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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR51T1_chr11_4876900_4887883 | 4886717 | C | CAAAAGAC others(235): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 426 | 0.0024 | 242 | c.*38 others(253): Show |
OR51T1 | ENSG00000176900.2 | transcript | ENST00000322049.1 | protein_coding | 3835 | chr11 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(235): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 400 | 0.0025 | 242 | c.*70 others(253): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999558 | T | TATAAAAC others(235): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 188 | 0.0053 | 242 | c.330 others(263): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999558 | T | TATAAAAC others(235): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0117 | 1 | 188 | 0.0053 | 242 | c.330 others(263): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999558 | T | TATAAAAC others(235): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02895.hp2 others(1): Show |
a0001a0009 | a0001c0016a0009c0006a0009c0031 | a0001c0016t0010a0009c0006t0010a0009c0031t0025 | a0001c0016t0010g0143a0009c0006t0010g0006a0009c0006t0010g0007others(1): Show | 4 | 188 | 0.0213 | 242 | c.330 others(263): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999583 | T | TATAAAAC others(235): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 | 1 | 188 | 0.0053 | 242 | c.330 others(263): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999634 | T | TATAAAAC others(235): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0134 | 1 | 188 | 0.0053 | 242 | c.330 others(263): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(235): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0019a0001c0058 | a0001c0019t0001a0001c0019t0003a0001c0058t0005 | a0001c0019t0001g0306a0001c0019t0003g0303a0001c0058t0005g0307 | 3 | 336 | 0.0089 | 242 | c.-37 others(253): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 660975 | A | AGTTGGAT others(235): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 308 | 0.0033 | 242 | c.161 others(259): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6B_chr4_620573_675782 | 660975 | A | AGTTGGAT others(235): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0009 | a0001c0001t0001g0099a0001c0009t0009g0050a0001c0009t0009g0263others(1): Show | 4 | 308 | 0.0130 | 242 | c.161 others(259): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6B_chr4_620573_675782 | 660975 | A | AGTTGGAT others(235): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02280.hp1 others(11): Show |
a0001a0009a0010 | a0001c0001a0001c0008a0009c0020others(1): Show | a0001c0001t0002a0001c0008t0002a0009c0020t0002others(1): Show | a0001c0001t0002g0115a0001c0001t0002g0116a0001c0001t0002g0118others(11): Show | 14 | 308 | 0.0455 | 242 | c.161 others(259): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(235): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02886.hp2 HG03017.hp1 others(5): Show |
a0002a0004a0005 | a0002c0016a0004c0003a0004c0020others(2): Show | a0002c0016t0001a0004c0003t0001a0004c0003t0002others(3): Show | a0002c0016t0001g0186a0004c0003t0001g0067a0004c0003t0001g0081others(5): Show | 8 | 206 | 0.0388 | 242 | c.844 others(261): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(235): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 206 | 0.0049 | 242 | c.844 others(261): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(235): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 358 | 0.0084 | 242 | c.*44 others(253): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
PEX26_chr22_18072990_18110396 | 18106531 | T | TGAGTCTG others(235): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0001 | 1 | 398 | 0.0025 | 242 | c.*18 others(255): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1136 | chr22 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(235): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 376 | 0.0027 | 242 | c.122 others(257): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(235): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 376 | 0.0027 | 242 | c.122 others(257): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 280677 | G | GGGGAGGC others(235): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0071 | 1 | 176 | 0.0057 | 242 | c.-10 others(253): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 703 | chrX | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 164748 | T | TCACACAG others(235): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0024 | a0008c0024t0021 | a0008c0024t0021g0175 | 1 | 210 | 0.0048 | 242 | c.347 others(261): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(235): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 286 | 0.0105 | 242 | c.-50 others(253): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(235): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0015g0025 | 9 | 286 | 0.0315 | 242 | c.-50 others(253): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(235): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 286 | 0.0035 | 242 | c.-50 others(253): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50381366 | C | CCACACGG others(235): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0205 | 1 | 340 | 0.0029 | 242 | c.-17 others(259): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PTDSS2_chr11_445279_496399 | 459097 | G | GACACACT others(235): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0161 | 1 | 346 | 0.0029 | 242 | c.183 others(259): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PTPRM_chr18_7562316_8411856 | 7692218 | T | TGGAGGAT others(235): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0024 | 1 | 80 | 0.0125 | 242 | c.74- others(259): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PXDN_chr2_1626887_1749515 | 1679630 | G | GTGTGTGT others(235): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0146 | 1 | 322 | 0.0031 | 242 | c.730 others(257): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1679823 | T | TGTGTGTG others(235): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 322 | 0.0031 | 242 | c.730 others(257): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 7/22 | chr2 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467724 | C | CTCAGGGA others(235): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 295 | 0.0034 | 242 | c.809 others(259): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 467762 | A | AGGGGCGT others(235): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01952.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017a0001c0001t0048others(1): Show | a0001c0001t0007g0053a0001c0001t0017g0061a0001c0001t0017g0087others(2): Show | 5 | 295 | 0.0170 | 242 | c.809 others(259): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 467894 | A | AGGGGCGT others(235): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0085 | 1 | 295 | 0.0034 | 242 | c.809 others(259): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAD17_chr5_69364818_69419801 | 69377646 | T | TGCATATA others(235): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 359 | 0.0028 | 242 | c.351 others(259): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 6/18 | chr5 | TogoVar | ||||||
RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCCTC others(235): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059a0001c0001t0002g0096 | 2 | 354 | 0.0057 | 242 | c.365 others(257): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RIPOR3_chr20_50581108_50696542 | 50666183 | A | ATTTCTTT others(235): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02083.hp1 NA18983.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0028others(2): Show | 5 | 280 | 0.0179 | 242 | c.3+2 others(257): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
RIPOR3_chr20_50581108_50696542 | 50666193 | T | TTTTTCTT others(235): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0106a0002c0002t0002g0099 | 2 | 280 | 0.0071 | 242 | c.3+2 others(257): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(235): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 408 | 0.0025 | 242 | c.182 others(259): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTAGATAG others(235): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 426 | 0.0024 | 242 | c.*22 others(253): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTATATAG others(235): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 426 | 0.0024 | 242 | c.*22 others(253): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(235): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 426 | 0.0024 | 242 | c.*22 others(253): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | ||||||
RNF220_chr1_44400255_44656723 | 44475801 | C | CAAGAGAT others(235): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 218 | 0.0046 | 242 | c.625 others(261): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RORA_chr15_60483284_61234302 | 60984938 | T | TAGAAGAT others(235): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0086 | 1 | 118 | 0.0085 | 242 | c.166 others(263): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679372 | T | TACATGTT others(235): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG02080.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0078a0001c0001t0001g0079a0001c0001t0001g0080others(9): Show | 12 | 308 | 0.0390 | 242 | c.-75 others(261): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158229108 | G | GTGTATAT others(235): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0080 | 2 | 276 | 0.0073 | 242 | c.494 others(261): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RSRC1_chr3_158105089_158550730 | 158229108 | G | GTGTATAT others(235): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 1 | 276 | 0.0036 | 242 | c.494 others(261): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(235): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0249 | 1 | 376 | 0.0027 | 242 | c.-58 others(249): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(235): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG02300.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0216a0001c0003t0002g0256a0001c0003t0002g0257 | 3 | 376 | 0.0080 | 242 | c.-58 others(249): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179550512 | T | TGCCCGCC others(235): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0241 | 1 | 376 | 0.0027 | 242 | c.-58 others(249): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 41 | chr5 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669148 | C | CTCCCTCT others(235): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0050 | a0003c0050t0002 | a0003c0050t0002g0007 | 1 | 262 | 0.0038 | 242 | c.249 others(261): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780122 | C | CACACATA others(235): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01891.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003a0001c0003t0001g0003 | 2 | 330 | 0.0061 | 242 | c.-32 others(253): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3050 | chrX | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288636 | T | TGCTCCGT others(235): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 290 | 0.0035 | 242 | c.166 others(259): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243480681 | G | GGGATGGA others(235): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18522.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0023a0005c0008t0001g0128 | 2 | 189 | 0.0106 | 242 | c.198 others(261): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |