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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124872409 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02897.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0007a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0001t0007g0039a0001c0002t0002g0060a0001c0002t0007g0009others(1): Show | 4 | 64 | 0.0625 | -8 | c.343 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124885549 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG02451.hp1 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0002t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0018g0021others(14): Show | 17 | 64 | 0.2656 | -8 | c.343 others(29): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124897936 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02698.hp1 HG02723.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0007 | a0001c0001t0002g0027a0001c0001t0007g0039a0001c0002t0007g0009 | 3 | 64 | 0.0469 | -8 | c.343 others(27): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43638565 | CCTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0358others(17): Show | 22 | 384 | 0.0573 | -8 | c.*10 others(19): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 691 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644755 | TAGATAGG others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0196others(7): Show | 10 | 384 | 0.0260 | -8 | c.264 others(23): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644759 | TAGGCAGG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01928.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0062a0001c0001t0001g0094others(15): Show | 18 | 384 | 0.0469 | -8 | c.264 others(23): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43651689 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0057a0001c0001t0001g0161a0001c0001t0001g0162others(83): Show | 86 | 384 | 0.2240 | -8 | c.-38 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691265 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01123.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0248a0001c0001t0001g0249a0001c0001t0001g0253others(7): Show | 10 | 384 | 0.0260 | -8 | c.-39 others(27): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691340 | AGAGGGAG others(1): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02004.hp2 HG02074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0046a0001c0001t0001g0047others(9): Show | 12 | 384 | 0.0313 | -8 | c.-39 others(27): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691421 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0042others(18): Show | 22 | 384 | 0.0573 | -8 | c.-39 others(27): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801541 | ATATATAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 29 | 310 | 0.0936 | -8 | c.-28 others(19): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2838 | chr17 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234370412 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG02300.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0059others(3): Show | 6 | 406 | 0.0148 | -8 | c.-30 others(19): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234383036 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0047a0002c0002t0001g0163 | 3 | 406 | 0.0074 | -8 | c.373 others(23): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COA8_chr14_103557960_103595896 | 103568621 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0004 | a0001c0003t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0003t0001g0030a0002c0002t0001g0003a0002c0002t0001g0006others(85): Show | 101 | 382 | 0.2644 | -8 | c.124 others(25): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164725127 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0014a0001c0001t0017a0001c0001t0038others(1): Show | a0001c0001t0014g0019a0001c0001t0017g0206a0001c0001t0017g0208others(2): Show | 5 | 212 | 0.0236 | -8 | c.662 others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164789020 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01074.hp2 others(25): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0001g0087others(25): Show | 28 | 212 | 0.1321 | -8 | c.42- others(25): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51024653 | GTGAATGA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp2 others(34): Show |
a0001a0003a0004others(11): Show | a0001c0002a0003c0001a0003c0011others(19): Show | a0001c0002t0002a0003c0001t0005a0003c0011t0001others(22): Show | a0001c0002t0002g0224a0003c0001t0005g0043a0003c0001t0005g0044others(34): Show | 37 | 230 | 0.1609 | -8 | c.376 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51056812 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02922.hp1 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0004a0003c0001a0004c0025others(2): Show | a0001c0004t0007a0003c0001t0005a0004c0025t0002others(2): Show | a0001c0004t0007g0016a0003c0001t0005g0043a0003c0001t0005g0044others(5): Show | 8 | 230 | 0.0348 | -8 | c.109 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51061950 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01070.hp1 others(4): Show |
a0001a0003a0008others(3): Show | a0001c0004a0003c0001a0008c0013others(3): Show | a0001c0004t0001a0003c0001t0001a0008c0013t0003others(3): Show | a0001c0004t0001g0119a0003c0001t0001g0029a0003c0001t0001g0218others(4): Show | 7 | 230 | 0.0304 | -8 | c.109 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51108950 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02818.hp2 HG02886.hp1 |
a0006a0012a0014 | a0006c0008a0012c0024a0014c0023 | a0006c0008t0004a0012c0024t0001a0014c0023t0002 | a0006c0008t0004g0108a0012c0024t0001g0042a0014c0023t0002g0212 | 3 | 230 | 0.0130 | -8 | c.958 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51177775 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(127): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0004a0002c0003others(28): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(40): Show | a0001c0002t0001g0136a0001c0002t0001g0158a0001c0002t0002g0019others(127): Show | 130 | 230 | 0.5652 | -8 | c.783 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51187327 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02886.hp2 others(3): Show |
a0004a0005a0006others(2): Show | a0004c0010a0005c0005a0006c0008others(2): Show | a0004c0010t0005a0004c0010t0012a0005c0005t0008others(3): Show | a0004c0010t0005g0164a0004c0010t0012g0115a0005c0005t0008g0167others(3): Show | 6 | 230 | 0.0261 | -8 | c.686 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51214272 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 HG03516.hp1 others(1): Show |
a0001a0010 | a0001c0002a0001c0004a0010c0034 | a0001c0002t0002a0001c0004t0006a0001c0004t0007others(1): Show | a0001c0002t0002g0191a0001c0004t0006g0109a0001c0004t0007g0045others(1): Show | 4 | 230 | 0.0174 | -8 | c.245 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51294295 | CATAAATA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02615.hp2 others(12): Show |
a0001a0002a0003others(7): Show | a0001c0004a0002c0049a0003c0001others(9): Show | a0001c0004t0007a0002c0049t0001a0003c0001t0005others(9): Show | a0001c0004t0007g0016a0002c0049t0001g0046a0003c0001t0005g0043others(12): Show | 15 | 230 | 0.0652 | -8 | c.41+ others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30882120 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(60): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0033others(48): Show | 63 | 478 | 0.1318 | -8 | c.629 others(25): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COG1_chr17_73188055_73213507 | 73205163 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02145.hp2 others(12): Show |
a0001a0009 | a0001c0002a0001c0004a0009c0013 | a0001c0002t0001a0001c0004t0001a0009c0013t0001 | a0001c0002t0001g0155a0001c0004t0001g0023a0001c0004t0001g0024others(8): Show | 15 | 428 | 0.0351 | -8 | c.238 others(25): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45484577 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(213): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0040a0001c0001t0001g0041others(210): Show | 216 | 342 | 0.6316 | -8 | c.843 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45486297 | CGGGAGAC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG01496.hp2 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0202a0002c0003t0002g0208a0002c0003t0002g0209others(14): Show | 17 | 342 | 0.0497 | -8 | c.844 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45486325 | CGGGAGAC others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp1 HG04204.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0264a0001c0002t0001g0268a0001c0014t0001g0261 | 3 | 342 | 0.0088 | -8 | c.844 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45500034 | ATATGTAT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00609.hp1 others(22): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0144a0002c0003t0002g0160a0002c0003t0002g0161others(22): Show | 25 | 342 | 0.0731 | -8 | c.148 others(27): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45500094 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp2 others(25): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0006 | a0001c0002t0001a0001c0002t0009a0002c0003t0002others(2): Show | a0001c0002t0001g0244a0001c0002t0001g0254a0001c0002t0001g0264others(25): Show | 28 | 342 | 0.0819 | -8 | c.148 others(27): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45508419 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp2 others(36): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0002a0002c0005t0003 | a0002c0003t0002g0005a0002c0003t0002g0006a0002c0003t0002g0160others(33): Show | 39 | 342 | 0.1140 | -8 | c.159 others(27): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70502280 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02280.hp2 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0001a0001c0002t0002g0006a0001c0002t0002g0007others(23): Show | 27 | 354 | 0.0763 | -8 | c.106 others(27): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506610 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0006a0001c0002t0002g0007others(12): Show | 16 | 354 | 0.0452 | -8 | c.106 others(27): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG03041.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0005others(1): Show | a0001c0001t0001g0033a0001c0001t0008g0082a0001c0002t0005g0123others(1): Show | 6 | 360 | 0.0167 | -8 | c.158 others(25): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102878475 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02647.hp1 others(3): Show |
a0001a0004a0005 | a0001c0002a0004c0014a0005c0010 | a0001c0002t0011a0004c0014t0001a0005c0010t0001 | a0001c0002t0011g0091a0004c0014t0001g0013a0005c0010t0001g0028others(3): Show | 6 | 184 | 0.0326 | -8 | c.527 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102943452 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0003a0001c0008t0006g0004a0001c0008t0006g0006 | 3 | 184 | 0.0163 | -8 | c.327 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102945247 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp1 HG02976.hp2 others(4): Show |
a0001a0004a0009 | a0001c0002a0001c0004a0004c0021others(1): Show | a0001c0002t0003a0001c0004t0004a0001c0004t0005others(2): Show | a0001c0002t0003g0048a0001c0002t0003g0068a0001c0004t0004g0040others(4): Show | 7 | 184 | 0.0380 | -8 | c.327 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102967227 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01433.hp2 others(8): Show |
a0002a0017 | a0002c0001a0002c0033a0017c0038 | a0002c0001t0001a0002c0001t0002a0002c0033t0013others(1): Show | a0002c0001t0001g0100a0002c0001t0001g0110a0002c0001t0002g0097others(8): Show | 11 | 184 | 0.0598 | -8 | c.286 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103006178 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG01884.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0008a0001c0009a0002c0001others(4): Show | a0001c0008t0006a0001c0009t0001a0001c0009t0007others(5): Show | a0001c0008t0006g0002a0001c0008t0006g0003a0001c0008t0006g0004others(16): Show | 19 | 184 | 0.1033 | -8 | c.173 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 16/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103027396 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02145.hp1 HG02280.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0002c0001t0001 | a0001c0002t0003g0021a0001c0002t0003g0022a0002c0001t0001g0131others(1): Show | 4 | 184 | 0.0217 | -8 | c.781 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103036322 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02145.hp1 others(16): Show |
a0001a0003a0006 | a0001c0002a0001c0016a0003c0011others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0016t0001others(3): Show | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(16): Show | 19 | 184 | 0.1033 | -8 | c.652 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103037252 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02055.hp2 others(25): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0008a0001c0009others(4): Show | a0001c0002t0002a0001c0002t0003a0001c0008t0006others(5): Show | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(25): Show | 28 | 184 | 0.1522 | -8 | c.652 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103043382 | GCCTGGGC others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01099.hp2 HG01243.hp1 others(24): Show |
a0001a0002a0008others(1): Show | a0001c0002a0002c0001a0002c0033others(2): Show | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(4): Show | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(24): Show | 27 | 184 | 0.1467 | -8 | c.652 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103071869 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02145.hp1 others(6): Show |
a0001a0008 | a0001c0002a0008c0018 | a0001c0002t0002a0001c0002t0003a0008c0018t0001 | a0001c0002t0002g0155a0001c0002t0003g0019a0001c0002t0003g0020others(6): Show | 9 | 184 | 0.0489 | -8 | c.651 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103111808 | TATAGATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01517.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0031others(5): Show | a0001c0004t0004a0001c0006t0010a0001c0031t0001others(5): Show | a0001c0004t0004g0170a0001c0004t0004g0171a0001c0004t0004g0173others(13): Show | 16 | 184 | 0.0870 | -8 | c.-36 others(19): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 3287 | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75106891 | TTCTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG02293.hp2 HG02451.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0054a0001c0001t0001g0062a0001c0001t0001g0092others(8): Show | 12 | 206 | 0.0583 | -8 | c.810 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 52/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208168 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01261.hp2 HG02602.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0003c0003t0001a0003c0003t0004others(1): Show | a0002c0002t0001g0191a0003c0003t0001g0182a0003c0003t0004g0001others(2): Show | 5 | 206 | 0.0243 | -8 | c.-24 others(19): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69877697 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 NA19030.hp1 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0004a0001c0002t0008a0002c0008t0001 | a0001c0002t0004g0297a0001c0002t0008g0319a0002c0008t0001g0148 | 3 | 324 | 0.0093 | -8 | c.436 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69877699 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0058a0001c0001t0001g0086a0001c0001t0001g0122others(21): Show | 24 | 324 | 0.0741 | -8 | c.436 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |