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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP4_chr16_76272401_76565757 | 76302819 | TCACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01074.hp2 others(34): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0015others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0185others(34): Show | 37 | 274 | 0.1350 | -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 | a0001c0001t0010g0240a0006c0009t0001g0258 | 2 | 274 | 0.0073 | -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(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0042a0001c0001t0002g0048others(8): Show | 11 | 64 | 0.1719 | -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(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0042a0001c0001t0002g0048others(7): Show | 10 | 64 | 0.1563 | -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 |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020a0001c0001t0001g0033a0001c0001t0002g0019others(10): Show | 13 | 64 | 0.2031 | -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 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0033others(17): Show | 20 | 64 | 0.3125 | -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 | a0001c0001t0002g0024a0001c0002t0001g0007a0001c0002t0011g0029 | 3 | 64 | 0.0469 | -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(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0022a0001c0001t0002g0023others(8): Show | 11 | 64 | 0.1719 | -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 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(145): Show | 150 | 384 | 0.3906 | -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 | a0001c0001t0001g0206a0001c0001t0001g0214a0001c0001t0001g0215others(4): Show | 7 | 384 | 0.0182 | -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 | a0001c0001t0001g0037a0001c0001t0001g0095a0001c0001t0001g0150others(3): Show | 6 | 384 | 0.0156 | -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 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013 | 3 | 384 | 0.0078 | -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 | a0001c0001t0001g0161a0001c0001t0001g0169a0001c0001t0001g0174others(1): Show | 4 | 384 | 0.0104 | -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 | a0001c0001t0001g0010a0001c0001t0001g0164a0001c0001t0001g0165others(12): Show | 15 | 384 | 0.0391 | -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 | a0001c0001t0001g0001a0001c0001t0002g0002 | 15 | 310 | 0.0484 | -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 | 310 | 0.0097 | -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 | a0001c0001t0001g0018a0001c0001t0001g0037a0001c0001t0001g0074others(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 | a0001c0001t0001g0181a0001c0001t0001g0182a0001c0001t0001g0183others(1): Show | 4 | 382 | 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(6): Show | a0001c0002a0001c0004a0002c0003others(7): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0003others(9): Show | a0001c0002t0002g0224a0001c0004t0001g0225a0001c0004t0003g0227others(9): Show | 12 | 230 | 0.0522 | -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 | a0001c0001t0001g0099a0001c0001t0001g0189a0001c0001t0001g0249others(10): Show | 13 | 478 | 0.0272 | -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 | a0001c0001t0005g0060a0001c0001t0005g0061a0002c0004t0001g0018others(7): Show | 10 | 342 | 0.0292 | -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 | a0002c0003t0002g0168a0002c0005t0003g0004a0002c0005t0003g0010others(6): Show | 10 | 342 | 0.0292 | -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 | a0001c0002t0001g0229a0001c0002t0001g0230a0002c0005t0003g0004others(7): Show | 11 | 342 | 0.0322 | -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 |
a0001a0006 | a0001c0001a0001c0002a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0005others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0054a0001c0001t0002g0074others(5): Show | 19 | 360 | 0.0528 | -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 | a0001c0001t0001g0043a0001c0001t0001g0053a0001c0001t0001g0164others(1): Show | 6 | 418 | 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 |
a0001a0004a0005others(1): Show | a0001c0002a0001c0008a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(7): Show | a0001c0002t0001g0069a0001c0002t0003g0068a0001c0002t0011g0091others(18): Show | 21 | 184 | 0.1141 | -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 | a0001c0002a0001c0006a0001c0016others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0008others(3): Show | a0001c0002t0001g0069a0001c0002t0001g0095a0001c0002t0003g0048others(7): Show | 10 | 184 | 0.0544 | -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 | a0001c0005t0005g0061a0001c0005t0005g0070a0001c0005t0005g0071others(12): Show | 15 | 184 | 0.0815 | -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 |
a0008 | a0008c0018 | a0008c0018t0001 | a0008c0018t0001g0023a0008c0018t0001g0082 | 2 | 184 | 0.0109 | -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(110): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0019others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0018others(108): Show | 113 | 206 | 0.5485 | -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 | a0001c0001t0002g0037a0001c0001t0002g0041a0001c0001t0002g0137others(2): Show | 5 | 324 | 0.0154 | -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 | a0001c0003t0019g0076a0002c0002t0001g0207 | 2 | 218 | 0.0092 | -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 | a0001c0003t0001g0035a0001c0003t0001g0050a0001c0003t0001g0057others(40): Show | 43 | 218 | 0.1973 | -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(135): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(135): Show | 138 | 218 | 0.6330 | -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 | a0001c0001t0001g0086a0001c0003t0001g0064a0001c0005t0001g0203 | 3 | 218 | 0.0138 | -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 | a0001c0001t0002g0249a0001c0001t0002g0251a0001c0001t0002g0253others(79): Show | 82 | 310 | 0.2645 | -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 | a0001c0031t0001g0205a0002c0010t0001g0170a0003c0006t0001g0072others(21): Show | 24 | 310 | 0.0774 | -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 |
a0006a0011a0016others(2): Show | a0006c0007a0006c0078a0011c0016others(3): Show | a0006c0007t0001a0006c0078t0001a0011c0016t0001others(3): Show | a0006c0007t0001g0216a0006c0078t0001g0231a0011c0016t0001g0086others(5): Show | 8 | 310 | 0.0258 | -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 | a0002c0010t0001g0008a0002c0010t0001g0107a0002c0010t0001g0125others(39): Show | 42 | 310 | 0.1355 | -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 | a0001c0003t0001g0290a0001c0005t0001g0008a0001c0005t0001g0100others(18): Show | 22 | 342 | 0.0643 | -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 |
a0001a0019 | a0001c0001a0019c0096 | a0001c0001t0001a0019c0096t0015 | a0001c0001t0001g0025a0001c0001t0001g0127a0001c0001t0001g0149others(2): Show | 5 | 292 | 0.0171 | -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 |
a0001a0003a0004others(8): Show | a0001c0022a0001c0038a0001c0098others(16): Show | a0001c0022t0001a0001c0038t0004a0001c0098t0001others(17): Show | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(29): Show | 32 | 292 | 0.1096 | -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 | a0001c0019t0003g0065a0001c0019t0003g0139a0001c0019t0003g0170 | 3 | 292 | 0.0103 | -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 | a0002c0003t0002g0018a0002c0003t0002g0175a0002c0003t0020g0071others(6): Show | 9 | 182 | 0.0495 | -7 | c.92- others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921270 | TATATATC | T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0020a0002c0004t0001a0002c0006t0003others(1): Show | a0002c0003t0020g0071a0002c0004t0001g0068a0002c0006t0003g0065others(2): Show | 5 | 182 | 0.0275 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921388 | TATATATC | T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(29): Show |
a0002a0005 | a0002c0003a0002c0004a0002c0006others(3): Show | a0002c0003t0002a0002c0003t0012a0002c0003t0021others(13): Show | a0002c0003t0002g0018a0002c0003t0002g0020a0002c0003t0002g0026others(29): Show | 32 | 182 | 0.1758 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921438 | TATATATC | T | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02723.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0012a0002c0003t0018a0002c0004t0001others(3): Show | a0002c0003t0012g0010a0002c0003t0018g0014a0002c0004t0001g0008others(4): Show | 7 | 182 | 0.0385 | -7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69972677 | TATATAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(177): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(64): Show | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0053others(177): Show | 180 | 182 | 0.9890 | -7 | c.102 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A1_chr17_50179101_50206631 | 50199698 | AGCCCCAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(203): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0016others(137): Show | 206 | 448 | 0.4598 | -7 | c.298 others(20): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 2/50 | chr17 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56116396 | TAAAAAAA | T | intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01515.hp2 others(2): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0006a0006c0011others(1): Show | a0001c0002t0002a0003c0006t0007a0006c0011t0004others(1): Show | a0001c0002t0002g0197a0003c0006t0007g0204a0006c0011t0004g0090others(2): Show | 5 | 264 | 0.0189 | -7 | c.175 others(26): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar |