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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148328976 | GAAAAAAA | G | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0012a0001c0002t0001a0001c0008t0001others(2): Show | a0001c0001t0012g0034 a0001c0002t0001g0007 a0001c0002t0001g0021 others(3): Show |
6 | 10 | 0.6000 | -7 | c.347 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148369181 | CTTTTTTT | C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA20129.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0003a0001c0006t0009 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0006t0009g0028 |
3 | 5 | 0.6000 | -7 | c.347 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148405603 | ATTTTTTT | A | intron_variant | MODIFIER | HG03139.hp2 HG03239.hp1 HG03239.hp2 |
a0001a0005 | a0001c0002a0001c0011a0005c0007 | a0001c0002t0002a0001c0011t0016a0005c0007t0017 | a0001c0002t0002g0040 a0001c0011t0016g0019 a0005c0007t0017g0031 |
3 | 6 | 0.5000 | -7 | c.371 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148413402 | ATATATAT | A | intron_variant | MODIFIER | HG02451.hp2 HG03239.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0017 | a0001c0001t0002g0006 a0005c0007t0017g0031 |
2 | 26 | 0.0769 | -7 | c.379 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | chr7 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41904311 | GTTTTTTT | G | intron_variant | MODIFIER | HG00642.hp1 HG01934.hp2 HG01952.hp1 others(14): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0010a0002c0023others(6): Show | a0002c0002t0001a0002c0002t0012a0002c0002t0022others(11): Show | a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0051 others(14): Show |
17 | 18 | 0.9444 | -7 | c.344 others(26): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42037276 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(37): Show |
a0001a0006a0007others(7): Show | a0001c0001a0001c0012a0001c0042others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(18): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(37): Show |
40 | 106 | 0.3774 | -7 | c.391 others(26): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76302819 | TCACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01074.hp2 others(33): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0185 others(33): Show |
36 | 272 | 0.1324 | -7 | c.86- others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76502229 | GAAGGACT | G | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0010a0006c0009t0001 | a0001c0001t0010g0240 a0006c0009t0001g0258 |
2 | 272 | 0.0074 | -7 | c.236 others(26): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124086188 | CTTTTTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG01891.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 others(7): Show |
10 | 26 | 0.3846 | -7 | c.82+ others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124157174 | GGTTGCAC | G | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01261.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(4): Show | a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 others(6): Show |
9 | 62 | 0.1452 | -7 | c.83- others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124425635 | GTTCTATT | G | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01070.hp2 others(10): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0002g0019 others(10): Show |
13 | 62 | 0.2097 | -7 | c.529 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124515539 | AATCATTC | A | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01261.hp2 others(17): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0033 others(17): Show |
20 | 62 | 0.3226 | -7 | c.132 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124653400 | GATAGTAT | G | intron_variant | MODIFIER | HG02897.hp2 HG03098.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0011 | a0001c0001t0002g0024 a0001c0002t0001g0007 a0001c0002t0011g0029 |
3 | 62 | 0.0484 | -7 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124739885 | CACTCTGA | C | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 HG02293.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(4): Show | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0020g0014 others(7): Show |
10 | 62 | 0.1613 | -7 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43638566 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(147): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(144): Show |
150 | 329 | 0.4559 | -7 | c.*10 others(18): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 690 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43676553 | TAAGTAAA | T | intron_variant | MODIFIER | NA18951.hp2 NA18955.hp2 NA18980.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 others(4): Show |
7 | 382 | 0.0183 | -7 | c.-38 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0089 a0001c0001t0001g0150 others(3): Show |
6 | 254 | 0.0236 | -7 | c.-39 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691282 | AAAGAAAG | A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 |
3 | 381 | 0.0079 | -7 | c.-39 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691419 | GAAAAAGA | G | intron_variant | MODIFIER | HG02074.hp2 NA18943.hp2 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0172 others(1): Show |
4 | 317 | 0.0126 | -7 | c.-39 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAAAAAA | T | intron_variant | MODIFIER | HG01516.hp1 HG01928.hp2 HG02015.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0164 others(11): Show |
15 | 104 | 0.1442 | -7 | c.-39 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801511 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
15 | 282 | 0.0532 | -7 | c.-28 others(18): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801537 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG03831.hp1 NA18977.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 305 | 0.0098 | -7 | c.-28 others(18): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2834 | chr17 | TogoVar | |||||||
COA7_chr1_52679449_52703347 | 52694738 | TAAAAATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0073 others(47): Show |
76 | 416 | 0.1827 | -7 | c.107 others(24): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
COA8_chr14_103557960_103595896 | 103563516 | AAGCGGCG | A | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show |
4 | 380 | 0.0105 | -7 | c.123 others(22): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51173174 | AGTTTTTT | A | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02886.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0008others(7): Show | a0001c0003t0002a0001c0005t0008a0001c0008t0002others(9): Show | a0001c0003t0002g0225 a0001c0005t0008g0166 a0001c0008t0002g0162 others(9): Show |
12 | 228 | 0.0526 | -7 | c.783 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | GTTTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00673.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0136 a0001c0001t0001g0211 others(9): Show |
13 | 128 | 0.1016 | -7 | c.629 others(24): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486289 | TCGGGAGA | T | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01256.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0005a0002c0004t0001a0002c0004t0010others(2): Show | a0001c0001t0005g0060 a0001c0001t0005g0061 a0002c0004t0001g0019 others(7): Show |
10 | 252 | 0.0397 | -7 | c.844 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45489186 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01243.hp1 others(7): Show |
a0002 | a0002c0003a0002c0005a0002c0016 | a0002c0003t0002a0002c0005t0003a0002c0016t0003 | a0002c0003t0002g0179 a0002c0005t0003g0004 a0002c0005t0003g0010 others(6): Show |
10 | 116 | 0.0862 | -7 | c.925 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45497812 | CAACAACA | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01243.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0005a0002c0016 | a0001c0002t0001a0002c0005t0003a0002c0016t0003 | a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0005t0003g0004 others(7): Show |
11 | 340 | 0.0324 | -7 | c.148 others(26): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG01515.hp2 HG02602.hp1 others(16): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0010 | a0001c0001t0001a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0048 a0001c0001t0001g0066 others(5): Show |
19 | 203 | 0.0936 | -7 | c.158 others(24): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar | |||||||
COIL_chr17_56933199_56966050 | 56951749 | GCCGAGCT | G | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0159 others(1): Show |
6 | 416 | 0.0144 | -7 | c.246 others(22): Show |
COIL | ENSG00000121058.5 | transcript | ENST00000240316.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102976289 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02257.hp2 others(18): Show |
a0001a0004a0005 | a0001c0002a0001c0008a0001c0009others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(6): Show | a0001c0002t0001g0069 a0001c0002t0003g0068 a0001c0002t0011g0091 others(18): Show |
21 | 31 | 0.6774 | -7 | c.275 others(26): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 35/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103022155 | CGGCCATT | C | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0002a0001c0006a0001c0017others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(3): Show | a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0003g0048 others(7): Show |
10 | 167 | 0.0599 | -7 | c.124 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103024882 | ATTGTATG | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(4): Show | a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(12): Show |
15 | 182 | 0.0824 | -7 | c.990 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 7/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103081684 | ACTTGTTT | A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 |
a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0023 a0007c0018t0001g0082 |
2 | 182 | 0.0110 | -7 | c.274 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 2/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75106879 | TTTTTTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0019others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0018 others(107): Show |
112 | 204 | 0.5490 | -7 | c.810 others(24): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 52/65 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69946781 | TTTTTTTG | T | intron_variant | MODIFIER | NA18969.hp2 NA18977.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0002a0001c0004t0002 | a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0137 others(2): Show |
5 | 322 | 0.0155 | -7 | c.202 others(24): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 37/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166915 | TGTGTGTG | T | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0019a0002c0002t0001 | a0001c0003t0019g0057 a0002c0002t0001g0209 |
2 | 216 | 0.0093 | -7 | c.350 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120243683 | TGATTATA | T | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01192.hp1 others(40): Show |
a0001a0004 | a0001c0003a0001c0007a0001c0013others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(13): Show | a0001c0003t0001g0029 a0001c0003t0001g0036 a0001c0003t0001g0043 others(40): Show |
43 | 216 | 0.1991 | -7 | c.235 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 19/47 | chr8 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120334385 | TCAAAATA | T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01070.hp1 others(134): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0015 others(134): Show |
137 | 216 | 0.6343 | -7 | c.478 others(26): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120361508 | ACTAGGTG | A | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0065 a0001c0003t0001g0043 a0001c0005t0001g0203 |
3 | 216 | 0.0139 | -7 | c.507 others(26): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98945528 | CCAAAGGA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(79): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0013a0002c0002others(29): Show | a0001c0001t0002a0001c0001t0003a0001c0013t0001others(32): Show | a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0253 others(79): Show |
82 | 308 | 0.2662 | -7 | c.100 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99060241 | TATATATA | T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp1 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0031a0002c0010a0003c0006others(7): Show | a0001c0031t0001a0002c0010t0001a0003c0006t0001others(7): Show | a0001c0031t0001g0205 a0002c0010t0001g0170 a0003c0006t0001g0072 others(21): Show |
24 | 303 | 0.0792 | -7 | c.340 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99060245 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03486.hp2 others(5): Show |
a0006a0014a0016others(2): Show | a0006c0007a0006c0078a0014c0016others(3): Show | a0006c0007t0001a0006c0078t0001a0014c0016t0001others(3): Show | a0006c0007t0001g0216 a0006c0078t0001g0231 a0014c0016t0001g0086 others(5): Show |
8 | 307 | 0.0261 | -7 | c.340 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99066599 | GTTTTTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(39): Show |
a0002a0003a0004others(9): Show | a0002c0010a0003c0006a0004c0005others(12): Show | a0002c0010t0001a0003c0006t0001a0004c0005t0001others(12): Show | a0002c0010t0001g0008 a0002c0010t0001g0107 a0002c0010t0001g0125 others(39): Show |
42 | 145 | 0.2897 | -7 | c.365 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31648130 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001a0002a0007others(1): Show | a0001c0003a0001c0005a0001c0016others(4): Show | a0001c0003t0001a0001c0005t0001a0001c0016t0003others(4): Show | a0001c0003t0001g0290 a0001c0005t0001g0008 a0001c0005t0001g0100 others(18): Show |
22 | 171 | 0.1287 | -7 | c.*45 others(18): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 4132 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45423483 | GCCCGCCC | G | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG03130.hp2 others(2): Show |
a0001a0020 | a0001c0001a0020c0093 | a0001c0001t0001a0020c0093t0015 | a0001c0001t0001g0107 a0001c0001t0001g0136 a0001c0001t0001g0137 others(2): Show |
5 | 290 | 0.0172 | -7 | c.106 others(26): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45476132 | CGGTCCTG | C | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG02258.hp2 others(29): Show |
a0001a0003a0007others(7): Show | a0001c0009a0001c0010a0001c0015others(16): Show | a0001c0009t0001a0001c0010t0002a0001c0010t0006others(17): Show | a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 others(29): Show |
32 | 290 | 0.1103 | -7 | c.799 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500999 | TGTGTTGG | T | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 NA20129.hp1 |
a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0042 a0001c0019t0003g0119 a0001c0019t0003g0150 |
3 | 288 | 0.0104 | -7 | c.268 others(26): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69896543 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01884.hp2 HG02074.hp1 others(6): Show |
a0002 | a0002c0003a0002c0006a0002c0009 | a0002c0003t0002a0002c0003t0020a0002c0003t0031others(3): Show | a0002c0003t0002g0018 a0002c0003t0002g0175 a0002c0003t0020g0071 others(6): Show |
9 | 29 | 0.3103 | -7 | c.92- others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |