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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIAA1549L_chr11_33371108_33679102 | 33397708 | TCTCACAC others(23): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0053 | 1 | 219 | 0.0046 | -30 | c.238 others(49): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33530426 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA18990.hp2 NA19060.hp2 NA19082.hp2 |
a0001a0021 | a0001c0002a0021c0078 | a0001c0002t0001a0001c0002t0002a0021c0078t0002 | a0001c0002t0001g0047 a0001c0002t0002g0198 a0021c0078t0002g0197 |
3 | 204 | 0.0147 | -30 | c.239 others(49): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33530428 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03942.hp1 |
a0007a0008 | a0007c0056a0008c0022 | a0007c0056t0051a0008c0022t0024 | a0007c0056t0051g0054 a0008c0022t0024g0129 |
2 | 211 | 0.0095 | -30 | c.239 others(49): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33641572 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03942.hp2 |
a0001 | a0001c0014a0001c0088 | a0001c0014t0007a0001c0088t0001 | a0001c0014t0007g0208 a0001c0088t0001g0038 |
2 | 6 | 0.3333 | -30 | c.541 others(49): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549_chr7_138826381_138986389 | 138903792 | AGTGTGTG others(23): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 41 | 0.0244 | -30 | c.352 others(45): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 25147155 | CTATTTTA others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01167.hp1 others(15): Show |
a0005a0007a0013others(2): Show | a0005c0011a0005c0018a0005c0029others(7): Show | a0005c0011t0004a0005c0011t0042a0005c0018t0004others(9): Show | a0005c0011t0004g0010 a0005c0011t0004g0223 a0005c0011t0004g0227 others(15): Show |
18 | 83 | 0.2169 | -30 | c.453 others(51): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIDINS220_chr2_8723858_8842613 | 8744379 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 313 | 0.0032 | -30 | c.358 others(49): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744381 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG01175.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0168 a0002c0002t0001g0007 a0002c0002t0001g0049 others(4): Show |
7 | 313 | 0.0224 | -30 | c.358 others(49): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744383 | AAAAAAAT others(23): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 330 | 0.0030 | -30 | c.358 others(49): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8778016 | CCAACTTC others(23): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0310 | 1 | 332 | 0.0030 | -30 | c.270 others(47): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 20/29 | chr2 | TogoVar | |||||||
KIF13A_chr6_17758693_17992635 | 17779243 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0013t0001g0104 |
3 | 182 | 0.0165 | -30 | c.394 others(47): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 32/38 | chr6 | TogoVar | |||||||
KIF13A_chr6_17758693_17992635 | 17858093 | GTGTGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 280 | 0.0036 | -30 | c.221 others(47): Show |
KIF13A | ENSG00000137177.20 | transcript | ENST00000259711.11 | protein_coding | 4/38 | chr6 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16440529 | GCGCGCAC others(23): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 248 | 0.0040 | -30 | c.130 others(51): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 12/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16440533 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp2 NA18522.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0011a0005c0009t0002others(1): Show | a0001c0001t0001g0005 a0001c0001t0011g0162 a0005c0009t0002g0056 others(2): Show |
5 | 31 | 0.1613 | -30 | c.130 others(51): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 12/25 | chr20 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20707781 | ATGTGTAT others(23): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0010 | a0010c0068 | a0010c0068t0001 | a0010c0068t0001g0280 | 1 | 402 | 0.0025 | -30 | c.670 others(47): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 4/14 | chr1 | TogoVar | |||||||
KIF24_chr9_34247380_34334268 | 34262661 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0238 | 1 | 381 | 0.0026 | -30 | c.151 others(47): Show |
KIF24 | ENSG00000186638.17 | transcript | ENST00000402558.7 | protein_coding | 9/12 | chr9 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245443663 | AGGAGAGG others(23): Show |
A | intron_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0066 | 1 | 160 | 0.0063 | -30 | c.116 others(51): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245712176 | TACACACA others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01109.hp1 others(17): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0011a0001c0001t0024a0001c0001t0029others(17): Show | a0001c0001t0011g0084 a0001c0001t0024g0068 a0001c0001t0029g0094 others(17): Show |
20 | 46 | 0.4348 | -30 | c.*95 others(41): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2745 | chr1 | TogoVar | |||||||
KIF3C_chr2_25921598_25987497 | 25962990 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0078 | 1 | 230 | 0.0043 | -30 | c.154 others(49): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
KIN_chr10_7745962_7792993 | 7749412 | ATAATTAA others(23): Show |
A | downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0044 | 1 | 424 | 0.0024 | -30 | c.*66 others(41): Show |
KIN | ENSG00000151657.12 | transcript | ENST00000379562.9 | protein_coding | 1549 | chr10 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126923245 | TCTTCTTC others(23): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0038 | 1 | 113 | 0.0088 | -30 | c.55+ others(47): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126974466 | GTATAGCC others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01106.hp1 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0002g0034 a0001c0001t0002g0050 a0001c0001t0002g0062 others(75): Show |
78 | 114 | 0.6842 | -30 | c.55+ others(47): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126974505 | GTTACACA others(23): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0003 | 1 | 113 | 0.0088 | -30 | c.55+ others(47): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126974535 | ATTACACA others(23): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0001t0046others(3): Show | a0001c0001t0004g0073 a0001c0001t0008g0075 a0001c0001t0046g0049 others(3): Show |
6 | 37 | 0.1622 | -30 | c.55+ others(47): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KLC1_chr14_103624211_103706544 | 103697856 | TCTGCACA others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02922.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0004 | a0001c0001t0006a0001c0009t0006a0002c0004t0007 | a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0022 others(6): Show |
9 | 366 | 0.0246 | -30 | c.184 others(49): Show |
KLC1 | ENSG00000126214.22 | transcript | ENST00000334553.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
KLF12_chr13_73681089_74139404 | 73957015 | AGAAAGGA others(23): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02698.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0002g0008 a0001c0001t0008g0106 a0001c0002t0002g0005 others(2): Show |
5 | 13 | 0.3846 | -30 | c.34- others(47): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87734940 | CCCCCTCC others(23): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 |
2 | 378 | 0.0053 | -30 | c.507 others(47): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87734949 | ACTCCTGA others(23): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0007t0001others(14): Show | a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0001g0140 others(141): Show |
145 | 378 | 0.3836 | -30 | c.507 others(47): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHL10_chr17_41832825_41853384 | 41851843 | GGAGGTTG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -30 | c.*35 others(41): Show |
KLHL10 | ENSG00000161594.7 | transcript | ENST00000293303.5 | protein_coding | 3460 | chr17 | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979568 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0181 a0001c0001t0007g0191 |
2 | 278 | 0.0072 | -30 | c.*83 others(41): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4151 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979570 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0001 a0001c0001t0002g0202 a0001c0001t0002g0205 others(1): Show |
5 | 274 | 0.0182 | -30 | c.*83 others(41): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4149 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979572 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0117 a0001c0001t0002g0199 a0001c0001t0002g0234 others(2): Show |
5 | 271 | 0.0185 | -30 | c.*83 others(41): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4147 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979574 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp2 NA18944.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0002t0002 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 others(8): Show |
13 | 281 | 0.0463 | -30 | c.*83 others(41): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4145 | chrX | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23979580 | AAAAAAAA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0142 | 1 | 278 | 0.0036 | -30 | c.*83 others(41): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 4139 | chrX | TogoVar | |||||||
KLHL2_chr4_165202561_165328147 | 165264700 | GTGTGTAT others(23): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0250 | 1 | 249 | 0.0040 | -30 | c.544 others(47): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL2_chr4_165202561_165328147 | 165264710 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01516.hp1 HG01517.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0159 a0001c0002t0001g0162 a0001c0002t0001g0163 others(14): Show |
17 | 233 | 0.0730 | -30 | c.544 others(47): Show |
KLHL2 | ENSG00000109466.14 | transcript | ENST00000226725.11 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL36_chr16_84643511_84672686 | 84644141 | AAGAAAGA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0019 | a0001c0019t0098 | a0001c0019t0098g0087 | 1 | 446 | 0.0022 | -30 | c.-45 others(41): Show |
KLHL36 | ENSG00000135686.13 | transcript | ENST00000564996.6 | protein_coding | 4369 | chr16 | TogoVar | |||||||
KLHL5_chr4_39057232_39131233 | 39069428 | TTTTATAT others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG02145.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0031 | a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0189 others(2): Show |
5 | 103 | 0.0485 | -30 | c.383 others(47): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL5_chr4_39057232_39131233 | 39069445 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 300 | 0.0033 | -30 | c.383 others(47): Show |
KLHL5 | ENSG00000109790.18 | transcript | ENST00000504108.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHL8_chr4_87155103_87225618 | 87214415 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 15 | 0.0667 | -30 | c.-15 others(49): Show |
KLHL8 | ENSG00000145332.14 | transcript | ENST00000273963.10 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
KLK3_chr19_50849915_50865764 | 50858358 | GGGTCTGA others(23): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 460 | 0.0022 | -30 | c.493 others(43): Show |
KLK3 | ENSG00000142515.16 | transcript | ENST00000326003.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KLK4_chr19_50901351_50916395 | 50906719 | TGGACTCC others(23): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0113 | 1 | 412 | 0.0024 | -30 | c.*18 others(39): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 6/6 | 185 | chr19 | TogoVar | ||||||
KLK5_chr19_50938303_50958038 | 50945053 | TTTCTTTC others(23): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 378 | 0.0026 | -30 | c.727 others(47): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152290278 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0024 | 1 | 169 | 0.0059 | -30 | c.850 others(49): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT2C_chr7_152129925_152441003 | 152297051 | AAGACAGA others(23): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG03927.hp2 HG04199.hp1 others(6): Show |
a0002a0018a0020 | a0002c0002a0002c0011a0018c0021others(1): Show | a0002c0002t0002a0002c0011t0002a0018c0021t0007others(1): Show | a0002c0002t0002g0019 a0002c0002t0002g0053 a0002c0002t0002g0064 others(6): Show |
9 | 115 | 0.0783 | -30 | c.849 others(49): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | |||||||
KMT5B_chr11_68149863_68218296 | 68198437 | AAAGACAA others(23): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02074.hp2 HG02145.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0001 | a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0114 others(4): Show |
7 | 34 | 0.2059 | -30 | c.-76 others(47): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338489 | ACTCTGTC others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 4 | 403 | 0.0099 | -30 | c.-16 others(41): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1386 | chr19 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338494 | GTCTCTGT others(23): Show |
G | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 215 | 0.0047 | -30 | c.-16 others(41): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1381 | chr19 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338525 | TCTCTCTC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 404 | 0.0050 | -30 | c.-15 others(41): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1350 | chr19 | TogoVar | |||||||
KMT5C_chr19_55334876_55353121 | 55338529 | TCTCTCTC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03041.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0036 a0001c0006t0001g0038 a0001c0006t0001g0107 |
4 | 403 | 0.0099 | -30 | c.-15 others(41): Show |
KMT5C | ENSG00000133247.14 | transcript | ENST00000255613.8 | protein_coding | 1346 | chr19 | TogoVar |