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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(49): Show | 138 | 406 | 0.3399 | 17 | c.372 others(34): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG02056.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0026a0001c0001t0001g0028a0001c0001t0001g0029others(8): Show | 14 | 406 | 0.0345 | 17 | c.372 others(34): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164818788 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0020 | a0020c0026 | a0020c0026t0008 | a0020c0026t0008g0033 | 1 | 212 | 0.0047 | 17 | c.41+ others(34): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190 | 1 | 230 | 0.0044 | 17 | c.376 others(36): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0014 | 1 | 230 | 0.0044 | 17 | c.376 others(36): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018905 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0029 | a0029c0042 | a0029c0042t0001 | a0029c0042t0001g0166 | 1 | 230 | 0.0044 | 17 | c.376 others(36): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 NA19065.hp2 |
a0005a0012a0016 | a0005c0006a0012c0021a0016c0022 | a0005c0006t0002a0012c0021t0001a0016c0022t0001 | a0005c0006t0002g0040a0012c0021t0001g0127a0016c0022t0001g0125 | 3 | 230 | 0.0130 | 17 | c.958 others(36): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTGTT others(10): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0309 | 1 | 478 | 0.0021 | 17 | c.629 others(34): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COCH_chr14_30869559_30895618 | 30895053 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 478 | 0.0021 | 17 | c.*52 others(28): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(10): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0109 | 1 | 428 | 0.0023 | 17 | c.-28 others(28): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73207092 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG03516.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044a0002c0001t0001g0047a0002c0001t0001g0105others(1): Show | 4 | 428 | 0.0094 | 17 | c.273 others(32): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45486338 | A | AGGGAGAG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01981.hp1 HG02129.hp1 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0012a0005c0019 | a0001c0001t0001a0002c0012t0001a0005c0019t0001 | a0001c0001t0001g0052a0001c0001t0001g0069a0001c0001t0001g0075others(11): Show | 14 | 342 | 0.0409 | 17 | c.844 others(32): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70504609 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0347a0001c0003t0004g0348 | 2 | 354 | 0.0057 | 17 | c.106 others(36): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506593 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0127 | 1 | 354 | 0.0028 | 17 | c.106 others(36): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG02071.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0007a0001c0001t0003g0001a0001c0001t0003g0023others(4): Show | 7 | 370 | 0.0189 | 17 | c.-40 others(28): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 370 | 0.0027 | 17 | c.788 others(34): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39730773 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01069.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0092a0001c0001t0001g0107others(12): Show | 15 | 370 | 0.0405 | 17 | c.182 others(36): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL12A1_chr6_75079326_75211053 | 75208158 | C | CTCTCTCT others(10): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0023 | a0002c0023t0005 | a0002c0023t0005g0123 | 1 | 206 | 0.0049 | 17 | c.-24 others(28): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2106 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208160 | C | CTCTCTCT others(10): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 206 | 0.0049 | 17 | c.-24 others(28): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2108 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0152 | 1 | 324 | 0.0031 | 17 | c.365 others(34): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 218 | 0.0046 | 17 | c.878 others(32): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | chr8 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707392 | T | TTCTTTTC others(10): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 NA18994.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0227a0001c0003t0002g0255 | 2 | 342 | 0.0059 | 17 | c.-35 others(28): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3376 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405285 | C | CGGCTGCG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(5): Show |
a0001a0002a0009 | a0001c0005a0001c0007a0001c0013others(3): Show | a0001c0005t0003a0001c0007t0002a0001c0013t0002others(4): Show | a0001c0005t0003g0211a0001c0007t0002g0208a0001c0013t0002g0206others(5): Show | 8 | 292 | 0.0274 | 17 | c.11+ others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45405285 | C | CGGCTGCG others(10): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18964.hp1 NA19060.hp2 |
a0001a0007 | a0001c0002a0007c0034a0007c0076 | a0001c0002t0002a0007c0034t0001a0007c0076t0002 | a0001c0002t0002g0283a0007c0034t0001g0282a0007c0076t0002g0281 | 3 | 292 | 0.0103 | 17 | c.11+ others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490057 | A | ACTCCCCC others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0155 | 1 | 292 | 0.0034 | 17 | c.196 others(34): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490082 | C | CGACTCCC others(10): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0017 | a0017c0043 | a0017c0043t0002 | a0017c0043t0002g0015 | 1 | 292 | 0.0034 | 17 | c.196 others(34): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0004 | a0002c0004t0019 | a0002c0004t0019g0011 | 1 | 182 | 0.0055 | 17 | c.92- others(32): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70016366 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 HG06807.hp1 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0039a0002c0004t0006 | a0002c0003t0039g0127a0002c0004t0006g0109 | 2 | 182 | 0.0110 | 17 | c.102 others(36): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63308102 | G | GCCTGCCC others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0001c0014others(5): Show | a0001c0001t0001a0001c0009t0013a0001c0014t0003others(8): Show | a0001c0001t0001g0197a0001c0009t0013g0216a0001c0009t0013g0221others(14): Show | 17 | 290 | 0.0586 | 17 | c.775 others(30): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56097838 | A | ATATATAA others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 264 | 0.0038 | 17 | c.181 others(36): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148369 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135a0001c0001t0005g0155 | 2 | 264 | 0.0076 | 17 | c.143 others(36): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TAATATAT others(10): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0009 | a0002c0009t0015 | a0002c0009t0015g0146 | 1 | 158 | 0.0063 | 17 | c.-73 others(36): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517556 | A | AGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01074.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0055a0001c0001t0002g0150a0001c0001t0004g0054others(8): Show | 11 | 236 | 0.0466 | 17 | c.361 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517558 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02572.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0010others(4): Show | a0001c0001t0003g0119a0001c0001t0003g0212a0001c0001t0003g0213others(6): Show | 9 | 236 | 0.0381 | 17 | c.361 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178548037 | A | ACCCACAA others(10): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0136 | 1 | 236 | 0.0042 | 17 | c.361 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178562733 | T | TGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03486.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0158a0002c0003t0003g0173 | 2 | 236 | 0.0085 | 17 | c.295 others(34): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18973.hp2 NA18999.hp1 |
a0001a0003a0012 | a0001c0001a0003c0005a0012c0012 | a0001c0001t0006a0003c0005t0002a0012c0012t0002 | a0001c0001t0006g0227a0003c0005t0002g0163a0012c0012t0002g0162 | 3 | 236 | 0.0127 | 17 | c.295 others(34): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0066a0002c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(26): Show | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0114others(59): Show | 62 | 238 | 0.2605 | 17 | c.277 others(34): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86008957 | T | TTTAAAAC others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01243.hp1 others(36): Show |
a0002a0004a0006others(14): Show | a0002c0003a0004c0002a0006c0017others(21): Show | a0002c0003t0004a0004c0002t0001a0004c0002t0002others(29): Show | a0002c0003t0004g0131a0004c0002t0001g0151a0004c0002t0001g0154others(36): Show | 39 | 238 | 0.1639 | 17 | c.231 others(36): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03927.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0088a0001c0001t0002g0111a0001c0001t0003g0025 | 3 | 130 | 0.0231 | 17 | c.*60 others(28): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0033 | 2 | 130 | 0.0154 | 17 | c.184 others(36): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101386273 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0128 | 1 | 174 | 0.0058 | 17 | c.158 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101397477 | T | TTCCTTCT others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(21): Show | a0001c0001t0001g0114a0001c0001t0002g0064a0001c0001t0002g0111others(55): Show | 58 | 174 | 0.3333 | 17 | c.159 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101420704 | C | CCTCACCA others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0114a0001c0001t0002g0084a0001c0001t0002g0086others(133): Show | 136 | 174 | 0.7816 | 17 | c.281 others(32): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101446046 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0003 | 1 | 174 | 0.0058 | 17 | c.282 others(34): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101471567 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0010 | 1 | 174 | 0.0058 | 17 | c.385 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489858 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 174 | 0.0058 | 17 | c.385 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0031 | a0031c0033 | a0031c0033t0003 | a0031c0033t0003g0031 | 1 | 196 | 0.0051 | 17 | c.236 others(34): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02818.hp2 others(2): Show |
a0001a0006a0007 | a0001c0005a0006c0015a0006c0019others(1): Show | a0001c0005t0002a0006c0015t0002a0006c0019t0002others(1): Show | a0001c0005t0002g0067a0006c0015t0002g0101a0006c0019t0002g0187others(2): Show | 5 | 196 | 0.0255 | 17 | c.236 others(34): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 NA18982.hp1 NA19079.hp1 |
a0003a0004 | a0003c0014a0003c0049a0004c0077 | a0003c0014t0001a0003c0049t0001a0004c0077t0001 | a0003c0014t0001g0212a0003c0049t0001g0243a0004c0077t0001g0015 | 3 | 344 | 0.0087 | 17 | c.*49 others(28): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar |