0004a0007others(1): Show | a0002c0004a0004c0039a0007c0008others(1): Show | a0002c0004t0003a0004c0039t0003a0007c0008t0003others(1): Show | a0002c0004t0003g0027a0002c0004t0003g0186a0004c0039t0003g0071others(3): Show | 6 | 196 | 0.0306 | 8 | c.290 others(25): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 32/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383666 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02559.hp1 others(5): Show |
a0002a0012a0018others(3): Show | a0002c0004a0012c0016a0012c0035others(4): Show | a0002c0004t0003a0012c0016t0002a0012c0035t0002others(4): Show | a0002c0004t0003g0030a0012c0016t0002g0016a0012c0016t0002g0123others(5): Show | 8 | 196 | 0.0408 | 8 | c.213 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383682 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0048a0001c0001t0001g0050others(16): Show | 19 | 196 | 0.0969 | 8 | c.213 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7400975 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00733.hp2 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(7): Show | a0001c0001t0001g0125a0001c0001t0001g0168a0001c0001t0002g0051others(11): Show | 14 | 196 | 0.0714 | 8 | c.213 others(29): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7429426 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02486.hp1 HG02886.hp1 others(5): Show |
a0003a0005a0018others(1): Show | a0003c0047a0005c0010a0005c0044others(2): Show | a0003c0047t0003a0005c0010t0001a0005c0010t0002others(3): Show | a0003c0047t0003g0045a0005c0010t0001g0043a0005c0010t0001g0092others(5): Show | 8 | 196 | 0.0408 | 8 | c.199 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 25/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7497082 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02056.hp1 HG03654.hp1 others(3): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0014 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0134a0001c0001t0002g0135a0003c0003t0001g0076others(3): Show | 6 | 196 | 0.0306 | 8 | c.102 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7497094 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00642.hp1 others(21): Show |
a0001a0016a0030others(1): Show | a0001c0001a0016c0018a0030c0038others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0085a0001c0001t0001g0093others(21): Show | 24 | 196 | 0.1225 | 8 | c.102 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7497102 | G | GAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0073a0003c0003t0001g0074 | 2 | 196 | 0.0102 | 8 | c.102 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7522806 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG01255.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0049a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0002c0049t0003others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0047others(13): Show | 16 | 196 | 0.0816 | 8 | c.703 others(23): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47999634 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01361.hp2 HG02572.hp1 others(5): Show |
a0002a0003 | a0002c0001a0003c0005a0003c0012others(1): Show | a0002c0001t0002a0003c0005t0002a0003c0005t0009others(2): Show | a0002c0001t0002g0063a0003c0005t0002g0026a0003c0005t0002g0060others(4): Show | 8 | 414 | 0.0193 | 8 | c.292 others(23): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 2/53 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008136 | G | GAAGAAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG03688.hp2 NA18522.hp2 others(1): Show |
a0003 | a0003c0005a0003c0009a0003c0012 | a0003c0005t0002a0003c0009t0001a0003c0009t0002others(1): Show | a0003c0005t0002g0007a0003c0009t0001g0036a0003c0009t0002g0101others(1): Show | 4 | 414 | 0.0097 | 8 | c.-38 others(19): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3661 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01255.hp2 others(41): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0018others(40): Show | 44 | 376 | 0.1170 | 8 | c.-15 others(19): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188996303 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(59): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0080a0001c0001t0001g0292a0002c0002t0001g0009others(52): Show | 62 | 376 | 0.1649 | 8 | c.166 others(23): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 23/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 189007096 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01928.hp1 HG02027.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0130a0001c0001t0001g0205others(15): Show | 21 | 376 | 0.0559 | 8 | c.325 others(25): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01081.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0156a0001c0003t0001g0014a0001c0003t0001g0154others(26): Show | 29 | 344 | 0.0843 | 8 | c.*49 others(19): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110169497 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0007a0002c0015others(14): Show | a0001c0006t0003a0001c0007t0005a0002c0015t0004others(18): Show | a0001c0006t0003g0076a0001c0007t0005g0152a0002c0015t0004g0268others(27): Show | 30 | 344 | 0.0872 | 8 | c.387 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 43/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110170133 | G | GGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02257.hp1 HG02895.hp2 others(2): Show |
a0002a0004 | a0002c0004a0002c0018a0004c0035 | a0002c0004t0001a0002c0004t0007a0002c0018t0001others(1): Show | a0002c0004t0001g0190a0002c0004t0007g0174a0002c0018t0001g0176others(2): Show | 5 | 344 | 0.0145 | 8 | c.374 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110198078 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18957.hp1 NA18957.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0024a0002c0106others(3): Show | a0001c0003t0001a0002c0024t0002a0002c0024t0010others(4): Show | a0001c0003t0001g0092a0002c0024t0002g0276a0002c0024t0010g0336others(4): Show | 7 | 344 | 0.0204 | 8 | c.128 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 21/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219784 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18971.hp2 NA18972.hp2 |
a0001a0004 | a0001c0001a0001c0019a0004c0005 | a0001c0001t0001a0001c0019t0001a0004c0005t0001 | a0001c0001t0001g0039a0001c0019t0001g0066a0004c0005t0001g0045 | 3 | 344 | 0.0087 | 8 | c.145 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110219967 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03139.hp2 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0033a0001c0051a0002c0004 | a0001c0033t0001a0001c0051t0001a0002c0004t0001 | a0001c0033t0001g0098a0001c0033t0001g0099a0001c0051t0001g0114others(1): Show | 4 | 344 | 0.0116 | 8 | c.145 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110247790 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01192.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0055a0001c0058others(15): Show | a0001c0001t0001a0001c0055t0001a0001c0058t0001others(15): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0055t0001g0064others(17): Show | 20 | 344 | 0.0581 | 8 | c.85- others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253279 | A | ATATGTAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0010a0001c0016others(13): Show | a0001c0007t0001a0001c0010t0001a0001c0016t0003others(13): Show | a0001c0007t0001g0046a0001c0010t0001g0150a0001c0016t0003g0109others(16): Show | 19 | 344 | 0.0552 | 8 | c.85- others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253279 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02698.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0007a0001c0013others(8): Show | a0001c0003t0001a0001c0007t0001a0001c0013t0001others(8): Show | a0001c0003t0001g0014a0001c0003t0001g0095a0001c0007t0001g0070others(9): Show | 12 | 344 | 0.0349 | 8 | c.85- others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253304 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG02523.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0058others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0058t0001others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0155a0001c0003t0001g0014others(6): Show | 9 | 344 | 0.0262 | 8 | c.85- others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110261035 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02055.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0016a0001c0020a0002c0004others(10): Show | a0001c0016t0003a0001c0020t0001a0002c0004t0001others(10): Show | a0001c0016t0003g0109a0001c0016t0003g0110a0001c0020t0001g0090others(13): Show | 16 | 344 | 0.0465 | 8 | c.85- others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110452120 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0015a0001c0022a0002c0013others(18): Show | a0001c0015t0003a0001c0022t0019a0002c0013t0002others(25): Show | a0001c0015t0003g0093a0001c0022t0019g0130a0002c0013t0002g0265others(33): Show | 36 | 372 | 0.0968 | 8 | c.133 others(27): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110509245 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01099.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0015others(14): Show | a0001c0001t0004a0001c0001t0006a0001c0003t0002others(17): Show | a0001c0001t0004g0280a0001c0001t0004g0350a0001c0001t0006g0074others(20): Show | 23 | 372 | 0.0618 | 8 | c.488 others(27): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 47/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193737 | G | GAGGGAAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01106.hp2 HG02559.hp1 others(9): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0004a0002c0007others(7): Show | a0001c0001t0002a0002c0004t0003a0002c0004t0008others(8): Show | a0001c0001t0002g0266a0002c0004t0003g0334a0002c0004t0008g0240others(9): Show | 12 | 344 | 0.0349 | 8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193747 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG01943.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0003 | a0001c0001t0001a0001c0001t0016a0002c0004t0003others(2): Show | a0001c0001t0001g0098a0001c0001t0001g0138a0001c0001t0001g0161others(6): Show | 9 | 344 | 0.0262 | 8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227195665 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02015.hp1 others(16): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0044a0004c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0203a0001c0001t0001g0242a0001c0001t0002g0307others(16): Show | 19 | 344 | 0.0552 | 8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227195667 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01099.hp1 others(2): Show |
a0004a0014a0029others(1): Show | a0004c0003a0014c0023a0029c0035others(1): Show | a0004c0003t0004a0014c0023t0002a0029c0035t0004others(1): Show | a0004c0003t0004g0254a0004c0003t0004g0255a0014c0023t0002g0080others(2): Show | 5 | 344 | 0.0145 | 8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202898 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01071.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0042a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(13): Show | a0001c0001t0001g0117a0001c0001t0001g0131a0001c0001t0001g0184others(34): Show | 37 | 344 | 0.1076 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202900 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp2 HG02273.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0002g0140others(3): Show | 6 | 344 | 0.0174 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202926 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02083.hp2 others(11): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0002a0003c0011others(6): Show | a0001c0001t0002a0003c0002t0003a0003c0011t0001others(6): Show | a0001c0001t0002g0082a0001c0001t0002g0180a0001c0001t0002g0185others(11): Show | 14 | 344 | 0.0407 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202936 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG01074.hp1 others(76): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0047a0002c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(33): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0024others(76): Show | 79 | 344 | 0.2297 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202954 | C | CATATGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG04115.hp1 HG04204.hp2 others(5): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0004a0004c0003others(4): Show | a0001c0001t0002a0001c0001t0007a0002c0004t0003others(5): Show | a0001c0001t0002g0191a0001c0001t0007g0278a0002c0004t0003g0259others(5): Show | 8 | 344 | 0.0233 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203018 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02135.hp1 HG03239.hp1 others(4): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0002a0006c0031others(2): Show | a0001c0001t0001a0003c0002t0003a0006c0031t0006others(2): Show | a0001c0001t0001g0117a0001c0001t0001g0242a0003c0002t0003g0220others(4): Show | 7 | 344 | 0.0204 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203046 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02132.hp2 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0002a0003c0011others(4): Show | a0001c0001t0002a0003c0002t0003a0003c0011t0001others(4): Show | a0001c0001t0002g0082a0001c0001t0002g0180a0001c0001t0002g0185others(8): Show | 11 | 344 | 0.0320 | 8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |