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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ICA1_chr7_8108184_8267167 | 8152813 | C | CACCACCA others(350): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0007 | a0002c0007t0013 | a0002c0007t0013g0001 | 1 | 274 | 0.0037 | 357 | c.804 others(374): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 105540854 | T | TTATATAT others(350): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0065 |
2 | 141 | 0.0142 | 357 | c.772 others(376): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INSIG2_chr2_118083471_118115997 | 118094092 | T | TGATGATG others(350): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0163 | 1 | 440 | 0.0023 | 357 | c.-13 others(376): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161592 | A | AGGACCCC others(350): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 376 | 0.0027 | 357 | c.-44 others(366): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 384 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(350): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 344 | 0.0029 | 357 | c.25- others(372): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(350): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 344 | 0.0029 | 357 | c.25- others(372): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077266 | A | AATATATA others(350): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03540.hp2 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001 | a0001c0001t0001g0068 a0006c0005t0001g0244 |
2 | 344 | 0.0058 | 357 | c.25- others(372): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87675909 | G | GCTCTGTA others(350): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 380 | 0.0026 | 357 | c.116 others(376): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KCNJ6_chr21_37602373_37921457 | 37757132 | G | GAGTGAGC others(350): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02897.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0043a0001c0001t0090others(2): Show | a0001c0001t0020g0023 a0001c0001t0043g0170 a0001c0001t0090g0157 others(2): Show |
5 | 198 | 0.0253 | 357 | c.26- others(374): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
KCNK2_chr1_215077737_215242090 | 215209559 | T | TATATATA others(350): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0106 | 1 | 260 | 0.0039 | 357 | c.963 others(376): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TCACCACC others(350): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0195 | 1 | 330 | 0.0030 | 357 | c.691 others(372): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67222609 | G | GTGGCCGG others(350): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0111 |
2 | 220 | 0.0091 | 357 | c.957 others(374): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67222609 | G | GTGGCCGG others(350): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 220 | 0.0046 | 357 | c.957 others(374): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549_chr7_138826381_138986389 | 138920145 | T | TTCTCACC others(350): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0005 | a0003c0005t0041 | a0003c0005t0041g0201 | 1 | 204 | 0.0049 | 357 | c.188 others(372): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATTTATA others(350): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0065 | 1 | 242 | 0.0041 | 357 | c.174 others(376): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(350): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 370 | 0.0027 | 357 | c.-27 others(368): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(350): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp1 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0028 others(2): Show |
11 | 370 | 0.0297 | 357 | c.-27 others(368): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(350): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 370 | 0.0027 | 357 | c.-27 others(368): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRTAP10-6_chr21_44586268_44597505 | 44591864 | T | TGAGGGCG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp2 | a0007 | a0007c0073 | a0007c0073t0004 | a0007c0073t0004g0000 | 1 | 428 | 0.0023 | 357 | c.620 others(364): Show |
p.Ser others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 641/1238 | 620/1098 | 207/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591870 | T | TGTGCAGG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(96): Show |
a0002a0007a0013others(8): Show | a0002c0002a0002c0005a0002c0025others(15): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(17): Show | a0002c0002t0002g0000 a0002c0005t0002g0000 a0002c0025t0002g0000 others(17): Show |
99 | 428 | 0.2313 | 357 | c.614 others(364): Show |
p.Thr others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 635/1238 | 614/1098 | 205/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591870 | T | TGTGCAGG others(350): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(1): Show |
a0017 | a0017c0018 | a0017c0018t0002 | a0017c0018t0002g0000 | 4 | 428 | 0.0094 | 357 | c.614 others(364): Show |
p.Thr others(370): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 635/1238 | 614/1098 | 205/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44592269 | A | ACAGACCG others(350): Show |
disruptive_inframe_insertion | MODERATE | NA19084.hp1 | a0047 | a0047c0039 | a0047c0039t0002 | a0047c0039t0002g0000 | 1 | 428 | 0.0023 | 357 | c.215 others(364): Show |
p.Cys others(368): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 236/1238 | 215/1098 | 72/365 | chr21 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(350): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 186 | 0.0054 | 357 | c.956 others(374): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LARP1B_chr4_128056312_128216988 | 128197863 | T | TAAGAAAA others(350): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0282 | 1 | 336 | 0.0030 | 357 | c.200 others(376): Show |
LARP1B | ENSG00000138709.20 | transcript | ENST00000326639.11 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471627 | T | TATTTATA others(350): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 260 | 0.0039 | 357 | c.125 others(374): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507131 | T | TGGGGGGT others(350): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0005 | 1 | 260 | 0.0039 | 357 | c.624 others(374): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610453 | T | TGCGGGTG others(350): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0215 | 1 | 260 | 0.0039 | 357 | c.717 others(374): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMBRD1_chr6_69669010_69802010 | 69683690 | T | TCAAGATA others(350): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0205 a0001c0001t0010g0206 |
2 | 348 | 0.0058 | 357 | c.141 others(376): Show |
LMBRD1 | ENSG00000168216.13 | transcript | ENST00000649934.3 | protein_coding | 14/15 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955126 | A | AAACCAGA others(350): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01081.hp1 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0005a0002c0007a0002c0054others(3): Show | a0001c0005t0001a0001c0005t0012a0002c0007t0001others(4): Show | a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 others(9): Show |
12 | 294 | 0.0408 | 357 | c.194 others(372): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1334046 | T | TCACCCCT others(350): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036 | 1 | 388 | 0.0026 | 357 | c.765 others(374): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGI1_chr3_65348526_66043918 | 65855620 | A | AGAGAGGG others(350): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 104 | 0.0096 | 357 | c.313 others(378): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MAGI1_chr3_65348526_66043918 | 65855633 | G | GACGGGGG others(350): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 104 | 0.0096 | 357 | c.313 others(378): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
MARCHF6_chr5_10348695_10445388 | 10422715 | T | TAAAGAAA others(350): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0164 | a0001c0004t0164g0164 | 1 | 284 | 0.0035 | 357 | c.228 others(376): Show |
MARCHF6 | ENSG00000145495.17 | transcript | ENST00000274140.10 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18116838 | A | AGGAGGCG others(350): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0148 | 1 | 296 | 0.0034 | 357 | c.162 others(374): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77117923 | T | TCAGTGGG others(350): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01099.hp1 HG01993.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0157 a0001c0001t0001g0196 a0001c0002t0001g0185 |
3 | 396 | 0.0076 | 357 | c.-25 others(376): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3587857 | C | CAGGAGGG others(350): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0064 | a0064c0113 | a0064c0113t0056 | a0064c0113t0056g0279 | 1 | 292 | 0.0034 | 357 | c.376 others(374): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3587857 | C | CAGGAGGG others(350): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(88): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0007a0001c0100others(35): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0047others(47): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(88): Show |
91 | 292 | 0.3116 | 357 | c.376 others(374): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3587857 | C | CAGGAGGG others(350): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 |
a0001a0054 | a0001c0001a0054c0099 | a0001c0001t0009a0054c0099t0052 | a0001c0001t0009g0202 a0054c0099t0052g0201 |
2 | 292 | 0.0069 | 357 | c.376 others(374): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(350): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 181 | 0.0055 | 357 | c.107 others(376): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910803 | C | CTTTCCTT others(350): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 181 | 0.0055 | 357 | c.107 others(376): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495666 | A | AGGTGGTG others(350): Show |
intron_variant | MODIFIER | HG03654.hp2 NA20752.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0016 | a0001c0002t0002g0100 a0001c0002t0016g0101 |
2 | 250 | 0.0080 | 357 | c.633 others(374): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75906507 | A | ATACAATA others(350): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0203 |
3 | 332 | 0.0090 | 357 | c.262 others(376): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | chr1 | TogoVar | |||||||
MXRA8_chr1_1347691_1363555 | 1351426 | G | GGAGGGGG others(350): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0005 | 1 | 338 | 0.0030 | 357 | c.*21 others(368): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1264 | chr1 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(350): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG02735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(4): Show |
7 | 223 | 0.0314 | 357 | c.289 others(374): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NECAP2_chr1_16435724_16465078 | 16446550 | T | TGACCCTG others(350): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 386 | 0.0026 | 357 | c.194 others(374): Show |
NECAP2 | ENSG00000157191.20 | transcript | ENST00000337132.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NHLRC4_chr16_562005_574495 | 571109 | C | CTGGCTAG others(350): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 424 | 0.0024 | 357 | c.*26 others(368): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1615 | chr16 | TogoVar | |||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(350): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 356 | 0.0028 | 357 | c.91+ others(370): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397707 | T | TGTGGGGG others(350): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0211 | 1 | 356 | 0.0028 | 357 | c.91+ others(370): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(350): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 356 | 0.0028 | 357 | c.91+ others(370): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGGGGGGG others(350): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 356 | 0.0028 | 357 | c.91+ others(370): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |