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 | 76522666 | CCTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01192.hp2 others(1): Show |
a0002 | a0002c0002a0002c0005a0002c0011 | a0002c0002t0002a0002c0005t0002a0002c0011t0005 | a0002c0002t0002g0102a0002c0005t0002g0187a0002c0005t0002g0188others(1): Show | 4 | 274 | 0.0146 | -3 | c.275 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522675 | TCTC | T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01243.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0003a0001c0001t0012a0003c0003t0003others(2): Show | a0001c0001t0003g0032a0001c0001t0003g0184a0001c0001t0003g0223others(9): Show | 12 | 274 | 0.0438 | -3 | c.275 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522693 | TTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01981.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0014 | a0001c0001t0003a0002c0002t0002a0002c0002t0024others(1): Show | a0001c0001t0003g0126a0001c0001t0003g0127a0001c0001t0003g0197others(3): Show | 6 | 274 | 0.0219 | -3 | c.275 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522708 | TTTC | T | intron_variant | MODIFIER | HG01346.hp1 HG02615.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0028a0001c0001t0006g0052a0001c0001t0006g0161 | 3 | 274 | 0.0110 | -3 | c.275 others(20): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124082348 | CAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0013g0041a0001c0002t0001g0046others(4): Show | 7 | 64 | 0.1094 | -3 | c.82+ others(20): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124212829 | CTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0003g0006others(9): Show | 12 | 64 | 0.1875 | -3 | c.83- others(18): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124215712 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0033a0001c0001t0001g0043others(7): Show | 10 | 64 | 0.1563 | -3 | c.83- others(18): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124222367 | ATGT | A | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0033a0001c0002t0002g0031a0001c0002t0008g0058others(1): Show | 4 | 64 | 0.0625 | -3 | c.187 others(18): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124243330 | GTGT | G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0001g0033a0001c0002t0002g0031a0001c0002t0008g0058others(1): Show | 4 | 64 | 0.0625 | -3 | c.381 others(18): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124271698 | TATC | T | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0046a0001c0002t0004g0044a0001c0002t0004g0047others(1): Show | 4 | 64 | 0.0625 | -3 | c.381 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124286755 | TCTC | T | intron_variant | MODIFIER | HG03130.hp1 NA19240.hp2 |
a0001a0006 | a0001c0002a0006c0003 | a0001c0002t0001a0006c0003t0008 | a0001c0002t0001g0064a0006c0003t0008g0035 | 2 | 64 | 0.0313 | -3 | c.381 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124292677 | AAGG | A | intron_variant | MODIFIER | HG02886.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062a0001c0002t0001g0063 | 2 | 64 | 0.0313 | -3 | c.381 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124297810 | TTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0002g0019others(9): Show | 12 | 64 | 0.1875 | -3 | c.381 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124353286 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01261.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0002g0022others(21): Show | 24 | 64 | 0.3750 | -3 | c.382 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124385984 | GACA | G | intron_variant | MODIFIER | HG01069.hp2 HG02698.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015 | a0001c0001t0001g0020a0001c0001t0006g0025a0001c0001t0015g0036 | 3 | 64 | 0.0469 | -3 | c.382 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124389992 | CAAT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp1 others(17): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0043a0001c0001t0002g0019others(17): Show | 20 | 64 | 0.3125 | -3 | c.382 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124401745 | TAGA | T | intron_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0013a0002c0004t0001 | a0001c0001t0013g0041a0002c0004t0001g0001 | 2 | 64 | 0.0313 | -3 | c.382 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124476806 | CGTT | C | intron_variant | MODIFIER | HG02145.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0033a0001c0001t0009g0061 | 2 | 64 | 0.0313 | -3 | c.106 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124553503 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG02293.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0002g0019a0001c0001t0002g0024a0001c0001t0003g0057others(6): Show | 9 | 64 | 0.1406 | -3 | c.165 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124578156 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG02257.hp1 others(9): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0026a0001c0001t0002g0019a0001c0001t0002g0024others(9): Show | 12 | 64 | 0.1875 | -3 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124598539 | CTCT | C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01261.hp1 others(21): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0026others(21): Show | 24 | 64 | 0.3750 | -3 | c.175 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124602338 | CAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01070.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(19): Show | 22 | 64 | 0.3438 | -3 | c.175 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124605831 | AAAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(5): Show | a0001c0001t0001g0043a0001c0001t0002g0042a0001c0001t0002g0048others(9): Show | 12 | 64 | 0.1875 | -3 | c.175 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124606959 | AAAC | A | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp2 HG03471.hp2 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0001c0002t0012a0003c0007t0001 | a0001c0002t0001g0063a0001c0002t0012g0018a0003c0007t0001g0017 | 3 | 64 | 0.0469 | -3 | c.175 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124660943 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02145.hp1 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0033a0001c0001t0002g0019others(16): Show | 19 | 64 | 0.2969 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124687601 | ACTT | A | intron_variant | MODIFIER | HG00423.hp2 HG02145.hp1 HG02145.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0033others(17): Show | 20 | 64 | 0.3125 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707018 | GAGA | G | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01070.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0026a0001c0001t0002g0019a0001c0001t0002g0027others(8): Show | 11 | 64 | 0.1719 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707039 | AAGG | A | intron_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0001g0033a0001c0001t0007g0039a0001c0001t0009g0061others(1): Show | 4 | 64 | 0.0625 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707085 | GGAA | G | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0003c0007t0001 | a0001c0002t0002g0031a0003c0007t0001g0017 | 2 | 64 | 0.0313 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713315 | TTTC | T | intron_variant | MODIFIER | HG02698.hp1 HG03225.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0019 | a0001c0001t0001g0043a0001c0001t0002g0027a0001c0002t0019g0051 | 3 | 64 | 0.0469 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124713318 | CCTT | C | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp1 HG01891.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0017a0005c0005t0001 | a0001c0001t0002g0049a0001c0001t0017g0012a0005c0005t0001g0008 | 3 | 64 | 0.0469 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124713323 | CTTT | C | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0014a0001c0002t0001a0002c0004t0001 | a0001c0001t0014g0037a0001c0002t0001g0003a0002c0004t0001g0001 | 3 | 64 | 0.0469 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124717975 | AAAC | A | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0011a0001c0001t0003g0006a0001c0001t0003g0057others(3): Show | 6 | 64 | 0.0938 | -3 | c.207 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124759938 | CTTT | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0002g0022a0001c0001t0002g0023others(12): Show | 15 | 64 | 0.2344 | -3 | c.223 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124771718 | TCAC | T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01891.hp1 others(11): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0026others(11): Show | 14 | 64 | 0.2188 | -3 | c.253 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124871070 | GTCC | G | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02257.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0033a0001c0001t0002g0022a0001c0001t0002g0023others(10): Show | 13 | 64 | 0.2031 | -3 | c.343 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121073511 | CTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0016a0001c0001t0001g0017others(58): Show | 63 | 330 | 0.1909 | -3 | c.-17 others(14): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 1443 | chr9 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121080225 | AGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(105): Show |
a0002a0005a0006others(5): Show | a0002c0002a0002c0006a0002c0023others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0006others(100): Show | 108 | 330 | 0.3273 | -3 | c.-20 others(18): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121092464 | TATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00738.hp2 others(10): Show |
a0003a0018a0019 | a0003c0004a0003c0019a0018c0017others(1): Show | a0003c0004t0002a0003c0019t0002a0018c0017t0002others(1): Show | a0003c0004t0002g0009a0003c0004t0002g0125a0003c0004t0002g0128others(9): Show | 13 | 330 | 0.0394 | -3 | c.348 others(20): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121099693 | ACAG | A | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218a0001c0001t0001g0220a0001c0001t0001g0221 | 3 | 330 | 0.0091 | -3 | c.808 others(20): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTROB_chr17_7927206_7954920 | 7942596 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(212): Show |
a0001a0008a0009others(2): Show | a0001c0001a0001c0012a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(95): Show | 215 | 402 | 0.5348 | -3 | c.131 others(20): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CNTROB_chr17_7927206_7954920 | 7949542 | CATT | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02165.hp2 others(5): Show |
a0001a0008a0015 | a0001c0001a0008c0009a0015c0015 | a0001c0001t0006a0008c0009t0006a0015c0015t0006 | a0001c0001t0006g0026a0001c0001t0006g0046a0001c0001t0006g0157others(3): Show | 8 | 402 | 0.0199 | -3 | c.*33 others(10): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 19/19 | 33 | chr17 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43647475 | TGGA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0358others(19): Show | 24 | 384 | 0.0625 | -3 | c.115 others(16): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43665072 | TAGG | T | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009 | 3 | 384 | 0.0078 | -3 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43677192 | ACTC | A | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(11): Show | 14 | 384 | 0.0365 | -3 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43677800 | TAAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01074.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163others(61): Show | 64 | 384 | 0.1667 | -3 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43679264 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(47): Show | 52 | 384 | 0.1354 | -3 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43683760 | CTAT | C | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0249 | 3 | 384 | 0.0078 | -3 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691270 | AAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0026others(40): Show | 44 | 384 | 0.1146 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691274 | AAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0370a0001c0001t0001g0371others(1): Show | 5 | 384 | 0.0130 | -3 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar |