view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A3_chr19_9954561_10015504 | 9976387 | T | TTGGGATT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01069.hp2 others(28): Show |
a0009a0010a0030others(6): Show | a0009c0007a0009c0048a0010c0014others(10): Show | a0009c0007t0001a0009c0007t0005a0009c0007t0010others(16): Show | a0009c0007t0001g0220 a0009c0007t0001g0221 a0009c0007t0001g0229 others(28): Show |
31 | 412 | 0.0752 | 18 | c.334 others(35): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 45/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9983521 | A | AAATAAAG others(11): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0011 | a0011c0006 | a0011c0006t0003 | a0011c0006t0003g0174 | 1 | 412 | 0.0024 | 18 | c.240 others(37): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981646 | T | TCCCCCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 128 | 0.0078 | 18 | c.-20 others(27): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 123 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981685 | T | TCCCGCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02965.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0008 | a0002c0001t0001g0120 a0002c0001t0008g0118 |
2 | 128 | 0.0156 | 18 | c.-16 others(27): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 84 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134395 | T | TAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0030 | 1 | 372 | 0.0027 | 18 | c.*49 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4595 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134467 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp1 others(86): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(80): Show |
89 | 372 | 0.2393 | 18 | c.*49 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4667 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134545 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(63): Show |
70 | 372 | 0.1882 | 18 | c.*50 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4745 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134545 | G | GAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 NA19070.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0187 |
3 | 372 | 0.0081 | 18 | c.*50 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4745 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134551 | G | GAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01255.hp2 others(16): Show |
a0002 | a0002c0003a0002c0047a0002c0048 | a0002c0003t0003a0002c0047t0003a0002c0048t0003 | a0002c0003t0003g0021 a0002c0003t0003g0023 a0002c0003t0003g0024 others(16): Show |
19 | 372 | 0.0511 | 18 | c.*50 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4751 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134647 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0210 | 1 | 372 | 0.0027 | 18 | c.*51 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4847 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134671 | C | CAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0240 | 1 | 372 | 0.0027 | 18 | c.*51 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4871 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134677 | C | CAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0070 | 1 | 372 | 0.0027 | 18 | c.*51 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4877 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134395 | T | TAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0031 | 1 | 364 | 0.0028 | 18 | c.*18 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1548 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134467 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(23): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 others(81): Show |
86 | 364 | 0.2363 | 18 | c.*19 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1620 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134545 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0033 others(66): Show |
69 | 364 | 0.1896 | 18 | c.*19 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1698 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134545 | G | GAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 |
2 | 364 | 0.0055 | 18 | c.*19 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1698 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134551 | G | GAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01255.hp2 others(16): Show |
a0002 | a0002c0003a0002c0065a0002c0066 | a0002c0003t0001a0002c0065t0001a0002c0066t0001 | a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0025 others(16): Show |
19 | 364 | 0.0522 | 18 | c.*19 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1704 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134647 | G | GAGGGTCA others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0206 | 1 | 364 | 0.0028 | 18 | c.*20 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1800 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134671 | C | CAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0236 | 1 | 364 | 0.0028 | 18 | c.*21 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1824 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134677 | C | CAGGGTGA others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 364 | 0.0028 | 18 | c.*21 others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1830 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332070 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG01981.hp1 others(2): Show |
a0002 | a0002c0001a0002c0092 | a0002c0001t0001a0002c0092t0002 | a0002c0001t0001g0249 a0002c0001t0001g0259 a0002c0001t0001g0298 others(2): Show |
5 | 322 | 0.0155 | 18 | c.932 others(37): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237332117 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02071.hp2 HG02258.hp1 others(7): Show |
a0003a0004a0008others(2): Show | a0003c0005a0003c0015a0004c0003others(5): Show | a0003c0005t0003a0003c0015t0003a0004c0003t0002others(5): Show | a0003c0005t0003g0059 a0003c0015t0003g0209 a0004c0003t0002g0002 others(6): Show |
10 | 322 | 0.0311 | 18 | c.932 others(37): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130362252 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01433.hp2 others(15): Show |
a0005a0008a0009others(6): Show | a0005c0006a0008c0010a0008c0026others(7): Show | a0005c0006t0007a0008c0010t0001a0008c0026t0009others(9): Show | a0005c0006t0007g0007 a0008c0010t0001g0169 a0008c0026t0009g0164 others(14): Show |
18 | 292 | 0.0616 | 18 | c.-28 others(37): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130472832 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01081.hp2 others(29): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0003c0004others(17): Show | a0001c0001t0002a0002c0002t0001a0003c0004t0001others(18): Show | a0001c0001t0002g0256 a0001c0001t0002g0265 a0002c0002t0001g0004 others(28): Show |
32 | 292 | 0.1096 | 18 | c.781 others(35): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130531054 | A | AGTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0004 | a0004c0028 | a0004c0028t0004 | a0004c0028t0004g0236 | 1 | 264 | 0.0038 | 18 | c.-32 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130531061 | G | GTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0019 | a0019c0020 | a0019c0020t0003 | a0019c0020t0003g0198 | 1 | 264 | 0.0038 | 18 | c.-32 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130611205 | A | ACTGCTCT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03516.hp1 |
a0008 | a0008c0040 | a0008c0040t0004 | a0008c0040t0004g0234 a0008c0040t0004g0235 |
2 | 264 | 0.0076 | 18 | c.481 others(35): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130637097 | T | TCCCCCTC others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(27): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0010a0004c0021others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(13): Show | a0002c0002t0001g0013 a0002c0002t0001g0124 a0002c0002t0002g0041 others(27): Show |
30 | 264 | 0.1136 | 18 | c.509 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130637101 | T | TCCCTCCC others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 NA18982.hp2 others(1): Show |
a0001a0002a0015 | a0001c0001a0002c0049a0015c0036 | a0001c0001t0001a0002c0049t0003a0015c0036t0008 | a0001c0001t0001g0188 a0002c0049t0003g0189 a0015c0036t0008g0001 |
4 | 264 | 0.0152 | 18 | c.509 others(37): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773835 | A | ATTATATA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 262 | 0.0038 | 18 | c.-3- others(35): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 a0001c0001t0004g0074 |
2 | 262 | 0.0076 | 18 | c.-3- others(35): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 262 | 0.0038 | 18 | c.-3- others(35): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70227424 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG03471.hp1 |
a0002a0004 | a0002c0008a0004c0009 | a0002c0008t0005a0004c0009t0001 | a0002c0008t0005g0332 a0004c0009t0001g0319 a0004c0009t0001g0320 |
3 | 362 | 0.0083 | 18 | c.250 others(37): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AAATTATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011 | 1 | 438 | 0.0023 | 18 | c.-39 others(29): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321158 | T | TATATATA others(11): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA19077.hp1 |
a0001a0026 | a0001c0002a0026c0027 | a0001c0002t0001a0026c0027t0001 | a0001c0002t0001g0013 a0026c0027t0001g0116 |
2 | 438 | 0.0046 | 18 | c.-39 others(29): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3873 | chr1 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 388 | 0.0026 | 18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 388 | 0.0026 | 18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 388 | 0.0026 | 18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0138 a0001c0001t0002g0257 |
3 | 388 | 0.0077 | 18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119069629 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 388 | 0.0026 | 18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091595 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 388 | 0.0026 | 18 | c.292 others(33): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091595 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 a0001c0001t0003g0025 |
2 | 388 | 0.0052 | 18 | c.292 others(33): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119112788 | T | TAAAAATC others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(270): Show |
291 | 388 | 0.7500 | 18 | c.*65 others(29): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 4334 | chr8 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3592283 | C | CGGAGAGG others(11): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0197 | 1 | 378 | 0.0027 | 18 | c.-29 others(29): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2828 | chr2 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 312207 | G | GATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01261.hp2 HG01496.hp1 others(1): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0002 | a0001c0004t0005a0001c0004t0175a0002c0001t0141others(1): Show | a0001c0004t0005g0137 a0001c0004t0175g0095 a0002c0001t0141g0178 others(1): Show |
4 | 366 | 0.0109 | 18 | c.*78 others(29): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 4529 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 319331 | A | AATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0004 | a0004c0006 | a0004c0006t0107a0004c0006t0108 | a0004c0006t0107g0348 a0004c0006t0108g0347 |
2 | 366 | 0.0055 | 18 | c.*71 others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 713 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319335 | A | AATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | NA19088.hp1 | a0003 | a0003c0002 | a0003c0002t0118 | a0003c0002t0118g0103 | 1 | 366 | 0.0027 | 18 | c.*70 others(27): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 709 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 339535 | G | GCTGGATT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0002 | a0001c0004t0005a0001c0004t0024a0001c0004t0036others(14): Show | a0001c0004t0005g0014 a0001c0004t0005g0137 a0001c0004t0005g0223 others(21): Show |
24 | 366 | 0.0656 | 18 | c.132 others(37): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442002 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0002 | a0003c0002t0212 | a0003c0002t0212g0152 | 1 | 366 | 0.0027 | 18 | c.58+ others(35): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442002 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 NA21309.hp1 |
a0001a0002 | a0001c0005a0002c0001 | a0001c0005t0077a0002c0001t0136 | a0001c0005t0077g0304 a0002c0001t0136g0305 |
2 | 366 | 0.0055 | 18 | c.58+ others(35): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar |