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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134669289 | T | TCCCTC | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0017a0001c0051others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0017t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0007g0215 a0001c0017t0001g0214 others(2): Show |
5 | 272 | 0.0184 | 5 | c.110 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134784948 | G | GTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(32): Show |
a0001a0005a0013others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0033 a0001c0001t0001g0147 a0001c0001t0002g0082 others(32): Show |
35 | 272 | 0.1287 | 5 | c.248 others(20): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 29/65 | chr9 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134800749 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(69): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(42): Show | a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0079 others(68): Show |
72 | 272 | 0.2647 | 5 | c.295 others(24): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 37/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189059585 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01516.hp1 others(25): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(6): Show | a0001c0001t0001g0030 a0001c0001t0004g0081 a0001c0001t0004g0149 others(25): Show |
28 | 248 | 0.1129 | 5 | c.208 others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 31/53 | chr2 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189064273 | C | CAAGTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(214): Show |
221 | 248 | 0.8911 | 5 | c.171 others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 25/53 | chr2 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189089043 | A | ATGGAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp2 others(34): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0044 a0001c0001t0001g0133 a0001c0001t0003g0045 others(34): Show |
37 | 248 | 0.1492 | 5 | c.568 others(20): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 7/53 | chr2 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189121736 | C | CAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01106.hp2 others(43): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(10): Show | a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0044 others(43): Show |
46 | 248 | 0.1855 | 5 | c.98- others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | |||||||
COL5A2_chr2_189026898_189184761 | 189167944 | A | ATTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02293.hp1 NA18612.hp1 others(5): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0010t0007others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0050 a0001c0001t0001g0051 others(5): Show |
8 | 248 | 0.0323 | 5 | c.97+ others(22): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9955181 | T | TAAATA | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02717.hp2 others(4): Show |
a0004a0007a0054others(1): Show | a0004c0032a0007c0021a0054c0076others(1): Show | a0004c0032t0007a0007c0021t0007a0054c0076t0007others(1): Show | a0004c0032t0007g0114 a0007c0021t0007g0288 a0007c0021t0007g0289 others(4): Show |
7 | 412 | 0.0170 | 5 | c.*52 others(16): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 4379 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9964854 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01928.hp2 HG02074.hp2 others(3): Show |
a0001a0008 | a0001c0001a0001c0114a0008c0004 | a0001c0001t0001a0001c0114t0001a0008c0004t0001 | a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0329 others(3): Show |
6 | 412 | 0.0146 | 5 | c.478 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9977985 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01099.hp2 |
a0001a0004 | a0001c0001a0001c0003a0004c0022 | a0001c0001t0001a0001c0003t0001a0004c0022t0003 | a0001c0001t0001g0311 a0001c0003t0001g0256 a0004c0022t0003g0299 |
3 | 412 | 0.0073 | 5 | c.301 others(22): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9990392 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01069.hp2 others(51): Show |
a0001a0006a0007others(22): Show | a0001c0033a0001c0040a0001c0045others(29): Show | a0001c0033t0002a0001c0040t0005a0001c0045t0001others(31): Show | a0001c0033t0002g0153 a0001c0040t0005g0127 a0001c0045t0001g0140 others(51): Show |
54 | 412 | 0.1311 | 5 | c.199 others(22): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 24/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9999469 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(13): Show |
a0007a0014a0033others(1): Show | a0007c0021a0014c0008a0033c0137others(1): Show | a0007c0021t0007a0007c0021t0011a0014c0008t0001others(2): Show | a0007c0021t0007g0288 a0007c0021t0007g0289 a0007c0021t0007g0290 others(13): Show |
16 | 412 | 0.0388 | 5 | c.111 others(24): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 8/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981622 | G | GCCCCT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG03927.hp1 NA20805.hp1 |
a0002 | a0002c0001a0002c0008 | a0002c0001t0001a0002c0001t0008a0002c0008t0001 | a0002c0001t0001g0055 a0002c0001t0008g0051 a0002c0008t0001g0077 |
3 | 128 | 0.0234 | 5 | c.-22 others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 147 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981656 | T | TCCCGC | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03239.hp2 NA18945.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0003a0001c0003t0015a0001c0011t0005 | a0001c0003t0003g0034 a0001c0003t0015g0105 a0001c0011t0005g0074 |
3 | 128 | 0.0234 | 5 | c.-19 others(14): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 113 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45982165 | G | GCCGGA | intron_variant | MODIFIER | HG01255.hp2 HG01515.hp1 HG02145.hp1 others(3): Show |
a0002a0016a0019others(2): Show | a0002c0001a0016c0045a0019c0055others(2): Show | a0002c0001t0001a0002c0001t0008a0016c0045t0008others(3): Show | a0002c0001t0001g0119 a0002c0001t0008g0118 a0016c0045t0008g0117 others(3): Show |
6 | 128 | 0.0469 | 5 | c.97+ others(18): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46126476 | T | TGGCCC | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0001a0002a0007 | a0001c0006a0002c0003a0002c0042others(1): Show | a0001c0006t0008a0002c0003t0008a0002c0042t0008others(1): Show | a0001c0006t0008g0303 a0002c0003t0008g0221 a0002c0003t0008g0222 others(6): Show |
9 | 372 | 0.0242 | 5 | c.242 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134349 | G | GGGGTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009a0001c0021others(1): Show | a0001c0001t0001a0001c0009t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0009t0001g0106 others(3): Show |
6 | 372 | 0.0161 | 5 | c.*48 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4549 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134378 | G | GGGTCA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02965.hp1 others(2): Show |
a0001a0003a0010 | a0001c0024a0001c0031a0003c0004others(1): Show | a0001c0024t0006a0001c0031t0006a0003c0004t0004others(1): Show | a0001c0024t0006g0050 a0001c0031t0006g0049 a0003c0004t0004g0014 others(1): Show |
5 | 372 | 0.0134 | 5 | c.*48 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4578 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46126476 | T | TGGCCC | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
a0001a0002a0010 | a0001c0007a0002c0003a0002c0013others(3): Show | a0001c0007t0001a0002c0003t0001a0002c0013t0001others(3): Show | a0001c0007t0001g0302 a0002c0003t0001g0222 a0002c0003t0001g0223 others(6): Show |
9 | 364 | 0.0247 | 5 | c.242 others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134349 | G | GGGGTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0159 a0001c0006t0001g0167 a0001c0011t0001g0106 others(3): Show |
6 | 364 | 0.0165 | 5 | c.*17 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1502 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134378 | G | GGGTCA | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02965.hp1 others(2): Show |
a0001a0004a0013 | a0001c0037a0001c0048a0004c0005others(1): Show | a0001c0037t0001a0001c0048t0001a0004c0005t0004others(1): Show | a0001c0037t0001g0052 a0001c0048t0001g0051 a0004c0005t0004g0238 others(2): Show |
5 | 364 | 0.0137 | 5 | c.*18 others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1531 | chr21 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237397139 | A | AGAAGG | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01167.hp1 others(34): Show |
a0003a0009a0011others(19): Show | a0003c0039a0009c0127a0011c0034others(21): Show | a0003c0039t0001a0003c0039t0003a0009c0127t0004others(26): Show | a0003c0039t0001g0176 a0003c0039t0003g0163 a0009c0127t0004g0179 others(34): Show |
37 | 322 | 0.1149 | 5 | c.-30 others(20): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237415315 | A | AAGAAG | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03139.hp2 HG03492.hp1 others(1): Show |
a0002a0009a0015others(1): Show | a0002c0001a0009c0126a0015c0020others(1): Show | a0002c0001t0002a0009c0126t0004a0015c0020t0001others(1): Show | a0002c0001t0002g0312 a0009c0126t0004g0170 a0015c0020t0001g0307 others(1): Show |
4 | 322 | 0.0124 | 5 | c.-13 others(16): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1152 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237415362 | A | AAAAAG | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG02280.hp1 others(5): Show |
a0009a0011a0034others(2): Show | a0009c0041a0009c0126a0011c0034others(3): Show | a0009c0041t0002a0009c0126t0004a0011c0034t0005others(3): Show | a0009c0041t0002g0236 a0009c0041t0002g0303 a0009c0126t0004g0170 others(5): Show |
8 | 322 | 0.0248 | 5 | c.-14 others(16): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1199 | chr2 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130365269 | A | ATGTTT | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp2 HG02647.hp1 others(1): Show |
a0001a0034a0060others(1): Show | a0001c0014a0034c0032a0060c0072others(1): Show | a0001c0014t0002a0034c0032t0001a0060c0072t0001others(1): Show | a0001c0014t0002g0255 a0034c0032t0001g0181 a0060c0072t0001g0182 others(1): Show |
4 | 292 | 0.0137 | 5 | c.-28 others(22): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590297 | A | ATTTTT | intron_variant | MODIFIER | HG03239.hp1 HG03579.hp2 NA18983.hp1 |
a0002a0003 | a0002c0002a0003c0061 | a0002c0002t0002a0002c0002t0003a0003c0061t0015 | a0002c0002t0002g0074 a0002c0002t0003g0004 a0003c0061t0015g0196 |
3 | 264 | 0.0114 | 5 | c.421 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130636928 | T | TTCCTC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(55): Show |
a0001a0002a0003others(13): Show | a0001c0001a0002c0002a0003c0010others(25): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(41): Show | a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0095 others(55): Show |
58 | 264 | 0.2197 | 5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130639250 | A | ATCTTC | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
a0001a0002a0003others(23): Show | a0001c0001a0002c0002a0003c0010others(45): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(87): Show | a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0013 others(134): Show |
138 | 264 | 0.5227 | 5 | c.509 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130650753 | C | CTCTTA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0010a0003c0013others(43): Show | a0002c0002t0004a0003c0010t0004a0003c0013t0003others(73): Show | a0002c0002t0004g0202 a0003c0010t0004g0222 a0003c0013t0003g0262 others(90): Show |
95 | 264 | 0.3599 | 5 | c.573 others(24): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130680863 | A | ATAAAG | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02109.hp2 others(9): Show |
a0002a0003a0006others(5): Show | a0002c0002a0003c0022a0006c0007others(5): Show | a0002c0002t0004a0003c0022t0007a0006c0007t0003others(8): Show | a0002c0002t0004g0219 a0003c0022t0007g0211 a0006c0007t0003g0182 others(9): Show |
12 | 264 | 0.0455 | 5 | c.*54 others(16): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3822 | chr3 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36090679 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01361.hp1 others(23): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0005a0004c0010others(2): Show | a0001c0001t0001a0001c0001t0008a0003c0005t0001others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0001g0119 others(23): Show |
26 | 390 | 0.0667 | 5 | c.*68 others(16): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 4559 | chr1 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36100887 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp1 NA18747.hp1 others(6): Show |
a0001a0002 | a0001c0024a0002c0003 | a0001c0024t0010a0002c0003t0002a0002c0003t0010others(1): Show | a0001c0024t0010g0044 a0002c0003t0002g0030 a0002c0003t0002g0032 others(6): Show |
9 | 390 | 0.0231 | 5 | c.-16 others(20): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
COL8A2_chr1_36090239_36130222 | 36105966 | A | AGAGAG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(56): Show |
a0001a0003a0005others(3): Show | a0001c0002a0003c0009a0005c0008others(3): Show | a0001c0002t0002a0001c0002t0006a0003c0009t0002others(4): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0008 others(41): Show |
59 | 390 | 0.1513 | 5 | c.-16 others(22): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70234299 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(21): Show |
a0002a0003a0005others(2): Show | a0002c0004a0003c0003a0005c0005others(2): Show | a0002c0004t0001a0003c0003t0001a0003c0003t0004others(3): Show | a0002c0004t0001g0105 a0003c0003t0001g0226 a0003c0003t0001g0231 others(21): Show |
24 | 362 | 0.0663 | 5 | c.231 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 35/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321122 | A | AAAATT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(33): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0001a0004c0004others(3): Show | a0001c0002t0001a0002c0001t0001a0004c0004t0003others(3): Show | a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0037 others(16): Show |
36 | 438 | 0.0822 | 5 | c.-39 others(16): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3837 | chr1 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62839566 | C | CTCGCT | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01175.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0175 a0001c0001t0001g0176 others(27): Show |
34 | 412 | 0.0825 | 5 | c.186 others(22): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 31/31 | chr20 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62841194 | A | ACATCT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp2 others(70): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0003a0001c0002t0003a0001c0004t0003others(29): Show | a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0179 others(63): Show |
73 | 412 | 0.1772 | 5 | c.*46 others(14): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 36 | chr20 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069605 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0013a0004c0007t0001 | a0001c0001t0001g0012 a0001c0001t0001g0061 a0001c0001t0001g0062 others(13): Show |
17 | 388 | 0.0438 | 5 | c.148 others(22): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119077243 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01978.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0001g0261 others(17): Show |
21 | 388 | 0.0541 | 5 | c.148 others(22): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3625625 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp1 others(49): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0017 | a0001c0001t0001a0002c0002t0001a0008c0017t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(46): Show |
52 | 378 | 0.1376 | 5 | c.203 others(24): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319337 | A | ATATAT | 3_prime_UTR_variant | MODIFIER | NA18954.hp2 NA18979.hp2 NA18986.hp2 |
a0003 | a0003c0002 | a0003c0002t0032a0003c0002t0127 | a0003c0002t0032g0293 a0003c0002t0032g0300 a0003c0002t0127g0163 |
3 | 366 | 0.0082 | 5 | c.*70 others(14): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 707 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 325627 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01071.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(28): Show | a0001c0003t0001g0302 a0001c0003t0002g0111 a0001c0003t0004g0071 others(31): Show |
34 | 366 | 0.0929 | 5 | c.206 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 338984 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01496.hp1 others(19): Show |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0019a0003c0002t0012a0003c0002t0031others(18): Show | a0002c0001t0019g0008 a0003c0002t0012g0264 a0003c0002t0031g0023 others(19): Show |
22 | 366 | 0.0601 | 5 | c.132 others(24): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 367925 | C | CCAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02602.hp1 HG04184.hp2 |
a0001a0002 | a0001c0004a0001c0008a0002c0001 | a0001c0004t0005a0001c0008t0017a0002c0001t0037 | a0001c0004t0005g0223 a0001c0008t0017g0262 a0002c0001t0037g0081 |
3 | 366 | 0.0082 | 5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 380495 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(299): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0004a0001c0005others(24): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(236): Show | a0001c0003t0001g0302 a0001c0003t0002g0111 a0001c0003t0002g0124 others(297): Show |
302 | 366 | 0.8251 | 5 | c.59- others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 419148 | C | CTTCTA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0002a0001c0003t0007a0001c0003t0012others(39): Show | a0001c0003t0002g0180 a0001c0003t0007g0222 a0001c0003t0012g0284 others(43): Show |
47 | 366 | 0.1284 | 5 | c.58+ others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 445635 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0006others(71): Show | a0001c0003t0003g0197 a0001c0003t0003g0352 a0001c0003t0004g0056 others(77): Show |
81 | 366 | 0.2213 | 5 | c.58+ others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 503828 | C | CGGGGG | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(21): Show | a0001c0003t0001g0302 a0001c0003t0004g0294 a0001c0003t0006g0277 others(24): Show |
27 | 366 | 0.0738 | 5 | c.-33 others(16): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 3128 | chr18 | TogoVar | |||||||
COLGALT1_chr19_17550649_17588157 | 17569891 | C | CCTTTT | intron_variant | MODIFIER | HG01123.hp2 HG02257.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018 | a0001c0001t0006g0011 a0001c0001t0006g0100 a0001c0001t0006g0126 others(2): Show |
8 | 396 | 0.0202 | 5 | c.829 others(22): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 5/11 | chr19 | TogoVar |