| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GLOD4_chr17_754330_787280 | 762424 | TGCACCTA others(61): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00639.hp1 others(56): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0003c0004others(1): Show | a0001c0001t0001a0001c0008t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0028others(36): Show | 59 | 420 | 0.1405 | -68 | c.832 others(85): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | ||||||
| GNAT3_chr7_80453635_80517064 | 80497608 | GTATATAC others(61): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0256a0001c0002t0002g0153 | 2 | 334 | 0.0060 | -68 | c.119 others(85): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
| GNG8_chr19_46628953_46641202 | 46635540 | GGGGTGGG others(61): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 438 | 0.0023 | -68 | c.-44 others(83): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| GNPTG_chr16_1346931_1369113 | 1367506 | CTCCCTCC others(61): Show |
C | downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0109 | 1 | 378 | 0.0027 | -68 | c.*44 others(79): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 3394 | chr16 | TogoVar | ||||||
| GOLGA6C_chr15_75253334_75278455 | 75264067 | AGCAGGAA others(61): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02965.hp1 | a0029 | a0029c0028 | a0029c0028t0011 | a0029c0028t0011g0100 | 1 | 200 | 0.0050 | -68 | c.550 others(78): Show |
p.Gln others(13): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 7/18 | 815/5603 | 550/2082 | 184/693 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| GOLGA8A_chr15_34374068_34442808 | 34437425 | CCGCCGCC others(61): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02698.hp2 HG03139.hp1 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0013a0003c0003others(2): Show | a0001c0001t0023a0001c0001t0095a0001c0013t0023others(3): Show | a0001c0001t0023g0149a0001c0001t0095g0150a0001c0013t0023g0151others(3): Show | 6 | 245 | 0.0245 | -68 | c.-13 others(79): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47735 | chr15 | TogoVar | |||||
| GPIHBP1_chr8_143208218_143222170 | 143211585 | GGGGGGAG others(61): Show |
G | upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 106 | 0.0094 | -68 | c.-16 others(79): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1632 | chr8 | TogoVar | ||||||
| GPR42_chr19_35366068_35377962 | 35374067 | GAAGGAAG others(61): Show |
G | downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0001 | 1 | 399 | 0.0025 | -68 | c.*16 others(79): Show |
GPR42 | ENSG00000126251.7 | transcript | ENST00000454971.3 | protein_coding | 1106 | chr19 | TogoVar | ||||||
| GRHL1_chr2_9946693_10007277 | 9998443 | TGTGTGTA others(61): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0374 | 1 | 418 | 0.0024 | -68 | c.167 others(85): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRID1_chr10_85594552_86371795 | 85820035 | CAGGCAGG others(61): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0007 | a0002c0007t0028 | a0002c0007t0028g0051 | 1 | 96 | 0.0104 | -68 | c.123 others(89): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 8/15 | chr10 | TogoVar | ||||||
| GRIK2_chr6_101388708_102075083 | 101760366 | ATATATTT others(61): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0004 | a0001c0001t0002g0030a0001c0008t0004g0105 | 2 | 116 | 0.0172 | -68 | c.952 others(87): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GRIK2_chr6_101388708_102075083 | 101761798 | TTTCTTCC others(61): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0001g0050others(27): Show | 30 | 116 | 0.2586 | -68 | c.952 others(87): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | chr6 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2960892 | TTATATCA others(61): Show |
T | upstream_gene_variant | MODIFIER | NA19005.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0097 | 1 | 268 | 0.0037 | -68 | c.-31 others(79): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2678 | chr4 | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2844999 | ATATATTT others(61): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0294 | 1 | 316 | 0.0032 | -68 | c.149 others(85): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845015 | ATGTGTAT others(61): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 316 | 0.0032 | -68 | c.149 others(85): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845039 | ATGTGTAT others(61): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0264a0002c0002t0005g0117 | 2 | 316 | 0.0063 | -68 | c.149 others(85): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| HDAC9_chr7_18490749_19007416 | 18732880 | TGTGCGTA others(61): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 156 | 0.0064 | -68 | c.190 others(87): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(61): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 NA18967.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0001 | a0001c0001t0003g0020a0001c0001t0003g0042a0001c0001t0006g0257others(1): Show | 4 | 270 | 0.0148 | -68 | c.178 others(85): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HECTD4_chr12_112155195_112387431 | 112323981 | CCTTCCTT others(61): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 270 | 0.0037 | -68 | c.178 others(85): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35682258 | TGTGTATA others(61): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01099.hp1 others(22): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0003g0119a0001c0001t0003g0120a0001c0001t0003g0128others(22): Show | 25 | 392 | 0.0638 | -68 | c.148 others(85): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
| HGSNAT_chr8_43135464_43207855 | 43181098 | GGAGAGGG others(61): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02647.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0001c0001t0008a0002c0002t0005others(1): Show | a0001c0001t0001g0007a0001c0001t0008g0168a0002c0002t0005g0193others(4): Show | 7 | 234 | 0.0299 | -68 | c.101 others(86): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HHIPL1_chr14_99640129_99685569 | 99656824 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01071.hp1 others(18): Show |
a0000a0001a0002 | a0000c0014a0001c0002a0002c0001 | a0000c0014t0023a0001c0002t0002a0001c0002t0003others(3): Show | a0000c0014t0023g0007a0001c0002t0002g0163a0001c0002t0002g0196others(16): Show | 21 | 374 | 0.0562 | -68 | c.903 others(83): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| HIPK2_chr7_139556570_139782998 | 139704420 | ACCCACAC others(61): Show |
A | intron_variant | MODIFIER | HG03579.hp1 HG06807.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0090a0001c0001t0100 | a0001c0001t0044g0106a0001c0001t0090g0017a0001c0001t0100g0105 | 3 | 154 | 0.0195 | -68 | c.110 others(89): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
| HRH1_chr3_11149493_11268557 | 11167250 | TTCTCCAG others(61): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346a0001c0001t0001g0347 | 2 | 352 | 0.0057 | -68 | c.-36 others(87): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HRH1_chr3_11149493_11268557 | 11167284 | TTCTCCAG others(61): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01358.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0108a0001c0001t0001g0111a0001c0001t0001g0112others(45): Show | 48 | 352 | 0.1364 | -68 | c.-36 others(87): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| HRH3_chr20_62209960_62225278 | 62213374 | AGGAGAGT others(61): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp1 NA18983.hp2 NA19012.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0011 | 5 | 368 | 0.0136 | -68 | c.*25 others(79): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1585 | chr20 | TogoVar | ||||||
| HTT_chr4_3069681_3248957 | 3227211 | CCCACCCC others(61): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(33): Show |
a0007a0010a0012others(16): Show | a0007c0007a0010c0009a0012c0012others(20): Show | a0007c0007t0003a0010c0009t0003a0012c0012t0003others(20): Show | a0007c0007t0003g0023a0007c0007t0003g0024a0007c0007t0003g0025others(33): Show | 36 | 294 | 0.1225 | -68 | c.784 others(87): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 57/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| HTT_chr4_3069681_3248957 | 3227356 | TCCCTGTC others(61): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0002c0001others(7): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0002others(7): Show | a0001c0002t0001g0142a0001c0002t0001g0150a0001c0002t0001g0151others(15): Show | 18 | 294 | 0.0612 | -68 | c.784 others(85): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 57/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| IDO2_chr8_39929651_40021392 | 40020765 | AGCTGTTA others(61): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0201 | 1 | 360 | 0.0028 | -68 | c.*51 others(79): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 4374 | chr8 | TogoVar | ||||||
| IFITM1_chr11_309040_320272 | 309250 | GAGGCCAG others(61): Show |
G | upstream_gene_variant | MODIFIER | HG02004.hp2 HG02559.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 34 | 0.0882 | -68 | c.-49 others(79): Show |
IFITM1 | ENSG00000185885.17 | transcript | ENST00000408968.4 | protein_coding | 4789 | chr11 | TogoVar | ||||||
| IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(61): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0032 | 1 | 310 | 0.0032 | -68 | c.684 others(87): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
| IMMP2L_chr7_110657644_111567492 | 111539172 | GAAGGAAG others(61): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 84 | 0.0119 | -68 | c.-2- others(85): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132767009 | CGGAGCTT others(61): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0144 | 1 | 204 | 0.0049 | -68 | c.977 others(85): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INTS9_chr8_28762661_28894969 | 28817723 | TGAATCTA others(61): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0067others(109): Show | 114 | 358 | 0.3184 | -68 | c.489 others(85): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 6/16 | chr8 | TogoVar | ||||||
| IQCG_chr3_197884077_197964991 | 197904023 | CATATATA others(61): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0128 | 1 | 280 | 0.0036 | -68 | c.963 others(85): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
| JAKMIP1_chr4_6021199_6205549 | 6038344 | GAGGTTAA others(61): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG02109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(20): Show | 23 | 233 | 0.0987 | -68 | c.217 others(87): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
| JAKMIP1_chr4_6021199_6205549 | 6038371 | TGAGGCAG others(61): Show |
T | intron_variant | MODIFIER | HG03486.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0201a0001c0003t0001g0152 | 2 | 233 | 0.0086 | -68 | c.217 others(87): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
| KCNH7_chr2_162366407_162843767 | 162752910 | AAAGAAAA others(61): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 100 | 0.0100 | -68 | c.307 others(87): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528736 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0056a0001c0001t0009g0057 | 2 | 80 | 0.0250 | -68 | c.61+ others(87): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528744 | AAAGAAAG others(61): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA18948.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0044a0001c0002t0004g0071 | 2 | 80 | 0.0250 | -68 | c.61+ others(87): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNJ6_chr21_37602373_37921457 | 37757144 | CCTCACAG others(61): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01358.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0001t0085a0001c0001t0102others(8): Show | a0001c0001t0023g0161a0001c0001t0085g0169a0001c0001t0102g0107others(8): Show | 11 | 198 | 0.0556 | -68 | c.26- others(85): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| KCNQ2_chr20_63395208_63477655 | 63404336 | TGGGGCCA others(61): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0070a0001c0004t0035a0001c0004t0069 | a0001c0002t0070g0171a0001c0004t0035g0163a0001c0004t0035g0206others(1): Show | 4 | 330 | 0.0121 | -68 | c.*22 others(79): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 17/17 | 2240 | chr20 | TogoVar | |||||
| KDM7A_chr7_140079746_140181983 | 140100660 | TTATATAT others(61): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0012 | a0008c0012t0039 | a0008c0012t0039g0213 | 1 | 344 | 0.0029 | -68 | c.163 others(85): Show |
KDM7A | ENSG00000006459.11 | transcript | ENST00000397560.7 | protein_coding | 12/19 | chr7 | TogoVar | ||||||
| KHDRBS2_chr6_61674961_62291225 | 61954808 | ATACGCAT others(61): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025a0001c0003t0003g0026 | 2 | 244 | 0.0082 | -68 | c.483 others(87): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
| KHDRBS2_chr6_61674961_62291225 | 61955461 | TATGTGTA others(61): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01928.hp2 HG01952.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0003others(1): Show | a0001c0001t0001g0114a0001c0002t0003g0143a0001c0002t0003g0147others(14): Show | 17 | 244 | 0.0697 | -68 | c.483 others(87): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
| KHDRBS3_chr8_135452456_135652610 | 135599997 | CCTCACAG others(61): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 342 | 0.0029 | -68 | c.808 others(85): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| KIF1A_chr2_240708767_240825219 | 240780780 | ACACACAC others(61): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0029 | 1 | 330 | 0.0030 | -68 | c.882 others(85): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240786702 | GCATCAGG others(61): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0024 | a0001c0024t0007 | a0001c0024t0007g0131a0001c0024t0007g0132 | 2 | 330 | 0.0061 | -68 | c.430 others(83): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168002200 | GGAGAAGA others(61): Show |
G | intron_variant | MODIFIER | HG02886.hp1 NA18906.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0042a0007c0009t0043 | a0001c0001t0042g0260a0007c0009t0043g0259 | 2 | 375 | 0.0053 | -68 | c.-36 others(85): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| KIF25_chr6_167992671_168050091 | 168002219 | ATAGCCTC others(61): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG04199.hp2 NA20805.hp2 |
a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0139a0001c0006t0019g0140a0001c0006t0019g0141 | 3 | 375 | 0.0080 | -68 | c.-36 others(85): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |