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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195787666 | G | GCTGAGGA others(1001): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00738.hp1 HG01070.hp2 others(7): Show |
a0001a0042a0046others(3): Show | a0001c0003a0001c0074a0042c0055others(4): Show | a0001c0003t0001a0001c0074t0001a0042c0055t0001others(4): Show | a0001c0003t0001g0022 a0001c0003t0001g0027 a0001c0003t0001g0047 others(7): Show |
10 | 226 | 0.0442 | 1008 | c.391 others(1017): Show |
p.Ser others(1023): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4025/16756 | 3913/16239 | 1305/5412 | chr3 | TogoVar | |||
MYBL2_chr20_43662114_43721482 | 43696486 | A | ACTGGGAT others(1001): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 HG02896.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 a0002c0003t0001g0015 a0002c0003t0001g0016 others(1): Show |
4 | 85 | 0.0471 | 1008 | c.664 others(1025): Show |
MYBL2 | ENSG00000101057.16 | transcript | ENST00000217026.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(1001): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 326 | 0.0031 | 1008 | c.-40 others(1019): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050237 | T | TCCCTACC others(1001): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 166 | 0.0060 | 1008 | c.-42 others(1019): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4061 | chr9 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79257424 | A | ATGGTGGT others(1001): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0014 | 1 | 21 | 0.0476 | 1008 | c.326 others(1031): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1001): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 1008 | c.*31 others(1019): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1001): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 1008 | c.*31 others(1019): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(1001): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 148 | 0.0068 | 1008 | c.292 others(1023): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166181 | A | AGCTCACA others(1001): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0028 | a0028c0058 | a0028c0058t0039 | a0028c0058t0039g0157 | 1 | 167 | 0.0060 | 1008 | c.347 others(1027): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166181 | A | AGCTCACA others(1001): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0019 | a0019c0030 | a0019c0030t0038 | a0019c0030t0038g0139 | 1 | 167 | 0.0060 | 1008 | c.347 others(1027): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1001): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 67 | 0.0149 | 1008 | c.306 others(1027): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162642 | T | TCACATCC others(1001): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 78 | 0.0128 | 1008 | c.260 others(1023): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273576 | G | GTCAGGGA others(1001): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 59 | 0.0169 | 1008 | c.438 others(1025): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(1001): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | 11 | 0.1818 | 1008 | c.-48 others(1019): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(1001): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG02148.hp1 HG03209.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0024 |
8 | 17 | 0.4706 | 1008 | c.-48 others(1019): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382282 | T | TGGTGATA others(1001): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 2 | 412 | 0.0049 | 1008 | c.-48 others(1019): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4820 | chr20 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1001): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0132 | 1 | 3 | 0.3333 | 1008 | c.29- others(1023): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1001): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0062 | a0001c0001t0004g0195 a0001c0001t0062g0120 |
2 | 4 | 0.5000 | 1008 | c.29- others(1023): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1001): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0004g0005 a0001c0001t0004g0153 a0001c0001t0004g0160 others(5): Show |
9 | 11 | 0.8182 | 1008 | c.29- others(1023): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1001): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0188 a0001c0001t0013g0197 |
2 | 4 | 0.5000 | 1008 | c.29- others(1023): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1001): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0056others(1): Show | a0001c0001t0003g0166 a0001c0001t0008g0037 a0001c0001t0056g0143 others(1): Show |
4 | 6 | 0.6667 | 1008 | c.29- others(1023): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1001): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0315 | 1 | 259 | 0.0039 | 1008 | c.101 others(1027): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1001): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0002 | a0002c0010 | a0002c0010t0008 | a0002c0010t0008g0028 | 2 | 225 | 0.0089 | 1008 | c.107 others(1025): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1001): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0056 | 1 | 149 | 0.0067 | 1008 | c.*73 others(1019): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(1001): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 31 | 0.0323 | 1008 | c.638 others(1023): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377496 | T | TCTGTGCC others(1001): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0219 | 1 | 263 | 0.0038 | 1008 | c.-15 others(1019): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115828 | G | GGCGAAGG others(1001): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0046 | 1 | 408 | 0.0025 | 1008 | c.227 others(1027): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TMC6_chr17_78102397_78133755 | 78115849 | G | AGCGAAGG others(1001): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 402 | 0.0025 | 1008 | c.227 others(1027): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1001): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 361 | 0.0028 | 1008 | c.-23 others(1025): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TTLL7_chr1_83860024_84004132 | 83964172 | T | TAAAATAA others(1001): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 300 | 0.0033 | 1008 | c.-17 others(1029): Show |
TTLL7 | ENSG00000137941.17 | transcript | ENST00000260505.13 | protein_coding | 1/20 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028754 | C | CCCCCACA others(1001): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0083 | 1 | 206 | 0.0049 | 1008 | c.225 others(1027): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370472 | C | CGTGTGTG others(1001): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0365 a0002c0002t0005g0367 |
2 | 369 | 0.0054 | 1008 | c.-6- others(1023): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917280 | C | CTCGGAGG others(1001): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 335 | 0.0030 | 1008 | c.218 others(1025): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1728700 | T | TTCCCAGC others(1001): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18995.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0036 | 2 | 429 | 0.0047 | 1008 | c.366 others(1025): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(1001): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0239 a0001c0002t0004g0242 a0001c0002t0004g0253 |
3 | 182 | 0.0165 | 1008 | c.97+ others(1023): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
ZNF99_chr19_22747183_22789151 | 22757594 | T | TGCTTAAA others(1001): Show |
conservative_inframe_insertion | MODERATE | HG03195.hp2 | a0016 | a0016c0010 | a0016c0010t0034 | a0016c0010t0034g0268 | 1 | 342 | 0.0029 | 1008 | c.231 others(1017): Show |
p.Arg others(13): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 2449/7861 | 2314/2595 | 772/864 | chr19 | TogoVar | |||
ADAMTS17_chr15_99966437_100346975 | 100276383 | A | AATGGGAG others(1002): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19058.hp1 NA19064.hp2 |
a0002a0004 | a0002c0001a0002c0011a0004c0028 | a0002c0001t0005a0002c0011t0064a0004c0028t0001 | a0002c0001t0005g0108 a0002c0011t0064g0226 a0004c0028t0001g0155 |
3 | 196 | 0.0153 | 1009 | c.789 others(1026): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1002): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 8 | 0.1250 | 1009 | c.285 others(1028): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1002): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 8 | 0.1250 | 1009 | c.285 others(1028): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1002): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 8 | 0.1250 | 1009 | c.285 others(1028): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1002): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 97 | 0.0103 | 1009 | c.245 others(1026): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGTGTGGG others(1002): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 90 | 0.0111 | 1009 | c.268 others(1028): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(1002): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02080.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0002g0071 a0001c0001t0005g0011 a0001c0001t0005g0030 others(10): Show |
13 | 46 | 0.2826 | 1009 | c.55+ others(1028): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
MAN1A2_chr1_117362449_117533872 | 117429525 | C | CAGAGGGG others(1002): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0040 | 1 | 225 | 0.0044 | 1009 | c.855 others(1026): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1002): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0010 | a0005c0010t0004 | a0005c0010t0004g0214 | 1 | 125 | 0.0080 | 1009 | c.-49 others(1020): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(1002): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0023 | a0001c0023t0004 | a0001c0023t0004g0227 | 1 | 8 | 0.1250 | 1009 | c.115 others(1026): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370388 | C | CCCCTACC others(1002): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 246 | 0.0041 | 1009 | c.-8+ others(1022): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1002): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0113 | 1 | 6 | 0.1667 | 1009 | c.-8+ others(1022): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1002): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 6 | 0.1667 | 1009 | c.-8+ others(1022): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1002): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 2 | 0.5000 | 1009 | c.273 others(1024): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar |