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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL14A1_chr8_120120102_120378573 | 120173564 | C | CATCTATC others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG01106.hp1 others(28): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0115others(28): Show | 31 | 218 | 0.1422 | 24 | c.436 others(41): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0123 | 1 | 218 | 0.0046 | 24 | c.878 others(39): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950550 | C | CCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 310 | 0.0032 | 24 | c.100 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02965.hp2 others(3): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0003a0002c0069others(3): Show | a0001c0001t0002a0002c0003t0007a0002c0069t0010others(3): Show | a0001c0001t0002g0022a0002c0003t0007g0003a0002c0069t0010g0047others(3): Show | 6 | 310 | 0.0194 | 24 | c.100 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0309 | 1 | 310 | 0.0032 | 24 | c.100 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 310 | 0.0032 | 24 | c.185 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 310 | 0.0032 | 24 | c.365 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31707338 | C | CCTTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 342 | 0.0029 | 24 | c.-35 others(35): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3322 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01928.hp1 HG01928.hp2 others(3): Show |
a0001a0002a0018 | a0001c0003a0001c0006a0001c0008others(2): Show | a0001c0003t0002a0001c0006t0001a0001c0008t0002others(2): Show | a0001c0003t0002g0210a0001c0003t0002g0220a0001c0006t0001g0280others(3): Show | 6 | 342 | 0.0175 | 24 | c.-35 others(35): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45409041 | T | TGGCTGAG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(237): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0003others(89): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(103): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0033others(237): Show | 240 | 292 | 0.8219 | 24 | c.106 others(41): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45443117 | C | CGGTGGTG others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0027 | a0027c0070 | a0027c0070t0001 | a0027c0070t0001g0012 | 1 | 292 | 0.0034 | 24 | c.107 others(43): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL1A1_chr17_50179101_50206631 | 50202468 | G | GGGTGGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0039 | 1 | 448 | 0.0022 | 24 | c.-95 others(33): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 838 | chr17 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098598 | T | TATATAAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01074.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0018 | a0001c0001t0005g0096a0001c0001t0005g0135a0001c0001t0005g0154others(17): Show | 20 | 264 | 0.0758 | 24 | c.181 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0104a0001c0001t0001g0160a0001c0001t0001g0242others(3): Show | 6 | 264 | 0.0227 | 24 | c.143 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0093 | 1 | 158 | 0.0063 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001a0003 | a0001c0016a0003c0031 | a0001c0016t0001a0003c0031t0004 | a0001c0016t0001g0132a0003c0031t0004g0031 | 2 | 158 | 0.0127 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0011 | a0002c0011t0006 | a0002c0011t0006g0122 | 1 | 158 | 0.0063 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0083a0001c0001t0001g0101a0001c0001t0001g0116others(19): Show | 22 | 158 | 0.1392 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0031 | a0003c0031t0004 | a0003c0031t0004g0031 | 1 | 158 | 0.0063 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663016 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 HG03209.hp2 |
a0001a0002 | a0001c0017a0001c0044a0002c0009 | a0001c0017t0005a0001c0044t0002a0002c0009t0002 | a0001c0017t0005g0152a0001c0044t0002g0065a0002c0009t0002g0089 | 3 | 158 | 0.0190 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0028 | 1 | 158 | 0.0063 | 24 | c.315 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0001 | a0001c0015a0001c0057 | a0001c0015t0002a0001c0057t0009 | a0001c0015t0002g0120a0001c0057t0009g0048 | 2 | 158 | 0.0127 | 24 | c.315 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0010 | a0001c0056a0001c0057a0002c0009others(2): Show | a0001c0056t0004a0001c0057t0009a0002c0009t0002others(2): Show | a0001c0056t0004g0039a0001c0057t0009g0048a0002c0009t0002g0089others(2): Show | 5 | 158 | 0.0317 | 24 | c.159 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138805029 | T | TGGTGTAG others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0156 | 1 | 158 | 0.0063 | 24 | c.149 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0228 | 1 | 236 | 0.0042 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0105 | 1 | 236 | 0.0042 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACTC others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18955.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0004 | a0001c0001t0005g0147a0001c0004t0004g0223 | 2 | 236 | 0.0085 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG02109.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015a0002c0002t0001g0040a0002c0002t0001g0046 | 3 | 236 | 0.0127 | 24 | c.730 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178290423 | G | GCCTGTCC others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0019a0008c0018others(1): Show | a0002c0002t0009a0007c0019t0005a0008c0018t0003others(1): Show | a0002c0002t0009g0225a0007c0019t0005g0160a0008c0018t0003g0215others(1): Show | 4 | 236 | 0.0170 | 24 | c.407 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178420422 | T | TCTCCCCT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0090a0005c0008t0002g0091 | 2 | 236 | 0.0085 | 24 | c.362 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0120 | 1 | 236 | 0.0042 | 24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01106.hp1 others(21): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0011others(13): Show | a0001c0001t0010a0001c0005t0002a0002c0011t0003others(16): Show | a0001c0001t0010g0132a0001c0001t0010g0142a0001c0005t0002g0186others(21): Show | 24 | 238 | 0.1008 | 24 | c.395 others(45): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0018 | a0018c0023 | a0018c0023t0004 | a0018c0023t0004g0108 | 1 | 238 | 0.0042 | 24 | c.395 others(45): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0024 | a0024c0026 | a0024c0026t0001 | a0024c0026t0001g0037 | 1 | 238 | 0.0042 | 24 | c.330 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01074.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0159a0001c0001t0002g0125a0001c0001t0002g0178others(17): Show | 20 | 238 | 0.0840 | 24 | c.330 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01884.hp2 HG02976.hp1 others(1): Show |
a0002a0005a0018others(1): Show | a0002c0011a0005c0013a0018c0023others(1): Show | a0002c0011t0003a0005c0013t0003a0018c0023t0004others(1): Show | a0002c0011t0003g0213a0005c0013t0003g0095a0018c0023t0004g0107others(1): Show | 4 | 238 | 0.0168 | 24 | c.277 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86111532 | G | GATCAGCG others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(25): Show |
a0003a0004a0006others(5): Show | a0003c0007a0003c0027a0003c0056others(11): Show | a0003c0007t0001a0003c0007t0002a0003c0007t0003others(16): Show | a0003c0007t0001g0075a0003c0007t0002g0076a0003c0007t0002g0079others(25): Show | 28 | 238 | 0.1177 | 24 | c.159 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0128 | 1 | 130 | 0.0077 | 24 | c.184 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108832973 | T | TAATAAAT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0002t0001 | a0001c0001t0002g0129a0001c0001t0011g0044a0001c0001t0011g0047others(1): Show | 4 | 130 | 0.0308 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108832973 | T | TAATAAAT others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 130 | 0.0077 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108832974 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0059others(52): Show | 55 | 130 | 0.4231 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 130 | 0.0077 | 24 | c.165 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109013365 | A | AAAAATGG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0048others(86): Show | 89 | 130 | 0.6846 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019373 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18998.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0009t0002 | a0001c0001t0002g0116a0001c0001t0003g0025a0001c0009t0002g0097 | 3 | 130 | 0.0231 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0086 | 1 | 130 | 0.0077 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0002g0063a0001c0001t0002g0102a0001c0001t0002g0116others(5): Show | 8 | 130 | 0.0615 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0062a0001c0005t0002g0124 | 2 | 130 | 0.0154 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109256085 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0052a0001c0004t0001g0043 | 2 | 130 | 0.0154 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0119a0002c0004t0001g0097 | 2 | 174 | 0.0115 | 24 | c.158 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101450744 | T | TTCTATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(29): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0114a0001c0001t0002g0084a0001c0001t0002g0086others(29): Show | 32 | 174 | 0.1839 | 24 | c.385 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |