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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0181 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0276 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0065 | 1 | 285 | 0.0035 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925861 | A | ATGGATGG others(821): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 322 | 0.0031 | 828 | c.666 others(845): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322587 | A | ATGGAATA others(821): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 256 | 0.0039 | 828 | c.-24 others(839): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2382 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599452 | G | GCCGTCCG others(821): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0009 | a0009c0011 | a0009c0011t0003 | a0009c0011t0003g0043 | 1 | 145 | 0.0069 | 828 | c.369 others(845): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(821): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02630.hp1 HG02970.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0007a0006c0011t0023 | a0001c0001t0001g0146 a0001c0001t0007g0061 a0006c0011t0023g0318 |
3 | 105 | 0.0286 | 828 | c.103 others(845): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(821): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0031 | 1 | 34 | 0.0294 | 828 | c.55+ others(847): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(821): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 828 | c.-27 others(839): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 954024 | C | CCAAACCA others(821): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0290 | 1 | 282 | 0.0035 | 828 | c.503 others(843): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(821): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 348 | 0.0029 | 828 | c.-29 others(839): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACGCTT others(821): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 242 | 0.0041 | 828 | c.129 others(847): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01081.hp1 others(9): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0016a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0002g0239 others(9): Show |
12 | 17 | 0.7059 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0095 a0001c0001t0004g0137 |
2 | 7 | 0.2857 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(821): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 6 | 0.1667 | 828 | c.100 others(847): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876946 | T | TGGAGGTT others(821): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0185 | 1 | 175 | 0.0057 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAGGTT others(821): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0194 | 1 | 214 | 0.0047 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877256 | G | GATTATGG others(821): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 265 | 0.0038 | 828 | c.224 others(847): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(821): Show |
intron_variant | MODIFIER | NA18991.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0215 |
2 | 148 | 0.0135 | 828 | c.315 others(845): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(821): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0129 | 1 | 218 | 0.0046 | 828 | c.159 others(845): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(821): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 210 | 0.0048 | 828 | c.-5+ others(843): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(821): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0269 a0001c0001t0002g0268 a0001c0001t0005g0267 |
3 | 212 | 0.0142 | 828 | c.-5+ others(843): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(821): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 4 | 0.2500 | 828 | c.270 others(843): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535562 | G | GGTGGGTC others(821): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0049 | 1 | 314 | 0.0032 | 828 | c.140 others(845): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(821): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 237 | 0.0042 | 828 | c.140 others(845): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(821): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 326 | 0.0031 | 828 | c.-40 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(821): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 288 | 0.0035 | 828 | c.-40 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0064 |
3 | 253 | 0.0119 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0065 |
2 | 252 | 0.0079 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050236 | G | GCCCCTAC others(821): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 288 | 0.0035 | 828 | c.-42 others(839): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4060 | chr9 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(821): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 182 | 0.0055 | 828 | c.-26 others(839): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(821): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 248 | 0.0040 | 828 | c.*35 others(839): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585208 | T | TGCCCTTT others(821): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0002a0009 | a0002c0002a0009c0015 | a0002c0002t0001a0009c0015t0001 | a0002c0002t0001g0073 a0002c0002t0001g0105 a0002c0002t0001g0254 others(2): Show |
6 | 272 | 0.0221 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585382 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 278 | 0.0036 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585405 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02040.hp2 HG02074.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0188 others(5): Show |
8 | 251 | 0.0319 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0189 | 1 | 13 | 0.0769 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03831.hp2 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 a0002c0002t0001g0193 a0002c0002t0001g0257 |
3 | 15 | 0.2000 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(821): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0094 | 1 | 13 | 0.0769 | 828 | c.215 others(845): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(821): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0299 | 1 | 24 | 0.0417 | 828 | c.371 others(845): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(821): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0033 | a0033c0073 | a0033c0073t0021 | a0033c0073t0021g0185 | 1 | 140 | 0.0071 | 828 | c.*48 others(839): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325107 | A | AGTGAGAG others(821): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0156 | 1 | 358 | 0.0028 | 828 | c.194 others(845): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 475247 | G | GTACGGAC others(821): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 220 | 0.0045 | 828 | c.367 others(845): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 475247 | G | GTACGGAC others(821): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0098 |
2 | 221 | 0.0090 | 828 | c.367 others(845): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 475247 | G | GTACGGAC others(821): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 220 | 0.0045 | 828 | c.367 others(845): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 475247 | G | GTACGGAC others(821): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0036 others(43): Show |
49 | 268 | 0.1828 | 828 | c.367 others(845): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |