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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(292): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 302 | 0.0033 | 299 | c.155 others(316): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(292): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 302 | 0.0033 | 299 | c.155 others(316): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(292): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 302 | 0.0033 | 299 | c.155 others(316): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811324 | T | TTTCCTTC others(292): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0076 | 1 | 178 | 0.0056 | 299 | c.773 others(314): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGGTT others(292): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0228 |
2 | 367 | 0.0055 | 299 | c.4-1 others(312): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGGTT others(292): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 367 | 0.0027 | 299 | c.4-1 others(312): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344665 | A | AGGGGGTT others(292): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 367 | 0.0027 | 299 | c.4-1 others(312): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46413025 | C | CGGGAGAG others(292): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0172 | 1 | 332 | 0.0030 | 299 | c.615 others(316): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46413145 | C | CGGGAGAG others(292): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 332 | 0.0030 | 299 | c.615 others(316): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46413205 | C | CGGGAGAG others(292): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 332 | 0.0030 | 299 | c.615 others(316): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(292): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 336 | 0.0030 | 299 | c.-37 others(310): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(292): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0008 | a0008c0030 | a0008c0030t0002 | a0008c0030t0002g0333 | 1 | 336 | 0.0030 | 299 | c.-37 others(310): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(292): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 | 1 | 336 | 0.0030 | 299 | c.-37 others(310): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(292): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0273 | 1 | 336 | 0.0030 | 299 | c.-37 others(310): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401346 | C | CTCCTCCC others(292): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0036 | 1 | 358 | 0.0028 | 299 | c.*44 others(310): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2627 | chr1 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585221 | T | TTGAGGTA others(292): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0178 | 1 | 279 | 0.0036 | 299 | c.215 others(316): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585234 | C | CCTTTCCA others(292): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02630.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0004 | a0003c0008t0004g0080 a0003c0008t0004g0081 a0003c0008t0004g0121 others(1): Show |
4 | 279 | 0.0143 | 299 | c.215 others(316): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 86033415 | T | TGCCAAGC others(292): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 358 | 0.0028 | 299 | c.131 others(316): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67550441 | G | GAAAAGAC others(292): Show |
intron_variant | MODIFIER | HG01257.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0169 a0001c0001t0009g0180 |
2 | 218 | 0.0092 | 299 | c.198 others(316): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6455724 | G | GGAGGGGA others(292): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0009 | a0001c0009t0072 | a0001c0009t0072g0017 | 1 | 218 | 0.0046 | 299 | c.262 others(314): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104211 | A | AAGGGGGA others(292): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0190 | 1 | 216 | 0.0046 | 299 | c.816 others(316): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | |||||||
PLIN3_chr19_4833341_4872667 | 4839823 | G | GCCAGGCT others(292): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 others(2): Show |
5 | 446 | 0.0112 | 299 | c.961 others(314): Show |
PLIN3 | ENSG00000105355.9 | transcript | ENST00000221957.9 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
POLR2M_chr15_57701714_57722557 | 57702490 | A | ACAGGAAA others(292): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02965.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0013 a0002c0003t0003g0038 |
4 | 404 | 0.0099 | 299 | c.-43 others(310): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 4223 | chr15 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131952858 | G | GGGTGTGT others(292): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 394 | 0.0025 | 299 | c.108 others(318): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806659 | C | CCACCATC others(292): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 |
a0001 | a0001c0001a0001c0043 | a0001c0001t0013a0001c0043t0013 | a0001c0001t0013g0150 a0001c0043t0013g0254 |
2 | 406 | 0.0049 | 299 | c.265 others(318): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855369 | A | ACACACAC others(292): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 252 | 0.0040 | 299 | c.114 others(318): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76716027 | A | AAAGAAGA others(292): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18981.hp1 |
a0005a0018 | a0005c0009a0018c0032 | a0005c0009t0001a0018c0032t0001 | a0005c0009t0001g0068 a0018c0032t0001g0037 |
2 | 240 | 0.0083 | 299 | c.757 others(316): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 6/18 | chr9 | TogoVar | |||||||
RAMACL_chr6_166578009_166591678 | 166581948 | G | GGGTGAGA others(292): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0000 | 1 | 442 | 0.0023 | 299 | c.*41 others(310): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1060 | chr6 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(292): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 452 | 0.0022 | 299 | c.757 others(314): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RER1_chr1_2386841_2410436 | 2401346 | C | CTCCTCCC others(292): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 354 | 0.0028 | 299 | c.365 others(314): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392142 | C | CCGTCAGT others(292): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 | 1 | 180 | 0.0056 | 299 | c.*52 others(310): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3990 | chr12 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547121 | A | ATTATTAT others(292): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 334 | 0.0030 | 299 | c.45- others(314): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIPOR3_chr20_50581108_50696542 | 50666223 | T | TTTTCTTT others(292): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 280 | 0.0036 | 299 | c.3+2 others(314): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166581948 | G | GGGTGAGA others(292): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 244 | 0.0041 | 299 | c.100 others(318): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80963656 | C | CTGCGGCC others(292): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0063 | a0002c0063t0020 | a0002c0063t0020g0001 | 1 | 196 | 0.0051 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963702 | G | GTGCGGCC others(292): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0086 | 1 | 196 | 0.0051 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963725 | C | CTGCGGCC others(292): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 196 | 0.0051 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963725 | C | CTGCGGCC others(292): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02273.hp2 others(2): Show |
a0001 | a0001c0002a0001c0030a0001c0042others(2): Show | a0001c0002t0040a0001c0030t0003a0001c0042t0055others(2): Show | a0001c0002t0040g0105 a0001c0030t0003g0115 a0001c0042t0055g0179 others(2): Show |
5 | 196 | 0.0255 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963725 | C | CTGCGGCC others(292): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0085 | 1 | 196 | 0.0051 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80963725 | C | CTGCGGCC others(292): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01978.hp2 HG03654.hp2 |
a0001 | a0001c0023a0001c0024a0001c0027 | a0001c0023t0002a0001c0024t0002a0001c0027t0096 | a0001c0023t0002g0049 a0001c0024t0002g0048 a0001c0027t0096g0060 |
3 | 196 | 0.0153 | 299 | c.394 others(316): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59750573 | T | TATCTATA others(292): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 172 | 0.0058 | 299 | c.242 others(316): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(292): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02602.hp1 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0167 others(2): Show |
5 | 210 | 0.0238 | 299 | c.899 others(314): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668580 | C | CACCCTCC others(292): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0035 | a0003c0035t0004 | a0003c0035t0004g0040 | 1 | 262 | 0.0038 | 299 | c.249 others(318): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284170 | G | GGGGGGGT others(292): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0267 | 1 | 290 | 0.0035 | 299 | c.464 others(312): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(292): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0006 | a0006c0014 | a0006c0014t0008 | a0006c0014t0008g0277 | 1 | 290 | 0.0035 | 299 | c.464 others(312): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCYGR2_chr2_227593893_227604255 | 227601500 | T | TAGATTTG others(292): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0000 | 1 | 469 | 0.0021 | 299 | c.*22 others(310): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 2246 | chr2 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(292): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 189 | 0.0053 | 299 | c.198 others(318): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(292): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 189 | 0.0053 | 299 | c.198 others(318): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERPINB6_chr6_2943159_2976567 | 2972360 | C | CAAGAAAC others(292): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 384 | 0.0026 | 299 | c.-83 others(308): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 794 | chr6 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166332580 | T | TGTGCTGC others(292): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 388 | 0.0026 | 299 | c.64- others(314): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 1/7 | chr6 | TogoVar |