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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KDM6A_chrX_44868188_45117779 | 45042256 | A | AGGGAGAG | intron_variant | MODIFIER | HG01952.hp1 NA19009.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0091 a0001c0003t0001g0008 a0002c0002t0001g0138 |
3 | 175 | 0.0171 | 7 | c.654 others(24): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KDM6B_chr17_7829217_7859796 | 7838447 | C | CACACACA | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 NA18955.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0008others(4): Show | a0001c0001t0002a0002c0003t0001a0002c0008t0001others(4): Show | a0001c0001t0002g0165 a0001c0001t0002g0166 a0002c0003t0001g0077 others(6): Show |
9 | 61 | 0.1475 | 7 | c.-38 others(26): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 1/23 | chr17 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140178232 | T | TTCCTTCC | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02074.hp1 NA18961.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0004a0006c0007t0004 | a0002c0002t0004g0018 a0002c0002t0004g0286 a0002c0002t0004g0296 others(1): Show |
5 | 324 | 0.0154 | 7 | c.-12 others(18): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1250 | chr7 | TogoVar | |||||||
KDM7A_chr7_140079746_140181983 | 140178283 | C | CCTTCCTT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02809.hp1 |
a0005a0008 | a0005c0006a0008c0012 | a0005c0006t0007a0008c0012t0039 | a0005c0006t0007g0024 a0005c0006t0007g0025 a0008c0012t0039g0211 |
3 | 340 | 0.0088 | 7 | c.-13 others(18): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 1301 | chr7 | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10481277 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01168.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0001t0001g0151 others(23): Show |
48 | 107 | 0.4486 | 7 | c.*53 others(18): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 4847 | chr19 | TogoVar | |||||||
KHDC3L_chr6_73357658_73369171 | 73364849 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
8 | 280 | 0.0286 | 7 | c.*98 others(16): Show |
KHDC3L | ENSG00000203908.4 | transcript | ENST00000370367.4 | protein_coding | 679 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61833622 | C | CCATCAAT | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0001g0114 a0001c0001t0006g0217 a0001c0001t0011g0003 others(1): Show |
4 | 242 | 0.0165 | 7 | c.810 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61930523 | T | TAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG02080.hp2 HG02257.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0006g0222 a0001c0001t0009g0085 a0001c0002t0002g0110 others(16): Show |
19 | 198 | 0.0960 | 7 | c.484 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61945110 | A | ATGTATAT | intron_variant | MODIFIER | HG02970.hp2 HG03540.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0010 | a0001c0002t0004g0179 a0001c0002t0004g0180 a0001c0003t0010g0001 others(1): Show |
4 | 83 | 0.0482 | 7 | c.483 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62059198 | G | GTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02080.hp2 HG03017.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0102 a0001c0001t0002g0063 a0001c0002t0003g0139 others(5): Show |
8 | 21 | 0.3810 | 7 | c.220 others(26): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 62213873 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01099.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0002t0004a0001c0004t0004others(2): Show | a0001c0001t0008g0189 a0001c0001t0008g0196 a0001c0001t0008g0206 others(16): Show |
19 | 76 | 0.2500 | 7 | c.92- others(24): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135515365 | T | TAAAAAAA | intron_variant | MODIFIER | HG03688.hp1 HG04115.hp1 NA18942.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0036 a0001c0001t0001g0100 a0001c0001t0001g0119 others(8): Show |
11 | 29 | 0.3793 | 7 | c.89- others(22): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHK_chr2_27081772_27105762 | 27087603 | A | ATCAGGTG | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0039 a0001c0001t0004g0040 others(10): Show |
23 | 322 | 0.0714 | 7 | c.92+ others(20): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA0040_chr1_175151986_175197776 | 175176669 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(37): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0013a0001c0001t0083others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0152 others(14): Show |
40 | 45 | 0.8889 | 7 | c.-31 others(24): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
KIAA0232_chr4_6777727_6889164 | 6800043 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01516.hp2 others(24): Show |
a0001a0005a0006 | a0001c0001a0005c0008a0006c0016 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0214 a0001c0001t0003g0224 a0001c0001t0003g0305 others(24): Show |
27 | 45 | 0.6000 | 7 | c.-35 others(26): Show |
KIAA0232 | ENSG00000170871.12 | transcript | ENST00000307659.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KIAA0319L_chr1_35428492_35562403 | 35486737 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01255.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0004t0001others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0114 a0001c0001t0001g0131 others(19): Show |
22 | 105 | 0.2095 | 7 | c.667 others(24): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 3/20 | chr1 | TogoVar | |||||||
KIAA0319_chr6_24539107_24651191 | 24648678 | A | AAAAAAAC | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01981.hp1 HG02572.hp1 others(9): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0035others(4): Show | a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0135 others(9): Show |
12 | 96 | 0.1250 | 7 | c.-30 others(18): Show |
KIAA0319 | ENSG00000137261.15 | transcript | ENST00000378214.8 | protein_coding | 2488 | chr6 | TogoVar | |||||||
KIAA0586_chr14_58422719_58556297 | 58484924 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(17): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0025 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0033 others(17): Show |
20 | 118 | 0.1695 | 7 | c.314 others(26): Show |
KIAA0586 | ENSG00000100578.18 | transcript | ENST00000652326.2 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45194052 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0056a0001c0001t0073a0001c0001t0099others(4): Show | a0001c0001t0056g0038 a0001c0001t0056g0346 a0001c0001t0073g0323 others(6): Show |
9 | 48 | 0.1875 | 7 | c.*31 others(18): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 10/10 | 3123 | chr22 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45221577 | A | ACGGCTTC | intron_variant | MODIFIER | HG01496.hp1 HG02818.hp2 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0025a0001c0001t0037a0001c0001t0057others(2): Show | a0001c0001t0025g0065 a0001c0001t0025g0086 a0001c0001t0025g0087 others(5): Show |
8 | 396 | 0.0202 | 7 | c.65- others(22): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228935 | C | CCACCAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(35): Show | a0001c0001t0001g0233 a0001c0001t0001g0316 a0001c0001t0001g0318 others(44): Show |
47 | 359 | 0.1309 | 7 | c.64+ others(24): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1210_chrX_119073635_119132812 | 119100399 | A | AAGCAAAT | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02622.hp2 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003a0004c0004t0011 | a0004c0004t0001g0027 a0004c0004t0001g0053 a0004c0004t0001g0054 others(5): Show |
9 | 259 | 0.0347 | 7 | c.649 others(24): Show |
KIAA1210 | ENSG00000250423.3 | transcript | ENST00000691062.1 | protein_coding | 6/11 | chrX | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24250621 | T | TTTTTTTG | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG02886.hp1 others(4): Show |
a0001a0022 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0003a0001c0003t0001a0001c0005t0002others(4): Show | a0001c0001t0003g0099 a0001c0003t0001g0047 a0001c0005t0002g0080 others(4): Show |
7 | 10 | 0.7000 | 7 | c.354 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24355728 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG02040.hp2 HG02698.hp1 others(12): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(10): Show | a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0001g0219 others(12): Show |
15 | 55 | 0.2727 | 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 | 24370264 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG02257.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0094 a0001c0001t0002g0111 a0001c0001t0003g0237 others(24): Show |
27 | 116 | 0.2328 | 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 | 24402516 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01346.hp2 HG03239.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0002others(7): Show | a0001c0001t0001g0109 a0001c0004t0001g0084 a0001c0005t0002g0061 others(7): Show |
10 | 175 | 0.0571 | 7 | c.553 others(26): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1328_chr18_36824127_37230334 | 36913521 | C | CACACACT | intron_variant | MODIFIER | HG03669.hp2 NA20905.hp1 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0175 a0003c0005t0004g0179 |
2 | 177 | 0.0113 | 7 | c.448 others(26): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIAA1328_chr18_36824127_37230334 | 36930249 | G | GTTCTGCA | intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0020 | a0001c0002t0012g0041 a0001c0002t0012g0042 a0001c0002t0020g0043 |
3 | 198 | 0.0152 | 7 | c.449 others(26): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIAA1328_chr18_36824127_37230334 | 37010441 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01109.hp1 others(6): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0066 others(6): Show |
9 | 33 | 0.2727 | 7 | c.576 others(26): Show |
KIAA1328 | ENSG00000150477.15 | transcript | ENST00000280020.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33405839 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02004.hp1 others(27): Show |
a0001a0003a0011others(3): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(26): Show | a0001c0001t0002g0190 a0001c0001t0004g0130 a0001c0002t0002g0125 others(27): Show |
30 | 41 | 0.7317 | 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 | 33614585 | T | TATATATA | intron_variant | MODIFIER | HG00323.hp1 HG02004.hp2 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0012a0001c0016t0008 | a0001c0006t0012g0191 a0001c0016t0008g0167 |
2 | 218 | 0.0092 | 7 | c.528 others(26): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | chr11 | TogoVar | |||||||
KIAA1549L_chr11_33371108_33679102 | 33630096 | C | CTCGGGGG | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0011a0001c0024a0001c0033others(2): Show | a0001c0011t0063a0001c0024t0038a0001c0033t0034others(3): Show | a0001c0011t0063g0080 a0001c0024t0038g0140 a0001c0033t0034g0194 others(3): Show |
6 | 224 | 0.0268 | 7 | c.540 others(28): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1586_chr6_57041693_57060225 | 57042727 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02055.hp2 HG02056.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0002a0003c0003others(1): Show | a0001c0004t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0004t0001g0002 a0002c0002t0001g0002 a0003c0003t0001g0002 others(3): Show |
14 | 260 | 0.0538 | 7 | c.-40 others(18): Show |
KIAA1586 | ENSG00000168116.14 | transcript | ENST00000370733.5 | protein_coding | 3965 | chr6 | TogoVar | |||||||
KIAA1614_chr1_180907897_180956614 | 180947459 | T | TGGGGAGA | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(59): Show |
a0001a0002a0013 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0116others(20): Show | a0001c0001t0005g0001 a0001c0001t0005g0044 a0001c0001t0005g0119 others(50): Show |
62 | 428 | 0.1449 | 7 | c.*18 others(18): Show |
KIAA1614 | ENSG00000135835.12 | transcript | ENST00000367588.9 | protein_coding | 9/9 | 1891 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 24992814 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01106.hp2 others(18): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0004a0001c0005others(15): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0004others(16): Show | a0001c0001t0001g0050 a0001c0001t0001g0132 a0001c0004t0001g0007 others(18): Show |
21 | 64 | 0.3281 | 7 | c.-20 others(28): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25044013 | G | GGTGGATC | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01109.hp2 others(56): Show |
a0001a0002a0003others(12): Show | a0001c0005a0001c0012a0001c0030others(39): Show | a0001c0005t0004a0001c0012t0003a0001c0012t0015others(44): Show | a0001c0005t0004g0012 a0001c0005t0004g0020 a0001c0012t0003g0030 others(56): Show |
59 | 252 | 0.2341 | 7 | c.439 others(26): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 5/12 | chr22 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 25062827 | C | CCCCGCCA | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01071.hp1 others(67): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0004a0001c0005others(36): Show | a0001c0002t0003a0001c0004t0001a0001c0004t0013others(43): Show | a0001c0002t0003g0075 a0001c0002t0003g0078 a0001c0002t0003g0106 others(67): Show |
70 | 238 | 0.2941 | 7 | c.453 others(28): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25062837 | C | CGCCACCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0003others(11): Show | a0001c0004a0001c0005a0001c0006others(33): Show | a0001c0004t0001a0001c0004t0007a0001c0004t0028others(42): Show | a0001c0004t0001g0007 a0001c0004t0001g0036 a0001c0004t0001g0152 others(66): Show |
69 | 252 | 0.2738 | 7 | c.453 others(28): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25074514 | A | AAAAAAAG | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01169.hp2 others(2): Show |
a0005a0007 | a0005c0011a0005c0029a0005c0070others(1): Show | a0005c0011t0004a0005c0029t0004a0005c0070t0004others(1): Show | a0005c0011t0004g0227 a0005c0029t0004g0096 a0005c0029t0004g0128 others(2): Show |
5 | 143 | 0.0350 | 7 | c.453 others(28): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25182182 | A | AAAAAAAC | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01106.hp2 others(72): Show |
a0001a0002a0004others(16): Show | a0001c0004a0001c0007a0001c0010others(45): Show | a0001c0004t0007a0001c0004t0014a0001c0007t0005others(57): Show | a0001c0004t0007g0149 a0001c0004t0014g0220 a0001c0007t0005g0176 others(72): Show |
75 | 183 | 0.4098 | 7 | c.519 others(24): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIAA1755_chr20_38205503_38265735 | 38250487 | G | GTGTGTGT | intron_variant | MODIFIER | HG02129.hp1 NA18961.hp2 NA18970.hp1 others(6): Show |
a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0209 a0008c0005t0001g0211 a0008c0005t0001g0212 others(6): Show |
9 | 351 | 0.0256 | 7 | c.4-4 others(20): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 1/13 | chr20 | TogoVar | |||||||
KIAA1755_chr20_38205503_38265735 | 38259820 | C | CACACACA | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp2 HG02630.hp1 others(2): Show |
a0001a0018a0027 | a0001c0001a0018c0026a0027c0030 | a0001c0001t0003a0018c0026t0003a0027c0030t0003 | a0001c0001t0003g0258 a0001c0001t0003g0260 a0001c0001t0003g0265 others(2): Show |
5 | 125 | 0.0400 | 7 | c.3+6 others(18): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 1/13 | chr20 | TogoVar | |||||||
KIAA2012_chr2_202068255_202210188 | 202116465 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp1 others(24): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0002c0001others(8): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(8): Show | a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0140 others(24): Show |
27 | 64 | 0.4219 | 7 | c.176 others(26): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202132802 | A | ATATATTT | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01884.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0002c0008a0003c0006 | a0001c0002t0001a0001c0002t0002a0002c0008t0001others(1): Show | a0001c0002t0001g0098 a0001c0002t0002g0165 a0002c0008t0001g0225 others(5): Show |
8 | 252 | 0.0317 | 7 | c.183 others(26): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202133101 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01257.hp2 HG01358.hp1 others(12): Show |
a0001a0003a0006others(1): Show | a0001c0002a0003c0006a0006c0007others(1): Show | a0001c0002t0001a0003c0006t0001a0006c0007t0001others(1): Show | a0001c0002t0001g0151 a0003c0006t0001g0064 a0006c0007t0001g0057 others(12): Show |
15 | 204 | 0.0735 | 7 | c.183 others(26): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202200707 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(113): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0004a0002c0001others(21): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(21): Show | a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0104 others(113): Show |
116 | 159 | 0.7296 | 7 | c.340 others(26): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA2012_chr2_202068255_202210188 | 202206056 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(53): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0002c0001others(14): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(14): Show | a0001c0002t0001g0098 a0001c0002t0001g0106 a0001c0002t0001g0112 others(53): Show |
56 | 66 | 0.8485 | 7 | c.*10 others(18): Show |
KIAA2012 | ENSG00000182329.14 | transcript | ENST00000498697.3 | protein_coding | 869 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744388 | A | ATATATCT | intron_variant | MODIFIER | HG00280.hp2 HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0008 a0001c0004t0001g0090 |
3 | 221 | 0.0136 | 7 | c.358 others(26): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIF11_chr10_92588130_92660395 | 92591651 | C | CAGGCACT | upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0308 |
3 | 350 | 0.0086 | 7 | c.-17 others(18): Show |
KIF11 | ENSG00000138160.7 | transcript | ENST00000260731.5 | protein_coding | 1478 | chr10 | TogoVar | |||||||
KIF13A_chr6_17758693_17992635 | 17779258 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01169.hp2 others(5): Show |
a0001a0015 | a0001c0002a0015c0024 | a0001c0002t0002a0015c0024t0002 | a0001c0002t0002g0164 a0001c0002t0002g0175 a0001c0002t0002g0177 others(5): Show |
8 | 246 | 0.0325 | 7 | c.394 others(24): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 32/38 | chr6 | TogoVar |