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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KHDRBS2_chr6_61674961_62291225 | 61901451 | ACAAAACG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0016others(88): Show | 91 | 244 | 0.3730 | -7 | c.484 others(20): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61930539 | AAAAAAAG | A | intron_variant | MODIFIER | HG01257.hp2 HG01928.hp2 HG02055.hp1 others(3): Show |
a0001a0005 | a0001c0002a0001c0004a0005c0013 | a0001c0002t0003a0001c0002t0004a0001c0004t0005others(1): Show | a0001c0002t0003g0139a0001c0002t0003g0143a0001c0002t0004g0179others(3): Show | 6 | 244 | 0.0246 | -7 | c.484 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 61974392 | TTATAGAA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01074.hp1 others(28): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0001t0002g0064a0001c0001t0002g0066a0001c0001t0002g0088others(28): Show | 31 | 244 | 0.1271 | -7 | c.483 others(24): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 62194480 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0002t0004a0001c0004t0001others(3): Show | a0001c0001t0006g0183a0001c0002t0004g0179a0001c0002t0004g0193others(9): Show | 12 | 244 | 0.0492 | -7 | c.92- others(24): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
KHDRBS2_chr6_61674961_62291225 | 62237977 | TGCAGTGA | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp1 others(20): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0010 | a0001c0001t0006a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0006g0183a0001c0001t0006g0184a0001c0001t0006g0217others(20): Show | 23 | 244 | 0.0943 | -7 | c.91+ others(24): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135480127 | AAACACCC | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(183): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(181): Show | 186 | 342 | 0.5439 | -7 | c.88+ others(24): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135482371 | GAAATGGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(285): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(283): Show | 288 | 342 | 0.8421 | -7 | c.88+ others(24): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | TAAAAAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01261.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0142a0001c0001t0001g0154others(15): Show | 18 | 342 | 0.0526 | -7 | c.89- others(22): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHDRBS3_chr8_135452456_135652610 | 135536992 | AAAAAAGG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0027others(87): Show | 91 | 342 | 0.2661 | -7 | c.208 others(24): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429157 | TATATATA | T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0044a0001c0001t0070 | a0001c0001t0021g0022a0001c0001t0044g0139a0001c0001t0070g0140 | 5 | 386 | 0.0130 | -7 | c.-44 others(18): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4347 | chr19 | TogoVar | ||||||
KIAA0040_chr1_175151986_175197776 | 175152062 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(47): Show | 89 | 394 | 0.2259 | -7 | c.*86 others(18): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 4923 | chr1 | TogoVar | ||||||
KIAA0040_chr1_175151986_175197776 | 175156937 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0012a0001c0001t0034a0001c0001t0065others(6): Show | a0001c0001t0012g0021a0001c0001t0012g0204a0001c0001t0034g0232others(10): Show | 15 | 394 | 0.0381 | -7 | c.*37 others(18): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 48 | chr1 | TogoVar | ||||||
KIAA0232_chr4_6777727_6889164 | 6790392 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0194a0001c0001t0001g0250a0001c0001t0001g0251others(104): Show | 107 | 362 | 0.2956 | -7 | c.-35 others(26): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KIAA0232_chr4_6777727_6889164 | 6795545 | CATATTAA | C | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp1 HG01109.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0022a0002c0003t0001 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278others(22): Show | 25 | 362 | 0.0691 | -7 | c.-35 others(26): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KIAA0232_chr4_6777727_6889164 | 6837904 | CAAAGGGG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(32): Show |
a0001a0005a0010 | a0001c0001a0005c0008a0010c0016 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0059a0001c0001t0004g0007a0001c0001t0004g0008others(32): Show | 35 | 362 | 0.0967 | -7 | c.232 others(24): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
KIAA0319L_chr1_35428492_35562403 | 35484795 | TATATATA | T | intron_variant | MODIFIER | HG02083.hp1 HG02683.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0251a0001c0003t0003g0009a0001c0003t0003g0025others(1): Show | 4 | 324 | 0.0124 | -7 | c.667 others(24): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
KIAA0319L_chr1_35428492_35562403 | 35484797 | TATATATA | T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01123.hp1 others(14): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003a0001c0003t0007others(1): Show | a0001c0002t0002g0226a0001c0002t0002g0230a0001c0002t0002g0231others(14): Show | 17 | 324 | 0.0525 | -7 | c.667 others(24): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
KIAA0319L_chr1_35428492_35562403 | 35484799 | TATATATA | T | intron_variant | MODIFIER | HG01433.hp2 HG01993.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0002t0002a0001c0003t0003others(1): Show | a0001c0001t0006g0154a0001c0002t0002g0321a0001c0003t0003g0011others(1): Show | 4 | 324 | 0.0124 | -7 | c.667 others(24): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
KIAA0319L_chr1_35428492_35562403 | 35503087 | CCCACTCT | C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0162a0001c0004t0008g0175a0001c0004t0008g0176others(3): Show | 6 | 324 | 0.0185 | -7 | c.666 others(24): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
KIAA0319L_chr1_35428492_35562403 | 35541349 | CTTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0064a0001c0001t0001g0065others(4): Show | 7 | 324 | 0.0216 | -7 | c.142 others(26): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
KIAA0319_chr6_24539107_24651191 | 24597917 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG01884.hp1 HG01891.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0010a0001c0001t0013a0001c0001t0034others(1): Show | a0001c0001t0010g0219a0001c0001t0013g0218a0001c0001t0013g0223others(3): Show | 6 | 300 | 0.0200 | -7 | c.56- others(22): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2/20 | chr6 | TogoVar | ||||||
KIAA0513_chr16_85022795_85099218 | 85050336 | TTTATTTA | T | intron_variant | MODIFIER | HG01358.hp1 HG02257.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0042a0001c0001t0109 | a0001c0001t0012g0018a0001c0001t0012g0363a0001c0001t0042g0341others(1): Show | 5 | 390 | 0.0128 | -7 | c.-17 others(28): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIAA0586_chr14_58422719_58556297 | 58484915 | TATATATA | T | intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 NA18906.hp1 |
a0003a0005 | a0003c0007a0005c0004 | a0003c0007t0007a0005c0004t0007 | a0003c0007t0007g0290a0005c0004t0007g0288a0005c0004t0007g0289 | 3 | 300 | 0.0100 | -7 | c.314 others(26): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | chr14 | TogoVar | ||||||
KIAA0586_chr14_58422719_58556297 | 58497870 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(263): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0008a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0012others(263): Show | 266 | 300 | 0.8867 | -7 | c.399 others(24): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIAA0825_chr5_94145851_94623604 | 94155213 | CTTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG02559.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0006a0001c0001t0035a0001c0001t0040others(3): Show | a0001c0001t0006g0050a0001c0001t0035g0024a0001c0001t0040g0039others(3): Show | 6 | 54 | 0.1111 | -7 | c.371 others(26): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 20/20 | chr5 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45194052 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG02155.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0026a0001c0001t0039others(8): Show | a0001c0001t0017g0039a0001c0001t0017g0042a0001c0001t0017g0048others(16): Show | 19 | 398 | 0.0477 | -7 | c.*31 others(18): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 10/10 | 3117 | chr22 | TogoVar | |||||
KIAA0930_chr22_45187244_45245894 | 45217360 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(33): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0017a0001c0001t0018a0001c0001t0034others(22): Show | a0001c0001t0017g0039a0001c0001t0017g0042a0001c0001t0017g0048others(33): Show | 36 | 398 | 0.0905 | -7 | c.65- others(22): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45228784 | CCACCAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0030others(4): Show | a0001c0001t0001g0069a0001c0001t0027g0149a0001c0001t0030g0018others(5): Show | 8 | 398 | 0.0201 | -7 | c.64+ others(24): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45229043 | CCCCACCA | C | intron_variant | MODIFIER | HG02132.hp2 NA18953.hp2 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0056a0001c0001t0148others(2): Show | a0001c0001t0053g0040a0001c0001t0053g0078a0001c0001t0056g0038others(4): Show | 7 | 398 | 0.0176 | -7 | c.64+ others(24): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
KIAA1143_chr3_44743744_44766619 | 44761616 | AAAGACAG | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(85): Show | 237 | 328 | 0.7226 | -7 | c.-21 others(14): Show |
KIAA1143 | ENSG00000163807.6 | transcript | ENST00000296121.6 | protein_coding | 1/3 | 15 | chr3 | TogoVar | |||||
KIAA1210_chrX_119073635_119132812 | 119083998 | CAAAAAAA | C | intron_variant | MODIFIER | HG01071.hp1 HG02615.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0048a0004c0004t0003g0057 | 2 | 261 | 0.0077 | -7 | c.432 others(24): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 10/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119125726 | TATATATA | T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 261 | 0.0038 | -7 | c.-11 others(24): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1210_chrX_119073635_119132812 | 119127321 | GTAGAAGA | G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 261 | 0.0038 | -7 | c.-11 others(22): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 1/11 | chrX | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24277924 | CCCCTGTG | C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0025a0002c0002 | a0001c0003t0001a0001c0025t0002a0001c0025t0003others(2): Show | a0001c0003t0001g0002a0001c0025t0002g0001a0001c0025t0003g0030others(2): Show | 5 | 240 | 0.0208 | -7 | c.354 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | chr10 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24309134 | AAAAAAGG | A | intron_variant | MODIFIER | HG02135.hp1 HG03017.hp2 HG03492.hp1 others(2): Show |
a0001a0010 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0005t0002others(2): Show | a0001c0001t0002g0212a0001c0004t0001g0107a0001c0005t0002g0094others(2): Show | 5 | 240 | 0.0208 | -7 | c.355 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24355728 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 HG01258.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0013others(11): Show | a0001c0004t0001a0001c0005t0001a0001c0013t0005others(13): Show | a0001c0004t0001g0060a0001c0005t0001g0190a0001c0013t0005g0182others(13): Show | 16 | 240 | 0.0667 | -7 | c.355 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24409984 | CTTTTTCT | C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG03225.hp1 |
a0001a0002a0007 | a0001c0003a0002c0073a0007c0029 | a0001c0003t0003a0002c0073t0002a0007c0029t0002 | a0001c0003t0003g0018a0002c0073t0002g0031a0007c0029t0002g0232 | 3 | 240 | 0.0125 | -7 | c.554 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24415110 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp2 HG01928.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(10): Show | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0001g0226others(13): Show | 16 | 240 | 0.0667 | -7 | c.554 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24422901 | CTTTTTTT | C | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp2 HG01884.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(15): Show | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0001g0226others(19): Show | 22 | 240 | 0.0917 | -7 | c.554 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24433305 | TTTTTTTG | T | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG01106.hp1 others(46): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(23): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(35): Show | a0001c0001t0001g0231a0001c0003t0001g0002a0001c0003t0001g0045others(46): Show | 49 | 240 | 0.2042 | -7 | c.752 others(22): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24501729 | CTTTTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG02809.hp2 HG02886.hp2 others(7): Show |
a0001a0006a0013others(1): Show | a0001c0004a0001c0009a0001c0010others(7): Show | a0001c0004t0003a0001c0009t0001a0001c0010t0004others(7): Show | a0001c0004t0003g0192a0001c0009t0001g0091a0001c0010t0004g0239others(7): Show | 10 | 240 | 0.0417 | -7 | c.200 others(24): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24538606 | AAAAAGAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00733.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0011a0001c0022others(8): Show | a0001c0001t0001a0001c0011t0003a0001c0022t0003others(8): Show | a0001c0001t0001g0093a0001c0011t0003g0142a0001c0011t0003g0165others(9): Show | 12 | 240 | 0.0500 | -7 | c.353 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1328_chr18_36824127_37230334 | 37105916 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0005a0001c0002t0011a0001c0002t0015others(2): Show | a0001c0002t0005g0196a0001c0002t0005g0197a0001c0002t0011g0198others(8): Show | 11 | 200 | 0.0550 | -7 | c.123 others(28): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33384930 | TTTTTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG01496.hp1 HG02145.hp1 others(22): Show |
a0001a0004a0009others(3): Show | a0001c0008a0001c0009a0001c0011others(17): Show | a0001c0008t0001a0001c0008t0003a0001c0009t0011others(20): Show | a0001c0008t0001g0083a0001c0008t0003g0004a0001c0008t0003g0074others(22): Show | 25 | 226 | 0.1106 | -7 | c.238 others(24): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33440120 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0015a0001c0033a0001c0034others(1): Show | a0001c0015t0009a0001c0015t0066a0001c0033t0033others(2): Show | a0001c0015t0009g0116a0001c0015t0066g0115a0001c0033t0033g0193others(2): Show | 5 | 226 | 0.0221 | -7 | c.238 others(26): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33518138 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG02145.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0004a0001c0005a0001c0039others(5): Show | a0001c0004t0012a0001c0005t0026a0001c0039t0006others(5): Show | a0001c0004t0012g0188a0001c0005t0026g0035a0001c0039t0006g0085others(5): Show | 8 | 226 | 0.0354 | -7 | c.239 others(26): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33614578 | ATATATAT | A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03579.hp2 others(2): Show |
a0001a0004a0007 | a0001c0013a0001c0041a0004c0048others(1): Show | a0001c0013t0001a0001c0041t0010a0004c0048t0010others(1): Show | a0001c0013t0001g0008a0001c0041t0010g0086a0004c0048t0010g0078others(2): Show | 5 | 226 | 0.0221 | -7 | c.528 others(26): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33661900 | AAAAAAAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(31): Show |
a0001a0005a0009others(1): Show | a0001c0004a0001c0005a0001c0006others(13): Show | a0001c0004t0006a0001c0004t0012a0001c0004t0015others(25): Show | a0001c0004t0006g0015a0001c0004t0012g0188a0001c0004t0015g0119others(31): Show | 34 | 226 | 0.1504 | -7 | c.615 others(24): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549_chr7_138826381_138986389 | 138931752 | CAAAAAAA | C | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 HG02135.hp1 others(7): Show |
a0001a0002a0022 | a0001c0001a0002c0002a0002c0054others(1): Show | a0001c0001t0006a0002c0002t0002a0002c0002t0005others(3): Show | a0001c0001t0006g0052a0002c0002t0002g0049a0002c0002t0002g0054others(7): Show | 10 | 204 | 0.0490 | -7 | c.188 others(26): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
KIAA1549_chr7_138826381_138986389 | 138984900 | TCTCAAAC | T | upstream_gene_variant | MODIFIER | HG04228.hp1 HG04228.hp2 |
a0001a0004 | a0001c0001a0004c0061 | a0001c0001t0001a0004c0061t0002 | a0001c0001t0001g0131a0004c0061t0002g0110 | 2 | 204 | 0.0098 | -7 | c.-36 others(18): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 3512 | chr7 | TogoVar |