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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COBLL1_chr2_164675188_164846823 | 164803582 | TAAATA | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01109.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0027others(16): Show | a0001c0001t0005g0193a0001c0001t0005g0194a0001c0001t0011g0195others(30): Show | 33 | 212 | 0.1557 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164807801 | CTTTAT | C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01261.hp1 others(8): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0032others(1): Show | a0001c0001t0018a0001c0001t0044a0001c0002t0002others(6): Show | a0001c0001t0018g0167a0001c0001t0018g0168a0001c0001t0044g0173others(8): Show | 11 | 212 | 0.0519 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164845654 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0002a0001c0002t0013a0001c0010t0048others(3): Show | a0001c0001t0002g0074a0001c0002t0013g0182a0001c0010t0048g0185others(9): Show | 12 | 212 | 0.0566 | -5 | c.-40 others(16): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 3832 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATAT | A | intron_variant | MODIFIER | HG02056.hp1 NA18522.hp1 |
a0002a0016 | a0002c0007a0016c0022 | a0002c0007t0001a0016c0022t0001 | a0002c0007t0001g0178a0016c0022t0001g0126 | 2 | 230 | 0.0087 | -5 | c.376 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51060899 | ATAGAC | A | intron_variant | MODIFIER | NA18983.hp1 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142a0001c0002t0002g0191 | 2 | 230 | 0.0087 | -5 | c.109 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51070781 | CTAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(2): Show |
a0003a0004 | a0003c0001a0003c0011a0004c0009 | a0003c0001t0001a0003c0011t0001a0004c0009t0001 | a0003c0001t0001g0025a0003c0001t0001g0113a0003c0001t0001g0210others(2): Show | 5 | 230 | 0.0217 | -5 | c.109 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51117201 | ATTTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0015others(38): Show | a0001c0002t0002a0001c0004t0001a0001c0015t0001others(54): Show | a0001c0002t0002g0027a0001c0002t0002g0122a0001c0004t0001g0119others(103): Show | 106 | 230 | 0.4609 | -5 | c.957 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51237318 | GAGTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(88): Show |
a0001a0002a0003others(16): Show | a0001c0002a0001c0004a0001c0015others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(34): Show | a0001c0002t0001g0136a0001c0002t0001g0158a0001c0002t0002g0019others(88): Show | 91 | 230 | 0.3957 | -5 | c.42- others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51288781 | TTTAGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(33): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0015others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(14): Show | a0001c0002t0001g0158a0001c0002t0002g0130a0001c0002t0002g0131others(33): Show | 36 | 230 | 0.1565 | -5 | c.41+ others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51300140 | CTGTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(105): Show |
a0001a0002a0003others(22): Show | a0001c0002a0001c0004a0001c0015others(36): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(48): Show | a0001c0002t0001g0136a0001c0002t0001g0158a0001c0002t0002g0130others(105): Show | 108 | 230 | 0.4696 | -5 | c.41+ others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30890501 | GGTAAA | G | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085a0001c0001t0004g0111a0001c0001t0004g0155others(2): Show | 5 | 478 | 0.0105 | -5 | c.*71 others(14): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 12/12 | 714 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
COG1_chr17_73188055_73213507 | 73207092 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(224): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0007others(88): Show | 227 | 428 | 0.5304 | -5 | c.273 others(20): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45474151 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0041others(205): Show | 212 | 342 | 0.6199 | -5 | c.175 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70503595 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0040others(157): Show | 161 | 354 | 0.4548 | -5 | c.106 others(24): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39674315 | TCTTTA | T | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170a0001c0001t0004g0171a0001c0001t0004g0172 | 3 | 370 | 0.0081 | -5 | c.429 others(22): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39735721 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(128): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(6): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(127): Show | 131 | 370 | 0.3541 | -5 | c.182 others(24): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23449380 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(72): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(64): Show | 75 | 272 | 0.2757 | -5 | c.170 others(22): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0003c0004t0003 | a0001c0002t0003g0128a0001c0002t0004g0027a0001c0002t0004g0121others(2): Show | 8 | 360 | 0.0222 | -5 | c.158 others(22): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
COIL_chr17_56933199_56966050 | 56938261 | TAAATG | T | 3_prime_UTR_variant | MODIFIER | HG02129.hp2 NA18984.hp1 NA19060.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038a0001c0001t0005g0113a0001c0001t0005g0124others(1): Show | 5 | 418 | 0.0120 | -5 | c.*80 others(14): Show |
COIL | ENSG00000121058.5 | transcript | ENST00000240316.5 | protein_coding | 7/7 | 805 | chr17 | TogoVar | |||||
COL10A1_chr6_116113909_116131132 | 116114531 | GGGGGA | G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01255.hp2 others(20): Show |
a0002a0005a0011 | a0002c0002a0005c0006a0011c0011 | a0002c0002t0001a0005c0006t0012a0011c0011t0001 | a0002c0002t0001g0004a0002c0002t0001g0027a0005c0006t0012g0020others(1): Show | 23 | 422 | 0.0545 | -5 | c.*55 others(16): Show |
COL10A1 | ENSG00000123500.10 | transcript | ENST00000651968.1 | protein_coding | 4377 | chr6 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102889871 | CTATAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02280.hp2 others(4): Show |
a0005a0006 | a0005c0010a0006c0017 | a0005c0010t0001a0006c0017t0001 | a0005c0010t0001g0028a0005c0010t0001g0029a0005c0010t0001g0052others(4): Show | 7 | 184 | 0.0380 | -5 | c.435 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 58/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102903813 | AGTGAC | A | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG03130.hp1 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0010a0001c0016t0001a0001c0016t0004 | a0001c0006t0010g0180a0001c0016t0001g0050a0001c0016t0004g0058 | 3 | 184 | 0.0163 | -5 | c.408 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 54/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102918600 | CAAACA | C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(3): Show |
a0001a0010 | a0001c0008a0010c0028 | a0001c0008t0006a0010c0028t0006 | a0001c0008t0006g0002a0001c0008t0006g0003a0001c0008t0006g0004others(3): Show | 6 | 184 | 0.0326 | -5 | c.376 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 49/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102954401 | TAAATG | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02451.hp1 others(1): Show |
a0006 | a0006c0017a0006c0039 | a0006c0017t0001a0006c0039t0003 | a0006c0017t0001g0024a0006c0017t0001g0025a0006c0017t0001g0026others(1): Show | 4 | 184 | 0.0217 | -5 | c.316 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102967227 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02451.hp2 others(7): Show |
a0001a0004a0005others(2): Show | a0001c0002a0001c0006a0004c0012others(3): Show | a0001c0002t0001a0001c0002t0008a0001c0006t0001others(4): Show | a0001c0002t0001g0095a0001c0002t0008g0027a0001c0006t0001g0017others(7): Show | 10 | 184 | 0.0544 | -5 | c.286 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102976289 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01071.hp1 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0005others(16): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(23): Show | a0001c0002t0001g0095a0001c0002t0003g0022a0001c0002t0003g0066others(46): Show | 49 | 184 | 0.2663 | -5 | c.275 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 35/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103006526 | ATTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0005a0002c0024a0003c0023others(6): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(7): Show | a0001c0005t0005g0071a0001c0005t0005g0072a0001c0005t0005g0074others(15): Show | 18 | 184 | 0.0978 | -5 | c.168 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103052147 | TCTCTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(67): Show |
a0001a0002a0003others(7): Show | a0001c0006a0001c0016a0002c0001others(12): Show | a0001c0006t0010a0001c0016t0001a0002c0001t0001others(14): Show | a0001c0006t0010g0180a0001c0016t0001g0102a0002c0001t0001g0116others(67): Show | 70 | 184 | 0.3804 | -5 | c.652 others(24): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103071467 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG02027.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0005a0002c0024t0002a0003c0023t0002others(3): Show | a0001c0005t0005g0061a0001c0005t0005g0070a0001c0005t0005g0071others(11): Show | 14 | 184 | 0.0761 | -5 | c.651 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103082606 | TTTTCA | T | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(5): Show |
a0001a0003a0010 | a0001c0005a0001c0008a0003c0026others(1): Show | a0001c0005t0004a0001c0008t0006a0003c0026t0002others(1): Show | a0001c0005t0004g0015a0001c0008t0006g0002a0001c0008t0006g0003others(5): Show | 8 | 184 | 0.0435 | -5 | c.274 others(20): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 2/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103086071 | CATATA | C | intron_variant | MODIFIER | HG00323.hp2 HG01517.hp2 HG01978.hp1 others(9): Show |
a0001a0003a0019 | a0001c0004a0001c0006a0001c0031others(2): Show | a0001c0004t0004a0001c0006t0001a0001c0006t0010others(3): Show | a0001c0004t0004g0170a0001c0004t0004g0171a0001c0004t0004g0173others(9): Show | 12 | 184 | 0.0652 | -5 | c.107 others(22): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 1/66 | chr1 | TogoVar | ||||||
COL11A2_chr6_33157694_33197467 | 33186094 | CTCCCT | C | intron_variant | MODIFIER | HG03017.hp1 HG03490.hp1 HG03492.hp2 |
a0001a0015 | a0001c0014a0015c0016 | a0001c0014t0001a0015c0016t0001 | a0001c0014t0001g0049a0015c0016t0001g0145 | 3 | 367 | 0.0082 | -5 | c.799 others(20): Show |
COL11A2 | ENSG00000204248.12 | transcript | ENST00000341947.7 | protein_coding | 5/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75099621 | AATTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02559.hp1 others(10): Show |
a0005a0006a0009others(2): Show | a0005c0008a0005c0013a0005c0016others(5): Show | a0005c0008t0006a0005c0013t0006a0005c0016t0006others(5): Show | a0005c0008t0006g0036a0005c0008t0006g0128a0005c0008t0006g0158others(10): Show | 13 | 206 | 0.0631 | -5 | c.852 others(24): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 58/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208177 | TGTGTG | T | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02559.hp1 |
a0002a0003a0006 | a0002c0006a0003c0003a0006c0026 | a0002c0006t0002a0003c0003t0001a0006c0026t0006 | a0002c0006t0002g0175a0003c0003t0001g0188a0006c0026t0006g0168 | 3 | 206 | 0.0146 | -5 | c.-24 others(16): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2125 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69812304 | TCAAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp1 others(38): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0073a0001c0001t0001g0149a0001c0001t0001g0151others(38): Show | 41 | 324 | 0.1265 | -5 | c.294 others(22): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69845744 | GACCTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01069.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0043others(55): Show | 58 | 324 | 0.1790 | -5 | c.365 others(24): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69849510 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0192a0001c0001t0002g0193a0001c0002t0001g0273 | 3 | 324 | 0.0093 | -5 | c.365 others(24): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69936173 | GAAGGA | G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0203a0001c0002t0001g0164others(3): Show | 6 | 324 | 0.0185 | -5 | c.177 others(22): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120167345 | CATGAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(61): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0036others(61): Show | 64 | 218 | 0.2936 | -5 | c.350 others(20): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120229089 | TTTTTA | T | intron_variant | MODIFIER | HG02293.hp1 HG03490.hp2 HG04204.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0003c0004t0001 | a0001c0001t0002g0100a0001c0001t0003g0027a0003c0004t0001g0116 | 3 | 218 | 0.0138 | -5 | c.219 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120248917 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01109.hp1 others(9): Show |
a0001a0008a0009others(1): Show | a0001c0001a0001c0040a0008c0028others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0040t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0036others(9): Show | 12 | 218 | 0.0551 | -5 | c.260 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120315369 | TAAAAA | T | intron_variant | MODIFIER | HG01517.hp2 HG01943.hp1 HG02027.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0016others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0016t0003others(1): Show | a0001c0001t0001g0037a0002c0002t0001g0008a0002c0002t0001g0049others(2): Show | 5 | 218 | 0.0229 | -5 | c.455 others(22): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 38/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120331107 | CAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02486.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0007a0002c0006others(2): Show | a0001c0003t0002a0001c0007t0001a0001c0007t0002others(5): Show | a0001c0003t0002g0084a0001c0007t0001g0083a0001c0007t0001g0216others(7): Show | 10 | 218 | 0.0459 | -5 | c.466 others(24): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99002141 | TTCCTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(153): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0013a0002c0002others(45): Show | a0001c0001t0002a0001c0013t0001a0002c0002t0001others(54): Show | a0001c0001t0002g0059a0001c0001t0002g0070a0001c0001t0002g0113others(153): Show | 156 | 310 | 0.5032 | -5 | c.106 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 7/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99018640 | TAATTG | T | intron_variant | MODIFIER | HG00544.hp2 HG02074.hp2 NA18960.hp2 |
a0018 | a0018c0023 | a0018c0023t0002 | a0018c0023t0002g0248a0018c0023t0002g0266a0018c0023t0002g0267 | 3 | 310 | 0.0097 | -5 | c.164 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 11/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99048519 | ATTTTG | A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01074.hp1 others(48): Show |
a0001a0002a0003others(13): Show | a0001c0013a0002c0002a0002c0069others(14): Show | a0001c0013t0001a0002c0002t0001a0002c0069t0010others(14): Show | a0001c0013t0001g0015a0001c0013t0001g0046a0001c0013t0001g0064others(48): Show | 51 | 310 | 0.1645 | -5 | c.279 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99060241 | TATATA | T | intron_variant | MODIFIER | HG01261.hp1 HG03704.hp1 NA18747.hp2 others(2): Show |
a0004a0013a0026 | a0004c0005a0013c0017a0026c0054 | a0004c0005t0001a0013c0017t0001a0026c0054t0001 | a0004c0005t0001g0017a0004c0005t0001g0101a0004c0005t0001g0121others(2): Show | 5 | 310 | 0.0161 | -5 | c.340 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99060247 | TATATA | T | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01256.hp1 others(13): Show |
a0001a0002a0003others(8): Show | a0001c0031a0002c0002a0002c0010others(10): Show | a0001c0031t0001a0002c0002t0001a0002c0010t0001others(10): Show | a0001c0031t0001g0157a0002c0002t0001g0302a0002c0010t0001g0161others(13): Show | 16 | 310 | 0.0516 | -5 | c.340 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | chr9 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104077699 | TTTTTG | T | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01884.hp1 others(16): Show |
a0002a0006a0010others(2): Show | a0002c0002a0002c0010a0002c0023others(8): Show | a0002c0002t0002a0002c0010t0001a0002c0023t0004others(10): Show | a0002c0002t0002g0291a0002c0002t0002g0292a0002c0002t0002g0293others(16): Show | 19 | 336 | 0.0566 | -5 | c.98- others(18): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 3/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45468825 | CTGGGA | C | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp1 others(9): Show |
a0001a0004a0008others(2): Show | a0001c0022a0001c0038a0001c0098others(5): Show | a0001c0022t0001a0001c0038t0004a0001c0098t0001others(5): Show | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(9): Show | 12 | 292 | 0.0411 | -5 | c.651 others(18): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |