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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HRK_chr12_116851144_116886441 | 116877327 | ATTACAGG others(44): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0055 | 1 | 366 | 0.0027 | -51 | c.*56 others(68): Show |
HRK | ENSG00000135116.9 | transcript | ENST00000257572.5 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
HSD17B6_chr12_56758324_56792790 | 56789341 | CAGCCGGG others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0174 | 2 | 360 | 0.0056 | -51 | c.*20 others(62): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1552 | chr12 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144318445 | TGGGATGG others(44): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 330 | 0.0030 | -51 | c.*41 others(62): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 3726 | chr8 | TogoVar | ||||||
HSPA1B_chr6_31822738_31835254 | 31829755 | TGTGTAAC others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0000 | 1 | 421 | 0.0024 | -51 | c.180 others(60): Show |
p.Cys others(13): Show |
HSPA1B | ENSG00000204388.7 | transcript | ENST00000375650.5 | protein_coding | 1/1 | 2019/2517 | 1806/1926 | 602/641 | chr6 | TogoVar | ||
HSPA4_chr5_133047013_133111449 | 133108877 | CGTCCGGG others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0067 | a0001c0001t0064g0018a0001c0001t0067g0017 | 2 | 364 | 0.0055 | -51 | c.*44 others(62): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2429 | chr5 | TogoVar | ||||||
HTR1E_chr6_86932528_87021679 | 87010280 | ACCTCCCG others(44): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0251 | 2 | 300 | 0.0067 | -51 | c.-18 others(70): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HTR3D_chr3_184026742_184044369 | 184034159 | GCAGAATT others(44): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA19240.hp1 |
a0011a0015 | a0011c0011a0015c0020 | a0011c0011t0001a0015c0020t0001 | a0011c0011t0001g0024a0015c0020t0001g0024 | 3 | 450 | 0.0067 | -51 | c.67- others(65): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
IBA57_chr1_228160804_228187257 | 228174450 | TGTGGGCG others(44): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0107 | 1 | 416 | 0.0024 | -51 | c.342 others(66): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFNLR1_chr1_24149168_24192289 | 24162725 | TTTCTTTC others(44): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0047a0001c0002t0001others(4): Show | a0001c0001t0001g0162a0001c0001t0001g0215a0001c0001t0001g0273others(9): Show | 15 | 396 | 0.0379 | -51 | c.368 others(68): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
IGF2BP2_chr3_185638130_185830042 | 185665497 | GAGGAGAA others(44): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0071a0001c0001t0001g0096a0001c0001t0001g0141others(1): Show | 4 | 216 | 0.0185 | -51 | c.120 others(70): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206781919 | AGTTATAT others(44): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 | 1 | 366 | 0.0027 | -51 | c.-14 others(72): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IL1RAPL1_chrX_28582446_29961718 | 28737140 | TCCTTCCT others(44): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 135 | 0.0074 | -51 | c.-24 others(70): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 1/10 | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761893 | CCTTCTCC others(44): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 141 | 0.0071 | -51 | c.82+ others(70): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL1RAPL2_chrX_104561199_105772829 | 104761899 | CCTTCTCC others(44): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 141 | 0.0071 | -51 | c.82+ others(70): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INAVA_chr1_200889900_200920742 | 200911058 | AAAAAAAG others(44): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(72): Show |
a0001a0007a0014 | a0001c0002a0001c0007a0007c0010others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(10): Show | a0001c0002t0002g0007a0001c0002t0002g0031a0001c0002t0002g0041others(32): Show | 75 | 424 | 0.1769 | -51 | c.960 others(66): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132606226 | AGGGTCCT others(44): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0002 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(4): Show | 7 | 204 | 0.0343 | -51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132717846 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0004t0001g0011a0001c0004t0001g0012a0001c0004t0002g0013others(5): Show | 8 | 204 | 0.0392 | -51 | c.647 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132718678 | GCCTGGGT others(44): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 204 | 0.0049 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132718911 | GCTGTCTT others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0001a0001c0005t0002a0001c0005t0018others(4): Show | a0001c0005t0001g0185a0001c0005t0001g0186a0001c0005t0002g0039others(6): Show | 9 | 204 | 0.0441 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132719379 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0199 | 1 | 204 | 0.0049 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132719430 | AGGGTTCT others(44): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0001a0001c0005t0002a0001c0005t0018others(4): Show | a0001c0005t0001g0185a0001c0005t0001g0186a0001c0005t0002g0039others(6): Show | 9 | 204 | 0.0441 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132720354 | AGGGTTCT others(44): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0002a0001c0006t0001a0001c0006t0008others(1): Show | a0001c0005t0002g0039a0001c0006t0001g0188a0001c0006t0008g0187others(1): Show | 4 | 204 | 0.0196 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132721599 | ACCTGGGT others(44): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0002 | a0001c0001t0011g0141a0002c0002t0002g0098 | 2 | 204 | 0.0098 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132721688 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0004t0001g0011a0001c0004t0001g0012a0001c0004t0002g0013others(5): Show | 8 | 204 | 0.0392 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INSC_chr11_15109923_15252208 | 15229965 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0002a0001c0013a0001c0018 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(3): Show | a0001c0002t0001g0145a0001c0002t0004g0006a0001c0002t0004g0141others(12): Show | 15 | 270 | 0.0556 | -51 | c.117 others(70): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577332 | ACATTGGC others(44): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01175.hp2 |
a0001a0013 | a0001c0003a0013c0024 | a0001c0003t0004a0013c0024t0001 | a0001c0003t0004g0174a0013c0024t0001g0201a0013c0024t0001g0203 | 3 | 416 | 0.0072 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577482 | ACGCATTG others(44): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0015 | a0001c0010t0009a0002c0015t0002 | a0001c0010t0009g0005a0002c0015t0002g0075a0002c0015t0002g0076others(1): Show | 4 | 416 | 0.0096 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577651 | TTGGCTGT others(44): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(106): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0030a0001c0034others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(54): Show | a0001c0001t0001g0343a0001c0001t0005g0028a0001c0001t0005g0041others(106): Show | 109 | 416 | 0.2620 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577773 | CTGTGTGC others(44): Show |
C | intron_variant | MODIFIER | HG04184.hp2 HG04204.hp1 NA18959.hp1 others(3): Show |
a0001a0012 | a0001c0003a0001c0026a0012c0023 | a0001c0003t0001a0001c0026t0001a0012c0023t0001 | a0001c0003t0001g0227a0001c0003t0001g0229a0001c0003t0001g0239others(3): Show | 6 | 416 | 0.0144 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577788 | ACGCATTG others(44): Show |
A | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0311 | 1 | 416 | 0.0024 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQGAP3_chr1_156520405_156577565 | 156554100 | TGAACAGA others(44): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 340 | 0.0029 | -51 | c.144 others(67): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 13/37 | chr1 | TogoVar | ||||||
IRAK3_chr12_66184214_66259622 | 66257990 | ATCAAATC others(44): Show |
A | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0145 | 1 | 346 | 0.0029 | -51 | c.*98 others(62): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 3369 | chr12 | TogoVar | ||||||
ISOC2_chr19_55447985_55466642 | 55450605 | AGAGAAGG others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(58): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0104a0001c0001t0001g0161others(19): Show | 61 | 380 | 0.1605 | -51 | c.*26 others(62): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2379 | chr19 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512009 | TTTTCTTT others(44): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0020 | a0001c0020t0002 | a0001c0020t0002g0007 | 1 | 168 | 0.0060 | -51 | c.898 others(68): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGB2_chr21_44880953_44925899 | 44914080 | AGGTGCCC others(44): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0038 | a0004c0038t0002 | a0004c0038t0002g0237 | 1 | 444 | 0.0023 | -51 | c.-3- others(66): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 1/15 | chr21 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(44): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0183 | 1 | 342 | 0.0029 | -51 | c.215 others(68): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105149950 | GGGGGTGG others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0109 | 1 | 364 | 0.0028 | -51 | c.160 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105149961 | GGAGGTGG others(44): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03471.hp1 HG03540.hp1 others(2): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0011a0004c0004t0001others(2): Show | a0001c0001t0001g0212a0002c0002t0011g0065a0004c0004t0001g0167others(2): Show | 5 | 364 | 0.0137 | -51 | c.160 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 12/25 | chr14 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105161798 | TCCCTGTC others(44): Show |
T | intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 364 | 0.0028 | -51 | c.418 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160184 | GGGTGGGC others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0122 | 1 | 158 | 0.0063 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160373 | GGTCTATT others(44): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0122 | 1 | 158 | 0.0063 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160431 | TCCTGTGT others(44): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0008 | 1 | 158 | 0.0063 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132161109 | TCTATTCC others(44): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0003 | a0001c0001t0008g0100a0001c0001t0008g0142a0001c0006t0003g0082others(1): Show | 4 | 158 | 0.0253 | -51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JUND_chr19_18274694_18286622 | 18285579 | AAGGGGTC others(44): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 408 | 0.0025 | -51 | c.-41 others(62): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 3958 | chr19 | TogoVar | ||||||
KCNQ4_chr1_40778787_40845452 | 40808007 | TGAGGCAG others(44): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032a0001c0002t0001g0033a0001c0002t0001g0034others(2): Show | 5 | 372 | 0.0134 | -51 | c.315 others(68): Show |
KCNQ4 | ENSG00000117013.17 | transcript | ENST00000347132.10 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
KCNQ5_chr6_72617064_73203853 | 72941326 | TTCCTTCC others(44): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG03834.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0013a0001c0001t0004g0020a0001c0001t0005g0074others(5): Show | 8 | 80 | 0.1000 | -51 | c.399 others(70): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KDM4C_chr9_6752973_7180648 | 6807891 | TGGGGGTG others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0182 | 1 | 266 | 0.0038 | -51 | c.320 others(68): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KHK_chr2_27081772_27105762 | 27101385 | GGCCTCTG others(44): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(111): Show | 310 | 324 | 0.9568 | -51 | c.*16 others(62): Show |
KHK | ENSG00000138030.14 | transcript | ENST00000260598.10 | protein_coding | 624 | chr2 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94529244 | ACATATAT others(44): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0015 | a0002c0015t0049 | a0002c0015t0049g0007 | 1 | 54 | 0.0185 | -51 | c.132 others(68): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 3/20 | chr5 | TogoVar | ||||||
KIF3C_chr2_25921598_25987497 | 25962923 | TATATAAT others(44): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0185 | 1 | 240 | 0.0042 | -51 | c.154 others(70): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar |