| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL6A2_chr21_46093112_46134801 | 46124293 | TTGGGCGA others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp2 HG04204.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0003others(1): Show | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0005t0001g0100others(2): Show | 5 | 372 | 0.0134 | -8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A2_chr21_46093112_46134801 | 46134348 | TGGGGGTC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02109.hp1 HG02145.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0008a0003c0004others(2): Show | a0001c0002t0002a0002c0008t0005a0003c0004t0004others(3): Show | a0001c0002t0002g0255a0002c0008t0005g0025a0003c0004t0004g0097others(4): Show | 7 | 372 | 0.0188 | -8 | c.*48 others(19): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4548 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46137848 | 46101847 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(71): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0001g0049a0001c0002t0001g0322a0001c0002t0002g0001others(60): Show | 74 | 364 | 0.2033 | -8 | c.-28 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A2_chr21_46093112_46137848 | 46123544 | TGGATGGG others(1): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
a0003a0008 | a0003c0008a0008c0027 | a0003c0008t0003a0008c0027t0003 | a0003c0008t0003g0045a0008c0027t0003g0013 | 3 | 364 | 0.0082 | -8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A2_chr21_46093112_46137848 | 46124293 | TTGGGCGA others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02630.hp2 HG04204.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0004t0001g0102others(2): Show | 5 | 364 | 0.0137 | -8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A2_chr21_46093112_46137848 | 46134348 | TGGGGGTC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02109.hp1 HG02145.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0012a0004c0005others(2): Show | a0001c0002t0002a0002c0012t0001a0004c0005t0001others(2): Show | a0001c0002t0002g0252a0002c0012t0001g0026a0004c0005t0001g0099others(4): Show | 7 | 364 | 0.0192 | -8 | c.*17 others(19): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1501 | chr21 | TogoVar | ||||||
| COL6A3_chr2_237319018_237419164 | 237332070 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03017.hp2 HG03492.hp2 others(1): Show |
a0003a0004 | a0003c0027a0003c0033a0004c0003 | a0003c0027t0001a0003c0033t0001a0004c0003t0003 | a0003c0027t0001g0149a0003c0033t0001g0174a0004c0003t0003g0068others(1): Show | 4 | 322 | 0.0124 | -8 | c.932 others(27): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | ||||||
| COL6A3_chr2_237319018_237419164 | 237391504 | CTGTTTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(70): Show |
a0001a0002a0003others(21): Show | a0001c0004a0001c0040a0001c0059others(38): Show | a0001c0004t0001a0001c0004t0002a0001c0040t0001others(47): Show | a0001c0004t0001g0153a0001c0004t0001g0228a0001c0004t0002g0067others(69): Show | 73 | 322 | 0.2267 | -8 | c.709 others(25): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 3/43 | chr2 | TogoVar | ||||||
| COL6A3_chr2_237319018_237419164 | 237415339 | AGAGAAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(145): Show |
a0001a0002a0003others(41): Show | a0001c0002a0001c0004a0001c0014others(79): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(99): Show | a0001c0002t0001g0036a0001c0002t0001g0088a0001c0002t0001g0092others(144): Show | 148 | 322 | 0.4596 | -8 | c.-14 others(19): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1176 | chr2 | TogoVar | ||||||
| COL6A5_chr3_130340672_130489846 | 130393070 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(125): Show |
a0002a0003a0007others(46): Show | a0002c0002a0002c0034a0002c0047others(55): Show | a0002c0002t0001a0002c0002t0002a0002c0034t0001others(63): Show | a0002c0002t0001g0004a0002c0002t0001g0103a0002c0002t0001g0110others(121): Show | 128 | 292 | 0.4384 | -8 | c.299 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 7/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A5_chr3_130340672_130489846 | 130438389 | ATGAATGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01361.hp2 others(13): Show |
a0011a0013a0014others(2): Show | a0011c0012a0013c0016a0013c0075others(3): Show | a0011c0012t0002a0013c0016t0001a0013c0016t0010others(5): Show | a0011c0012t0002g0195a0013c0016t0001g0144a0013c0016t0010g0013others(13): Show | 16 | 292 | 0.0548 | -8 | c.573 others(27): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A5_chr3_130340672_130489846 | 130439339 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp2 HG02300.hp2 others(2): Show |
a0001a0002a0032others(1): Show | a0001c0001a0002c0002a0032c0100others(1): Show | a0001c0001t0002a0002c0002t0001a0032c0100t0002others(1): Show | a0001c0001t0002g0222a0001c0001t0002g0260a0002c0002t0001g0172others(2): Show | 5 | 292 | 0.0171 | -8 | c.573 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A5_chr3_130340672_130489846 | 130472832 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02717.hp2 HG03209.hp2 others(1): Show |
a0029a0031a0091 | a0029c0088a0031c0037a0091c0078 | a0029c0088t0014a0031c0037t0004a0031c0037t0013others(1): Show | a0029c0088t0014g0088a0031c0037t0004g0037a0031c0037t0013g0035others(1): Show | 4 | 292 | 0.0137 | -8 | c.781 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130531031 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02922.hp1 HG02970.hp1 others(1): Show |
a0001a0009a0016 | a0001c0001a0009c0005a0016c0020 | a0001c0001t0001a0009c0005t0004a0016c0020t0008 | a0001c0001t0001g0121a0001c0001t0001g0183a0009c0005t0004g0223others(1): Show | 4 | 264 | 0.0152 | -8 | c.-32 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130531054 | ACACACAG others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02976.hp2 others(1): Show |
a0002a0043 | a0002c0002a0043c0046 | a0002c0002t0002a0002c0002t0004a0002c0002t0007others(1): Show | a0002c0002t0002g0074a0002c0002t0004g0202a0002c0002t0007g0201others(1): Show | 4 | 264 | 0.0152 | -8 | c.-32 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130560929 | AACCACCT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp1 others(88): Show |
a0001a0002a0009others(10): Show | a0001c0001a0001c0056a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(36): Show | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(88): Show | 91 | 264 | 0.3447 | -8 | c.64+ others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130561634 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01070.hp2 others(20): Show |
a0003a0005a0006others(2): Show | a0003c0010a0003c0013a0005c0003others(4): Show | a0003c0010t0004a0003c0013t0014a0005c0003t0001others(13): Show | a0003c0010t0004g0222a0003c0013t0014g0031a0005c0003t0001g0151others(20): Show | 23 | 264 | 0.0871 | -8 | c.64+ others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130637093 | CCCCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0010others(31): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(50): Show | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0095others(66): Show | 69 | 264 | 0.2614 | -8 | c.509 others(27): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL6A6_chr3_130512177_130682042 | 130678675 | TTAAATAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
a0001a0002a0003others(20): Show | a0001c0001a0002c0002a0002c0049others(27): Show | a0001c0001t0005a0001c0001t0007a0002c0002t0003others(42): Show | a0001c0001t0005g0061a0001c0001t0007g0090a0002c0002t0003g0004others(70): Show | 73 | 264 | 0.2765 | -8 | c.*32 others(19): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1634 | chr3 | TogoVar | ||||||
| COL7A1_chr3_48559073_48600329 | 48559898 | CCACACAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01257.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0003others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0004t0001g0015others(5): Show | 10 | 236 | 0.0424 | -8 | c.*45 others(19): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 4174 | chr3 | TogoVar | ||||||
| COL8A1_chr3_99633594_99804217 | 99798614 | ATATATGT others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | 262 | 0.0115 | -8 | c.*24 others(19): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2480 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| COL8A2_chr1_36090239_36130222 | 36090679 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(35): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0006others(2): Show | a0001c0001t0004g0011a0001c0001t0004g0013a0001c0001t0004g0040others(30): Show | 38 | 390 | 0.0974 | -8 | c.*68 others(19): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 4559 | chr1 | TogoVar | ||||||
| COL9A1_chr6_70211126_70308084 | 70293631 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00733.hp1 others(50): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0012t0001others(13): Show | a0001c0001t0002g0001a0001c0001t0002g0287a0001c0001t0003g0310others(46): Show | 53 | 362 | 0.1464 | -8 | c.696 others(23): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | ||||||
| COL9A2_chr1_40295489_40322286 | 40302811 | TGGAGGGA others(1): Show |
T | splice_region_variant others(1): Show |
LOW | HG01069.hp2 HG01243.hp2 HG01884.hp2 others(15): Show |
a0002a0005a0010others(1): Show | a0002c0002a0005c0004a0010c0011others(1): Show | a0002c0002t0004a0005c0004t0001a0005c0004t0003others(2): Show | a0002c0002t0004g0026a0002c0002t0004g0099a0005c0004t0001g0097others(8): Show | 18 | 438 | 0.0411 | -8 | c.160 others(22): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 29/31 | chr1 | TogoVar | ||||||
| COL9A2_chr1_40295489_40322286 | 40321122 | ATTATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01952.hp2 HG02135.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001 | a0001c0001t0006g0120a0002c0002t0001g0002a0002c0002t0001g0005others(5): Show | 8 | 438 | 0.0183 | -8 | c.-39 others(19): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | ||||||
| COL9A2_chr1_40295489_40322286 | 40321123 | TTATATAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02257.hp1 HG03710.hp2 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0007a0004c0003t0001g0146 | 3 | 438 | 0.0069 | -8 | c.-39 others(19): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3838 | chr1 | TogoVar | ||||||
| COLEC10_chr8_119062247_119113455 | 119069629 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp1 HG01358.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0240a0001c0001t0004g0002a0001c0001t0004g0009others(16): Show | 22 | 388 | 0.0567 | -8 | c.148 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119073953 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(137): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0072a0001c0001t0001g0163a0001c0001t0001g0164others(126): Show | 140 | 388 | 0.3608 | -8 | c.148 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18961.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009 | a0001c0001t0002g0081a0001c0001t0002g0089a0001c0001t0002g0093others(4): Show | 7 | 388 | 0.0180 | -8 | c.149 others(27): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119085599 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0004g0237a0001c0001t0004g0238a0001c0001t0004g0239others(11): Show | 14 | 388 | 0.0361 | -8 | c.149 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119091595 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0017a0001c0001t0001g0072others(11): Show | 15 | 388 | 0.0387 | -8 | c.292 others(23): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119102206 | TCCTTCCT others(1): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18965.hp1 NA18984.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289a0001c0001t0001g0290a0001c0001t0001g0297others(3): Show | 6 | 388 | 0.0155 | -8 | c.293 others(23): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC10_chr8_119062247_119113455 | 119102210 | TCCTCCCT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(119): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0004others(109): Show | 122 | 388 | 0.3144 | -8 | c.293 others(23): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| COLEC11_chr2_3590112_3649644 | 3592282 | ACGGGGAC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0252a0001c0001t0001g0258a0002c0002t0001g0065 | 3 | 378 | 0.0079 | -8 | c.-29 others(19): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2829 | chr2 | TogoVar | ||||||
| COLEC11_chr2_3590112_3649644 | 3592288 | ACGGGGAC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0187a0001c0001t0001g0188others(26): Show | 31 | 378 | 0.0820 | -8 | c.-29 others(19): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2823 | chr2 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 315232 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0007a0001c0003t0087a0001c0003t0151others(45): Show | a0001c0003t0007g0222a0001c0003t0087g0053a0001c0003t0151g0289others(51): Show | 54 | 366 | 0.1475 | -8 | c.*48 others(19): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1504 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 319321 | TAAAAAAA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01433.hp2 HG01516.hp2 others(7): Show |
a0001a0002a0005 | a0001c0003a0001c0008a0002c0001others(1): Show | a0001c0003t0153a0001c0003t0154a0001c0008t0146others(5): Show | a0001c0003t0153g0091a0001c0003t0154g0171a0001c0008t0146g0317others(7): Show | 10 | 366 | 0.0273 | -8 | c.*71 others(17): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 716 | chr18 | TogoVar | |||||
| COLEC12_chr18_311737_505701 | 319335 | AAAAAAAA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01071.hp1 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0008others(8): Show | a0001c0003t0005a0001c0003t0008a0001c0003t0038others(20): Show | a0001c0003t0005g0044a0001c0003t0005g0153a0001c0003t0005g0329others(30): Show | 33 | 366 | 0.0902 | -8 | c.*70 others(17): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | |||||
| COLEC12_chr18_311737_505701 | 319337 | AAAAAATA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0002c0007others(3): Show | a0001c0003t0001a0001c0003t0018a0002c0001t0001others(11): Show | a0001c0003t0001g0302a0001c0003t0018g0100a0001c0003t0018g0323others(23): Show | 26 | 366 | 0.0710 | -8 | c.*70 others(17): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 700 | chr18 | TogoVar | |||||
| COLEC12_chr18_311737_505701 | 325627 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp2 others(41): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0007a0001c0003t0013a0001c0003t0058others(29): Show | a0001c0003t0007g0222a0001c0003t0013g0002a0001c0003t0013g0165others(40): Show | 44 | 366 | 0.1202 | -8 | c.206 others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 385316 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02738.hp2 others(3): Show |
a0001a0003a0004 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0133a0001c0004t0043a0001c0005t0165others(3): Show | a0001c0003t0133g0256a0001c0004t0043g0116a0001c0005t0165g0246others(3): Show | 6 | 366 | 0.0164 | -8 | c.59- others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 440370 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0092a0001c0003t0151a0001c0005t0248 | a0001c0003t0092g0337a0001c0003t0151g0289a0001c0005t0248g0357 | 3 | 366 | 0.0082 | -8 | c.58+ others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 442000 | TCTACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG01074.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0009a0001c0003t0019a0001c0003t0042others(18): Show | a0001c0003t0009g0344a0001c0003t0019g0042a0001c0003t0042g0130others(19): Show | 22 | 366 | 0.0601 | -8 | c.58+ others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 442002 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0186a0001c0004t0005a0001c0004t0037others(29): Show | a0001c0003t0186g0339a0001c0004t0005g0014a0001c0004t0005g0112others(31): Show | 35 | 366 | 0.0956 | -8 | c.58+ others(25): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLEC12_chr18_311737_505701 | 472678 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(154): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0001c0005others(17): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(132): Show | a0001c0003t0002g0111a0001c0003t0002g0198a0001c0003t0002g0199others(153): Show | 157 | 366 | 0.4290 | -8 | c.58+ others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
| COLGALT1_chr19_17550649_17588157 | 17552913 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02257.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0045others(6): Show | a0001c0001t0001g0184a0001c0001t0001g0201a0001c0001t0005g0152others(16): Show | 22 | 396 | 0.0556 | -8 | c.-28 others(19): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 2735 | chr19 | TogoVar | ||||||
| COLGALT1_chr19_17550649_17588157 | 17561631 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(38): Show |
a0001a0002a0004 | a0001c0003a0002c0014a0004c0015 | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(7): Show | a0001c0003t0001g0025a0001c0003t0002g0085a0001c0003t0004g0001others(21): Show | 41 | 396 | 0.1035 | -8 | c.489 others(25): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| COLGALT1_chr19_17550649_17588157 | 17564293 | GTATACAT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0024a0001c0002t0002a0001c0002t0010others(9): Show | a0001c0001t0024g0076a0001c0001t0024g0077a0001c0002t0002g0002others(38): Show | 63 | 396 | 0.1591 | -8 | c.490 others(25): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| COLGALT2_chr1_183930834_184042728 | 183936424 | CACAGTAG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02109.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0035a0001c0001t0039 | a0001c0001t0016g0148a0001c0001t0016g0201a0001c0001t0016g0209others(2): Show | 5 | 340 | 0.0147 | -8 | c.*23 others(19): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 12/12 | 2329 | chr1 | TogoVar | |||||
| COLGALT2_chr1_183930834_184042728 | 184031817 | ATCCTTCC others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0022others(4): Show | a0001c0001t0003g0150a0001c0001t0003g0309a0001c0001t0003g0310others(6): Show | 9 | 340 | 0.0265 | -8 | c.263 others(25): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar |