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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RGPD5_chr2_109789305_109862705 | 109794573 | A | ACCCGGCC others(437): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0012 | a0012c0007 | a0012c0007t0005 | a0012c0007t0005g0007 | 1 | 40 | 0.0250 | 444 | c.72+ others(455): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124483108 | T | TATTATTT others(437): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 408 | 0.0025 | 444 | c.182 others(461): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTAGATAG others(437): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 426 | 0.0024 | 444 | c.*22 others(455): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(437): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 133 | 0.0075 | 444 | c.351 others(463): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(437): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 276 | 0.0036 | 444 | c.494 others(463): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTGTTTAT others(437): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 332 | 0.0030 | 444 | c.632 others(461): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430203 | T | TTGTTTAT others(437): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 332 | 0.0030 | 444 | c.632 others(461): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1099474 | G | GCCCGACC others(437): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0071 | 1 | 118 | 0.0085 | 444 | c.125 others(461): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(437): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0295 | 1 | 346 | 0.0029 | 444 | c.-70 others(461): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(437): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0023 | 1 | 214 | 0.0047 | 444 | c.206 others(463): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(437): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0050 others(8): Show |
11 | 150 | 0.0733 | 444 | c.107 others(465): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(437): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0114 | 1 | 150 | 0.0067 | 444 | c.107 others(465): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1012911 | A | AGGATTTA others(437): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG03540.hp2 others(1): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0084 a0005c0006t0001g0081 a0005c0006t0001g0083 others(1): Show |
4 | 190 | 0.0211 | 444 | c.72+ others(461): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1013203 | T | TAGAGGGA others(437): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0082 | 1 | 190 | 0.0053 | 444 | c.72+ others(461): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827292 | C | CATATATT others(437): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 302 | 0.0033 | 444 | c.12+ others(459): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724748 | A | ATGGTGGT others(437): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0007a0001c0009t0051 | a0001c0005t0007g0065 a0001c0009t0051g0042 |
2 | 168 | 0.0119 | 444 | c.261 others(461): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(437): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 251 | 0.0040 | 444 | c.*34 others(453): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167108995 | T | TATAAAAA others(437): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0074 | 1 | 144 | 0.0069 | 444 | c.190 others(463): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(437): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 444 | c.*64 others(455): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(437): Show |
downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 444 | c.*64 others(455): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
STMN3_chr20_63634712_63658424 | 63641853 | C | CGCCCAGT others(437): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 388 | 0.0026 | 444 | c.483 others(459): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
STMN3_chr20_63634712_63658424 | 63641853 | C | CGCCCAGT others(437): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 388 | 0.0026 | 444 | c.483 others(459): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
SUCO_chr1_172528150_172616833 | 172571917 | C | CGGGAGGG others(437): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 340 | 0.0059 | 444 | c.104 others(463): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 9/23 | chr1 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(437): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 a0001c0001t0004g0130 |
2 | 392 | 0.0051 | 444 | c.271 others(461): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(437): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0001g0054 others(5): Show |
8 | 392 | 0.0204 | 444 | c.271 others(461): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0261 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02155.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0024a0001c0003t0070 | a0001c0003t0008g0132 a0001c0003t0008g0136 a0001c0003t0024g0099 others(1): Show |
4 | 276 | 0.0145 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0117 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0139 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(437): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0113 | 1 | 276 | 0.0036 | 444 | c.-18 others(463): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629079 | A | AGGTGGGA others(437): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0001 | a0002c0001t0057 | a0002c0001t0057g0158 | 1 | 352 | 0.0028 | 444 | c.299 others(461): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(437): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0255 | 1 | 352 | 0.0028 | 444 | c.299 others(461): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273348 | G | GACCGCCA others(437): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 392 | 0.0026 | 444 | c.228 others(463): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376691 | T | TGTGCCCC others(437): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0028 | 1 | 370 | 0.0027 | 444 | c.-72 others(453): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 666 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377283 | C | CCCCTCTG others(437): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 370 | 0.0027 | 444 | c.-13 others(455): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1258 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747833 | G | GCTGGGGT others(437): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0223 | 1 | 314 | 0.0032 | 444 | c.189 others(459): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(437): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0024 | 2 | 388 | 0.0052 | 444 | c.-23 others(461): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(437): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 388 | 0.0026 | 444 | c.-23 others(461): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273442 | A | ATATATAT others(437): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 272 | 0.0037 | 444 | c.*30 others(455): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2329 | chr11 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044459 | A | ATAACCCC others(437): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 351 | 0.0029 | 444 | c.-49 others(455): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4891 | chr15 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370041 | A | ATGGGTGT others(437): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0374 | 1 | 468 | 0.0021 | 444 | c.-6- others(459): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(437): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0060 | 1 | 204 | 0.0049 | 444 | c.213 others(463): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126515485 | T | TACCACCT others(437): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 380 | 0.0026 | 444 | c.126 others(461): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169467 | T | TCCTCCCT others(437): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 115 | 0.0087 | 444 | c.*56 others(453): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 476 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467125 | G | GGGGAGGG others(437): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0083 | a0083c0100 | a0083c0100t0017 | a0083c0100t0017g0052 | 1 | 271 | 0.0037 | 444 | c.*74 others(453): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 616 | chrX | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(437): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18970.hp2 NA19007.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0034 a0006c0006t0008g0035 a0006c0006t0008g0036 others(1): Show |
4 | 246 | 0.0163 | 444 | c.53- others(457): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253209 | C | CCCCCTCC others(437): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0013 | a0003c0013t0012 | a0003c0013t0012g0157 | 1 | 246 | 0.0041 | 444 | c.53- others(457): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292527 | T | TGTGCCCG others(437): Show |
intron_variant | MODIFIER | HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 |
2 | 404 | 0.0050 | 444 | c.339 others(461): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |