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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL28A1_chr7_7352875_7540873 | 7374039 | ATAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01346.hp1 HG03516.hp2 others(1): Show |
a0002a0005a0013others(1): Show | a0002c0002a0005c0044a0013c0011others(1): Show | a0002c0002t0002a0005c0044t0003a0013c0011t0002others(1): Show | a0002c0002t0002g0141a0005c0044t0003g0039a0013c0011t0002g0036others(1): Show | 4 | 196 | 0.0204 | -3 | c.236 others(20): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7388616 | CCCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0051others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0042others(90): Show | 93 | 196 | 0.4745 | -3 | c.213 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7391801 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(75): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0051others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0042others(75): Show | 78 | 196 | 0.3980 | -3 | c.213 others(24): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7424089 | AAAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00733.hp2 others(51): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0002a0003c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(24): Show | a0001c0001t0001g0157a0001c0001t0001g0158a0001c0001t0002g0149others(51): Show | 54 | 196 | 0.2755 | -3 | c.199 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 25/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7425096 | CTTA | C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02145.hp2 others(6): Show |
a0002a0028 | a0002c0002a0002c0004a0028c0036 | a0002c0002t0006a0002c0004t0003a0028c0036t0010 | a0002c0002t0006g0002a0002c0004t0003g0026a0002c0004t0003g0027others(6): Show | 9 | 196 | 0.0459 | -3 | c.199 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 25/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7441524 | GAAA | G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01891.hp2 others(19): Show |
a0002a0004a0007others(7): Show | a0002c0002a0004c0006a0004c0039others(10): Show | a0002c0002t0002a0004c0006t0002a0004c0039t0003others(11): Show | a0002c0002t0002g0170a0004c0006t0002g0005a0004c0006t0002g0006others(19): Show | 22 | 196 | 0.1122 | -3 | c.165 others(20): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 20/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7463248 | TAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG02080.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0098a0001c0005t0001g0099a0001c0005t0001g0100 | 3 | 196 | 0.0153 | -3 | c.130 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 15/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7484543 | AAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
a0006 | a0006c0015a0006c0019 | a0006c0015t0002a0006c0019t0002 | a0006c0015t0002g0101a0006c0015t0002g0179a0006c0019t0002g0187others(1): Show | 4 | 196 | 0.0204 | -3 | c.116 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 13/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7492609 | AAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp2 HG02055.hp1 others(11): Show |
a0001a0002a0007others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0006a0002c0004t0003others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0154a0001c0001t0001g0156others(11): Show | 14 | 196 | 0.0714 | -3 | c.102 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7493085 | CAAT | C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02145.hp2 others(7): Show |
a0002a0028a0031 | a0002c0002a0002c0004a0028c0036others(1): Show | a0002c0002t0006a0002c0004t0003a0028c0036t0010others(1): Show | a0002c0002t0006g0002a0002c0004t0003g0026a0002c0004t0003g0027others(7): Show | 10 | 196 | 0.0510 | -3 | c.102 others(22): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7535656 | CTAA | C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02717.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0004c0006t0002 | a0002c0002t0002g0004a0004c0006t0002g0005a0004c0006t0002g0006others(2): Show | 5 | 196 | 0.0255 | -3 | c.-38 others(16): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 1/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971687 | TATA | T | downstream_gene_variant | MODIFIER | HG02735.hp2 HG03579.hp1 HG03927.hp2 |
a0003a0004 | a0003c0009a0004c0007 | a0003c0009t0002a0004c0007t0001 | a0003c0009t0002g0104a0004c0007t0001g0054 | 3 | 414 | 0.0073 | -3 | c.*17 others(14): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1279 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971725 | ATAT | A | downstream_gene_variant | MODIFIER | NA18957.hp1 NA18962.hp1 NA19056.hp1 others(1): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0002a0004c0007t0001 | a0002c0001t0002g0001a0004c0007t0001g0024 | 4 | 414 | 0.0097 | -3 | c.*16 others(14): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1241 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47971787 | ATAT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(106): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(18): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(19): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0020others(64): Show | 109 | 414 | 0.2633 | -3 | c.*16 others(14): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1179 | chr12 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 47978800 | TTCC | T | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01192.hp1 others(30): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0008others(6): Show | a0001c0003t0007a0001c0004t0001a0001c0008t0001others(7): Show | a0001c0003t0007g0021a0001c0004t0001g0051a0001c0004t0001g0226others(22): Show | 33 | 414 | 0.0797 | -3 | c.273 others(18): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 41/53 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189013487 | AAAT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG03239.hp2 HG03491.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0122a0001c0001t0001g0185a0002c0002t0001g0029others(2): Show | 5 | 376 | 0.0133 | -3 | c.*17 others(14): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 742 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110144919 | GAAA | G | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01167.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(5): Show | a0001c0001t0001g0089a0002c0002t0002g0304a0002c0004t0001g0214others(9): Show | 12 | 344 | 0.0349 | -3 | c.*54 others(14): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 4043 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110207901 | CCCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0013a0001c0036others(24): Show | a0001c0006t0001a0001c0013t0001a0001c0036t0003others(32): Show | a0001c0006t0001g0008a0001c0006t0001g0025a0001c0006t0001g0057others(59): Show | 63 | 344 | 0.1831 | -3 | c.694 others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 12/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110220682 | CCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(26): Show | a0001c0001t0001g0011a0001c0001t0001g0039a0001c0001t0001g0040others(44): Show | 47 | 344 | 0.1366 | -3 | c.145 others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110234825 | GATC | G | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0002a0003a0004 | a0002c0083a0002c0088a0002c0108others(2): Show | a0002c0083t0001a0002c0088t0003a0002c0108t0001others(2): Show | a0002c0083t0001g0173a0002c0088t0003g0225a0002c0108t0001g0251others(3): Show | 6 | 344 | 0.0174 | -3 | c.144 others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252604 | GTAT | G | intron_variant | MODIFIER | HG01192.hp1 HG02129.hp2 HG02717.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0075a0002c0002others(6): Show | a0001c0003t0001a0001c0075t0003a0002c0002t0001others(6): Show | a0001c0003t0001g0120a0001c0075t0003g0079a0002c0002t0001g0175others(8): Show | 11 | 344 | 0.0320 | -3 | c.85- others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110252652 | TGTA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(37): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(41): Show | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0039others(60): Show | 63 | 344 | 0.1831 | -3 | c.85- others(18): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253258 | TAGG | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(26): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0072others(44): Show | 48 | 344 | 0.1395 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253286 | TTAC | T | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01109.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0013others(14): Show | a0001c0001t0001a0001c0010t0001a0001c0013t0001others(16): Show | a0001c0001t0001g0133a0001c0010t0001g0052a0001c0013t0001g0030others(21): Show | 24 | 344 | 0.0698 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253361 | TTAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(38): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0072others(65): Show | 69 | 344 | 0.2006 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253386 | TTAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(38): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0072others(63): Show | 67 | 344 | 0.1948 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253436 | TTAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(38): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(41): Show | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0072others(63): Show | 67 | 344 | 0.1948 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110258199 | GAGC | G | intron_variant | MODIFIER | HG01192.hp1 HG03130.hp2 HG03579.hp2 others(1): Show |
a0002 | a0002c0002a0002c0100a0002c0104 | a0002c0002t0001a0002c0100t0001a0002c0104t0001 | a0002c0002t0001g0175a0002c0002t0001g0185a0002c0100t0001g0177others(1): Show | 4 | 344 | 0.0116 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110269012 | CGGA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01069.hp2 others(59): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(35): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(39): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0044others(59): Show | 62 | 344 | 0.1802 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110270356 | AGAG | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01928.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(22): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(24): Show | a0001c0001t0001g0032a0001c0001t0001g0037a0001c0001t0001g0039others(39): Show | 42 | 344 | 0.1221 | -3 | c.85- others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110288262 | CAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG02280.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0010a0002c0004a0002c0011others(6): Show | a0001c0010t0001a0002c0004t0001a0002c0011t0001others(6): Show | a0001c0010t0001g0113a0002c0004t0001g0256a0002c0011t0001g0184others(6): Show | 9 | 344 | 0.0262 | -3 | c.84+ others(20): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110309519 | TACC | T | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG03471.hp1 |
a0001a0002 | a0001c0014a0001c0119a0002c0041 | a0001c0014t0009a0001c0119t0032a0002c0041t0018 | a0001c0014t0009g0004a0001c0119t0032g0005a0002c0041t0018g0003 | 3 | 372 | 0.0081 | -3 | c.99+ others(18): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110355514 | GTGT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0003g0091others(62): Show | 65 | 372 | 0.1747 | -3 | c.100 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355547 | GTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG02080.hp2 HG02976.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0363a0001c0001t0002g0338a0001c0001t0010g0033others(12): Show | 15 | 372 | 0.0403 | -3 | c.100 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355610 | GTGT | G | intron_variant | MODIFIER | HG00423.hp1 HG02723.hp1 NA21309.hp1 |
a0001a0002 | a0001c0015a0002c0013a0002c0097 | a0001c0015t0003a0002c0013t0043a0002c0097t0015 | a0001c0015t0003g0093a0002c0013t0043g0016a0002c0097t0015g0260 | 3 | 372 | 0.0081 | -3 | c.100 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355709 | GAGT | G | intron_variant | MODIFIER | HG00544.hp2 HG02922.hp2 NA18971.hp1 others(1): Show |
a0001a0002 | a0001c0004a0001c0016a0001c0029others(1): Show | a0001c0004t0003a0001c0016t0003a0001c0029t0001others(1): Show | a0001c0004t0003g0140a0001c0016t0003g0094a0001c0029t0001g0161others(1): Show | 4 | 372 | 0.0108 | -3 | c.100 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355741 | GTGT | G | intron_variant | MODIFIER | HG00741.hp1 HG03688.hp1 HG04204.hp1 |
a0001a0003 | a0001c0003a0003c0010 | a0001c0003t0003a0003c0010t0004 | a0001c0003t0003g0132a0001c0003t0003g0133a0003c0010t0004g0351 | 3 | 372 | 0.0081 | -3 | c.100 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110363113 | CACG | C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0001a0003a0011 | a0001c0001a0003c0105a0011c0032 | a0001c0001t0001a0003c0105t0011a0011c0032t0003 | a0001c0001t0001g0001a0003c0105t0011g0168a0011c0032t0003g0123 | 4 | 372 | 0.0108 | -3 | c.180 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110425819 | GAGA | G | intron_variant | MODIFIER | HG01346.hp1 HG02723.hp2 HG02809.hp1 others(3): Show |
a0001a0002a0003 | a0001c0046a0001c0119a0002c0113others(3): Show | a0001c0046t0034a0001c0119t0032a0002c0113t0008others(3): Show | a0001c0046t0034g0007a0001c0119t0032g0005a0002c0113t0008g0040others(3): Show | 6 | 372 | 0.0161 | -3 | c.360 others(18): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110436125 | GTTA | G | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01167.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0189a0001c0001t0001g0190others(30): Show | 34 | 372 | 0.0914 | -3 | c.727 others(18): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110478807 | GTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(111): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0001a0001c0001t0001g0189a0001c0001t0001g0190others(110): Show | 114 | 372 | 0.3065 | -3 | c.258 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110485522 | CAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01256.hp2 HG02602.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0010a0001c0001t0023a0001c0002t0003others(11): Show | a0001c0001t0010g0033a0001c0001t0023g0329a0001c0002t0003g0127others(12): Show | 15 | 372 | 0.0403 | -3 | c.302 others(20): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 33/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110516014 | CAAA | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01069.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0005others(25): Show | a0001c0001t0004g0348a0001c0002t0001g0101a0001c0002t0001g0180others(27): Show | 30 | 372 | 0.0807 | -3 | c.*38 others(14): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 2806 | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227171515 | CGTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0047a0002c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0047t0002others(11): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(21): Show | 24 | 344 | 0.0698 | -3 | c.87+ others(18): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227174498 | GATT | G | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(17): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0047a0002c0007others(7): Show | a0001c0001t0001a0001c0047t0002a0002c0007t0001others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(17): Show | 20 | 344 | 0.0581 | -3 | c.87+ others(18): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193935 | TAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(228): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0042a0001c0047others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(228): Show | 231 | 344 | 0.6715 | -3 | c.87+ others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202745 | AAAT | A | intron_variant | MODIFIER | HG02015.hp2 NA18979.hp1 NA18992.hp1 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0003others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0257a0001c0001t0001g0292others(5): Show | 8 | 344 | 0.0233 | -3 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202799 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG01934.hp1 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0098a0001c0001t0001g0138a0001c0001t0001g0161others(7): Show | 10 | 344 | 0.0291 | -3 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227220180 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00735.hp2 others(31): Show |
a0001a0005a0006others(5): Show | a0001c0001a0005c0005a0005c0020others(9): Show | a0001c0001t0002a0005c0005t0001a0005c0005t0002others(12): Show | a0001c0001t0002g0185a0005c0005t0001g0032a0005c0005t0001g0194others(31): Show | 34 | 344 | 0.0988 | -3 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227222163 | AATG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00673.hp2 others(53): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0042a0002c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0035a0001c0001t0001g0119a0001c0001t0001g0120others(53): Show | 56 | 344 | 0.1628 | -3 | c.88- others(20): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |