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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp1 NA19000.hp1 others(1): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0002a0001c0002t0008a0004c0006t0001 | a0001c0002t0002g0030a0001c0002t0002g0034a0001c0002t0008g0058others(1): Show | 4 | 64 | 0.0625 | -19 | c.207 others(40): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121092524 | AATATATA others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 330 | 0.0030 | -19 | c.348 others(36): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121092723 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0234 | 2 | 330 | 0.0061 | -19 | c.349 others(36): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01106.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0027a0001c0001t0001g0028others(24): Show | 27 | 384 | 0.0703 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691407 | GGAAGGAA others(12): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03927.hp2 NA18960.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0180a0001c0001t0001g0182others(6): Show | 9 | 384 | 0.0234 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691411 | GGAAGAAA others(12): Show |
G | intron_variant | MODIFIER | NA18999.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0175 | 2 | 384 | 0.0052 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103563174 | AGACAAAC others(12): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0340 | 1 | 382 | 0.0026 | -19 | c.123 others(32): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COBL_chr7_51011212_51321809 | 51018906 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 NA19043.hp2 |
a0006a0024 | a0006c0029a0024c0066 | a0006c0029t0003a0024c0066t0003 | a0006c0029t0003g0053a0006c0029t0003g0170a0024c0066t0003g0051 | 3 | 230 | 0.0130 | -19 | c.376 others(38): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51224931 | TGGGCGGC others(12): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 | 1 | 230 | 0.0044 | -19 | c.42- others(34): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506599 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0334a0001c0003t0001g0086 | 2 | 354 | 0.0057 | -19 | c.106 others(38): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69332907 | TACTGGGA others(12): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 360 | 0.0028 | -19 | c.141 others(34): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 3/5 | chr16 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69889294 | ACAGGGAG others(12): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0024 | a0002c0024t0003 | a0002c0024t0003g0264 | 1 | 324 | 0.0031 | -19 | c.577 others(33): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69889308 | GGGGGGCA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(111): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0020others(111): Show | 114 | 324 | 0.3519 | -19 | c.577 others(32): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45498336 | CCCCTCTC others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0003a0011others(2): Show | a0001c0041a0003c0009a0003c0010others(7): Show | a0001c0041t0001a0003c0009t0001a0003c0010t0002others(7): Show | a0001c0041t0001g0155a0003c0009t0001g0054a0003c0009t0001g0167others(14): Show | 17 | 292 | 0.0582 | -19 | c.268 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45498370 | CGGTCCCC others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0098 | a0001c0098t0001 | a0001c0098t0001g0007 | 1 | 292 | 0.0034 | -19 | c.268 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70166220 | GGAATCTG others(12): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0142 | 1 | 182 | 0.0055 | -19 | c.244 others(36): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 37/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63291816 | GTGACAAC others(12): Show |
G | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0141 | 1 | 290 | 0.0035 | -19 | c.-14 others(30): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1369 | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56173469 | AAAGGACT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp1 |
a0001 | a0001c0014a0001c0024 | a0001c0014t0010a0001c0024t0022 | a0001c0014t0010g0010a0001c0024t0022g0148 | 2 | 264 | 0.0076 | -19 | c.641 others(36): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 3/29 | chr6 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178301973 | GGAGCACA others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0005 | a0001c0001t0003a0002c0009t0006a0003c0005t0002 | a0001c0001t0003g0006a0001c0001t0003g0122a0001c0001t0003g0142others(5): Show | 8 | 236 | 0.0339 | -19 | c.406 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178302125 | GGAGCACG others(12): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 236 | 0.0042 | -19 | c.406 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85809771 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0061 | a0006c0061t0003 | a0006c0061t0003g0232 | 1 | 238 | 0.0042 | -19 | c.395 others(38): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108814526 | GCAGATTT others(12): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0005 | a0001c0001t0005g0078a0001c0005t0005g0122 | 2 | 130 | 0.0154 | -19 | c.196 others(36): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 37/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109083448 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 130 | 0.0077 | -19 | c.368 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109307178 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0031 | 1 | 130 | 0.0077 | -19 | c.-50 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 4521 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101366499 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01070.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0002g0124a0001c0001t0002g0125a0001c0001t0002g0174others(7): Show | 10 | 174 | 0.0575 | -19 | c.158 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189007151 | TATAGATA others(12): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0113 | 1 | 376 | 0.0027 | -19 | c.325 others(36): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193801 | GGGAGGGA others(12): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 |
a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0189a0011c0012t0001g0190 | 2 | 344 | 0.0058 | -19 | c.87+ others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227291574 | AAAAAACA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(74): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0042a0001c0047others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(23): Show | a0001c0001t0001g0024a0001c0001t0002g0033a0001c0001t0002g0050others(74): Show | 77 | 344 | 0.2238 | -19 | c.321 others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227009711 | GAGGAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0149 | 1 | 284 | 0.0035 | -19 | c.452 others(36): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 46/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227163831 | TAAAGCCC others(12): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 1 | 284 | 0.0035 | -19 | c.-10 others(36): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 1/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227164267 | TGCGCAGC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 284 | 0.0035 | -19 | c.-38 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 63 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(11): Show |
a0009a0010a0012others(5): Show | a0009c0007a0009c0048a0010c0015others(8): Show | a0009c0007t0010a0009c0048t0001a0010c0015t0001others(9): Show | a0009c0007t0010g0122a0009c0048t0001g0238a0010c0015t0001g0254others(11): Show | 14 | 412 | 0.0340 | -19 | c.478 others(38): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9990053 | CCCTGGCA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(185): Show |
a0001a0002a0004others(52): Show | a0001c0033a0001c0040a0001c0045others(87): Show | a0001c0033t0002a0001c0040t0005a0001c0045t0001others(106): Show | a0001c0033t0002g0153a0001c0040t0005g0127a0001c0040t0005g0158others(184): Show | 188 | 412 | 0.4563 | -19 | c.199 others(36): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 24/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45977838 | GGAGAGAG others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02717.hp2 others(1): Show |
a0001a0011 | a0001c0003a0001c0009a0011c0019 | a0001c0003t0003a0001c0009t0002a0011c0019t0003 | a0001c0003t0003g0124a0001c0009t0002g0048a0001c0009t0002g0086others(1): Show | 4 | 128 | 0.0313 | -19 | c.-40 others(30): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3931 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981580 | CCCCGCCC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp1 HG01981.hp2 HG02015.hp1 others(6): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0003a0001c0024others(3): Show | a0001c0001t0003a0001c0003t0003a0001c0024t0003others(4): Show | a0001c0001t0003g0013a0001c0001t0003g0020a0001c0003t0003g0015others(6): Show | 9 | 128 | 0.0703 | -19 | c.-27 others(28): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 189 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46123900 | TGGATGGG others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(125): Show | 139 | 372 | 0.3737 | -19 | c.167 others(36): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46123900 | TGGATGGG others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(125): Show | 134 | 364 | 0.3681 | -19 | c.167 others(36): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130345800 | TGTGCGGC others(12): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(265): Show |
a0001a0002a0003others(84): Show | a0001c0001a0001c0014a0001c0040others(99): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(255): Show | 268 | 292 | 0.9178 | -19 | c.-19 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27801 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
COL6A5_chr3_130340672_130489846 | 130450081 | CTGGGACC others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(230): Show |
a0001a0002a0004others(62): Show | a0001c0001a0001c0014a0001c0040others(74): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(94): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(221): Show | 233 | 292 | 0.7980 | -19 | c.657 others(38): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03486.hp1 NA21309.hp1 |
a0006a0007 | a0006c0007a0007c0017a0007c0072 | a0006c0007t0001a0007c0017t0001a0007c0072t0020 | a0006c0007t0001g0191a0007c0017t0001g0009a0007c0072t0020g0190 | 3 | 264 | 0.0114 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590295 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 HG04115.hp1 others(7): Show |
a0003a0004a0005others(6): Show | a0003c0013a0004c0004a0005c0003others(7): Show | a0003c0013t0005a0004c0004t0002a0005c0003t0001others(7): Show | a0003c0013t0005g0045a0004c0004t0002g0047a0005c0003t0001g0157others(7): Show | 10 | 264 | 0.0379 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130590297 | ATATTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG02083.hp2 others(1): Show |
a0001a0005a0006others(1): Show | a0001c0056a0005c0003a0006c0007others(1): Show | a0001c0056t0002a0005c0003t0001a0006c0007t0001others(1): Show | a0001c0056t0002g0059a0005c0003t0001g0151a0006c0007t0001g0123others(1): Show | 4 | 264 | 0.0152 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A1_chr6_70211126_70308084 | 70275424 | TAAGTATA others(12): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01167.hp1 others(43): Show |
a0002a0003a0008 | a0002c0004a0002c0008a0003c0006others(2): Show | a0002c0004t0002a0002c0004t0004a0002c0008t0002others(7): Show | a0002c0004t0002g0086a0002c0004t0004g0274a0002c0008t0002g0069others(39): Show | 46 | 362 | 0.1271 | -19 | c.976 others(34): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 10/37 | chr6 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119072261 | TAGCACAC others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0064a0001c0001t0003g0065a0001c0001t0003g0066others(4): Show | 7 | 388 | 0.0180 | -19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119079025 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 388 | 0.0026 | -19 | c.149 others(38): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 318100 | CCGAGTAG others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(339): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0005others(23): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(263): Show | a0001c0003t0001g0302a0001c0003t0002g0111a0001c0003t0002g0124others(337): Show | 342 | 366 | 0.9344 | -19 | c.*19 others(30): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 1926 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 417748 | GTCATTGC others(12): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA19030.hp2 NA21309.hp2 |
a0001a0003 | a0001c0003a0001c0005a0003c0002 | a0001c0003t0256a0001c0005t0062a0003c0002t0033 | a0001c0003t0256g0356a0001c0005t0062g0201a0003c0002t0033g0309 | 3 | 366 | 0.0082 | -19 | c.59- others(36): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62014542 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 286 | 0.0035 | -19 | c.462 others(38): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62122726 | AATATCTA others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224a0001c0001t0002g0225a0001c0001t0002g0226others(4): Show | 7 | 286 | 0.0245 | -19 | c.463 others(38): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007a0001c0001t0004g0041a0001c0001t0004g0112others(1): Show | 11 | 396 | 0.0278 | -19 | c.*21 others(30): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar |