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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124739907 | AGCTGTG | A | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 HG02293.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0043 a0001c0001t0002g0022 a0001c0001t0002g0023 others(8): Show |
11 | 64 | 0.1719 | -6 | c.207 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124773909 | CGTGTGT | C | intron_variant | MODIFIER | HG02293.hp2 HG02886.hp1 HG03130.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0043 a0001c0001t0002g0048 a0001c0001t0003g0006 others(4): Show |
7 | 64 | 0.1094 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124773943 | TGTGTGA | T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG02698.hp2 others(3): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0003a0004c0006t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0026 others(3): Show |
6 | 64 | 0.0938 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124773945 | TGTGAGA | T | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0059 a0001c0002t0002g0031 |
2 | 64 | 0.0313 | -6 | c.275 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124856075 | GGTGTGT | G | intron_variant | MODIFIER | HG01891.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0017a0001c0002t0016others(1): Show | a0001c0001t0004g0053 a0001c0001t0017g0012 a0001c0002t0016g0055 others(1): Show |
4 | 64 | 0.0625 | -6 | c.321 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124864573 | TCACACA | T | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0007g0039 a0001c0002t0001g0064 a0001c0002t0002g0060 others(2): Show |
5 | 64 | 0.0781 | -6 | c.321 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124872374 | CTGTGTG | C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0003 | a0001c0001t0003g0006 a0001c0001t0009g0061 a0001c0002t0003g0004 others(1): Show |
4 | 64 | 0.0625 | -6 | c.343 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124885549 | TCACACA | T | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0026 others(10): Show |
13 | 64 | 0.2031 | -6 | 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 | 124897936 | AGTGTGT | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01891.hp2 others(19): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 others(19): Show |
22 | 64 | 0.3438 | -6 | c.343 others(25): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124903845 | GGAGTTC | G | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0003 | a0001c0001t0018a0001c0002t0008a0001c0002t0016others(1): Show | a0001c0001t0018g0021 a0001c0002t0008g0058 a0001c0002t0016g0055 others(1): Show |
4 | 64 | 0.0625 | -6 | c.365 others(23): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTROB_chr17_7927206_7954920 | 7932530 | GGGAGCT | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0012a0001c0014others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(218): Show |
401 | 402 | 0.9975 | -6 | c.-54 others(15): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 1/19 | 537 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43638566 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01433.hp1 HG03942.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0086 others(6): Show |
9 | 384 | 0.0234 | -6 | c.*10 others(17): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 690 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43639219 | AAGGAAG | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01070.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(69): Show |
72 | 384 | 0.1875 | -6 | c.*35 others(15): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 37 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691342 | AGGGAGG | A | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0145 a0001c0001t0001g0147 others(1): Show |
4 | 384 | 0.0104 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691406 | AGGAAGG | A | intron_variant | MODIFIER | HG00544.hp1 HG02976.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0118 others(1): Show |
4 | 384 | 0.0104 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43709434 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0074 others(6): Show |
9 | 384 | 0.0234 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAAAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00741.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(77): Show |
80 | 384 | 0.2083 | -6 | c.-39 others(25): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801508 | AAAATAT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01192.hp1 HG02273.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 310 | 0.0323 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2805 | chr17 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801510 | AATATAT | A | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02083.hp2 HG02622.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
15 | 310 | 0.0484 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2807 | chr17 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801543 | ATATAAT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0005g0008 a0001c0001t0007g0010 |
46 | 310 | 0.1484 | -6 | c.-28 others(17): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2840 | chr17 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377059 | CGAGAGA | C | intron_variant | MODIFIER | NA18983.hp1 NA19004.hp2 NA19086.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0015 a0001c0001t0009g0015 |
4 | 406 | 0.0099 | -6 | c.372 others(23): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103568621 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0003t0001g0001 a0001c0003t0001g0004 a0001c0003t0001g0005 others(69): Show |
88 | 382 | 0.2304 | -6 | c.124 others(23): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164683005 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG03710.hp1 NA18939.hp2 others(1): Show |
a0001a0005a0015 | a0001c0001a0005c0020a0005c0029others(1): Show | a0001c0001t0033a0005c0020t0031a0005c0029t0016others(1): Show | a0001c0001t0033g0052 a0005c0020t0031g0060 a0005c0029t0016g0203 others(1): Show |
4 | 212 | 0.0189 | -6 | c.*29 others(17): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 14/14 | 2935 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164711630 | ATTATAG | A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0033others(3): Show | a0001c0001t0056a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0056g0032 a0001c0002t0001g0044 a0001c0002t0001g0170 others(17): Show |
20 | 212 | 0.0943 | -6 | c.997 others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 7/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164725129 | TATATAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01361.hp2 others(16): Show |
a0001a0002a0019 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0011a0001c0001t0018a0001c0010t0048others(4): Show | a0001c0001t0011g0195 a0001c0001t0011g0196 a0001c0001t0018g0167 others(15): Show |
19 | 212 | 0.0896 | -6 | c.662 others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164777331 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp2 others(33): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0024others(5): Show | a0001c0001t0027a0001c0001t0029a0001c0002t0001others(17): Show | a0001c0001t0027g0188 a0001c0001t0029g0179 a0001c0002t0001g0044 others(33): Show |
36 | 212 | 0.1698 | -6 | c.42- others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164789020 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG02004.hp1 NA19056.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0040a0001c0015t0052 | a0001c0001t0001g0084 a0001c0001t0040g0082 a0001c0015t0052g0081 |
3 | 212 | 0.0142 | -6 | c.42- others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164801438 | CAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0018a0001c0001t0029a0001c0001t0044others(13): Show | a0001c0001t0018g0167 a0001c0001t0029g0179 a0001c0001t0044g0173 others(18): Show |
21 | 212 | 0.0991 | -6 | c.41+ others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164822734 | ATATTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp1 others(32): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0043 others(32): Show |
35 | 212 | 0.1651 | -6 | c.41+ others(23): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018265 | GTGGTGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0002c0003others(18): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(20): Show | a0001c0002t0001g0136 a0001c0004t0001g0119 a0001c0004t0001g0193 others(62): Show |
65 | 230 | 0.2826 | -6 | c.376 others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51058554 | AAACAAC | A | intron_variant | MODIFIER | HG02622.hp2 HG03579.hp2 NA20129.hp2 |
a0001a0003a0029 | a0001c0015a0003c0031a0029c0042 | a0001c0015t0014a0003c0031t0001a0029c0042t0001 | a0001c0015t0014g0013 a0003c0031t0001g0066 a0029c0042t0001g0166 |
3 | 230 | 0.0130 | -6 | c.109 others(27): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51108952 | ACACACC | A | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(6): Show |
a0001a0003a0010others(3): Show | a0001c0004a0001c0015a0003c0001others(5): Show | a0001c0004t0001a0001c0015t0001a0003c0001t0001others(5): Show | a0001c0004t0001g0010 a0001c0015t0001g0181 a0003c0001t0001g0025 others(6): Show |
9 | 230 | 0.0391 | -6 | c.958 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51133185 | ATCCTGT | A | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp2 HG03098.hp2 others(1): Show |
a0004a0005a0006 | a0004c0010a0005c0005a0006c0008 | a0004c0010t0005a0004c0010t0012a0005c0005t0008others(1): Show | a0004c0010t0005g0164 a0004c0010t0012g0115 a0005c0005t0008g0167 others(1): Show |
4 | 230 | 0.0174 | -6 | c.957 others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51156698 | TCACACA | T | intron_variant | MODIFIER | HG01109.hp2 HG02896.hp1 HG03041.hp2 others(3): Show |
a0003a0006a0012others(1): Show | a0003c0001a0003c0011a0006c0032others(2): Show | a0003c0001t0001a0003c0011t0001a0006c0032t0004others(2): Show | a0003c0001t0001g0018 a0003c0011t0001g0068 a0006c0032t0004g0065 others(3): Show |
6 | 230 | 0.0261 | -6 | c.784 others(25): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51272948 | CCAACAA | C | intron_variant | MODIFIER | HG02055.hp1 HG03453.hp2 HG03579.hp1 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0015a0002c0003a0005c0006others(1): Show | a0001c0015t0001a0002c0003t0001a0005c0006t0002others(2): Show | a0001c0015t0001g0181 a0002c0003t0001g0008 a0005c0006t0002g0040 others(3): Show |
6 | 230 | 0.0261 | -6 | c.41+ others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51294325 | TAAATAA | T | intron_variant | MODIFIER | HG01934.hp2 HG02004.hp2 HG02145.hp2 others(1): Show |
a0002a0004 | a0002c0007a0004c0037 | a0002c0007t0001a0004c0037t0001 | a0002c0007t0001g0176 a0002c0007t0001g0177 a0002c0007t0001g0179 others(1): Show |
4 | 230 | 0.0174 | -6 | c.41+ others(23): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45474151 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01256.hp2 HG02735.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0004 | a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 others(3): Show |
6 | 342 | 0.0175 | -6 | c.175 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45489186 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(74): Show |
a0002a0004 | a0002c0003a0002c0004a0002c0005others(2): Show | a0002c0003t0002a0002c0004t0001a0002c0004t0010others(4): Show | a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 others(67): Show |
77 | 342 | 0.2252 | -6 | c.925 others(23): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45500023 | AAAATAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01361.hp2 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0208 a0002c0003t0002g0210 a0002c0003t0002g0213 others(11): Show |
14 | 342 | 0.0409 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45500061 | TGTGTGA | T | intron_variant | MODIFIER | HG01975.hp1 HG02572.hp1 HG02615.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0003a0002c0005t0013 | a0002c0005t0003g0151 a0002c0005t0003g0152 a0002c0005t0003g0153 others(1): Show |
4 | 342 | 0.0117 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45500094 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01978.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0082 a0001c0002t0001g0205 a0001c0002t0001g0288 others(12): Show |
17 | 342 | 0.0497 | -6 | c.148 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45508421 | CACACAT | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0013a0002c0003a0002c0005 | a0001c0013t0004a0002c0003t0002a0002c0005t0003others(1): Show | a0001c0013t0004g0194 a0002c0003t0002g0144 a0002c0003t0002g0207 others(3): Show |
6 | 342 | 0.0175 | -6 | c.159 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45526076 | ATTTTTT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(25): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0002a0002c0007t0002 | a0002c0003t0002g0007 a0002c0003t0002g0202 a0002c0003t0002g0208 others(24): Show |
28 | 342 | 0.0819 | -6 | c.223 others(25): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70482468 | TTCTAAG | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0125 a0001c0003t0001g0014 a0001c0003t0001g0015 others(8): Show |
11 | 354 | 0.0311 | -6 | c.192 others(23): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 15/18 | chr16 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70504609 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(150): Show |
154 | 354 | 0.4350 | -6 | c.106 others(25): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | ATTTTTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG01358.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0020 a0002c0002t0002g0248 a0002c0002t0002g0249 others(9): Show |
12 | 370 | 0.0324 | -6 | c.788 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39694955 | GCACACA | G | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0138 others(11): Show |
14 | 370 | 0.0378 | -6 | c.116 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39719994 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(117): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(110): Show |
120 | 370 | 0.3243 | -6 | c.158 others(23): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23435656 | TTAGAAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00741.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0003a0002c0002t0003others(3): Show | a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0023 others(47): Show |
53 | 272 | 0.1949 | -6 | c.605 others(21): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 4/16 | chr16 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp1 others(49): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0028a0001c0002t0003others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0050 others(27): Show |
52 | 360 | 0.1444 | -6 | c.158 others(23): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar |