| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(749): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0109 | 1 | 326 | 0.0031 | 756 | c.358 others(773): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(749): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0010 | 1 | 384 | 0.0026 | 756 | c.160 others(773): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0002g0002 |
2 | 402 | 0.0050 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0128 |
3 | 402 | 0.0075 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01433.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0084 others(5): Show |
15 | 402 | 0.0373 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG01175.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0088 |
3 | 402 | 0.0075 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp1 others(14): Show |
a0001a0004a0017 | a0001c0001a0001c0015a0004c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0080 others(6): Show |
17 | 402 | 0.0423 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0097 others(1): Show |
4 | 402 | 0.0100 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 HG03654.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 402 | 0.0075 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050042 | G | GCCGCCAC others(749): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 402 | 0.0050 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3866 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050048 | A | ACCCGCCT others(749): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | 756 | c.-40 others(767): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3872 | chr9 | TogoVar | |||||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(749): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 268 | 0.0037 | 756 | c.292 others(771): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(749): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0036 | a0036c0044 | a0036c0044t0006 | a0036c0044t0006g0071 | 1 | 158 | 0.0063 | 756 | c.527 others(775): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(749): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 756 | c.-26 others(767): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(749): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 756 | c.-26 others(767): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(749): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 250 | 0.0040 | 756 | c.309 others(775): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(749): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 250 | 0.0040 | 756 | c.309 others(775): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(749): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01256.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(13): Show |
16 | 250 | 0.0640 | 756 | c.309 others(775): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(749): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03041.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 |
3 | 250 | 0.0120 | 756 | c.309 others(775): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113162345 | T | TCCCCACA others(749): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 378 | 0.0027 | 756 | c.260 others(771): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| PROZ_chr13_113153648_113177386 | 113162711 | G | GTCCCTGC others(749): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 378 | 0.0027 | 756 | c.260 others(771): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(749): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG01891.hp2 others(10): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0002a0002c0013t0002 | a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0029 others(5): Show |
13 | 364 | 0.0357 | 756 | c.*42 others(767): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
| RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(749): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(35): Show |
a0002a0005a0010 | a0002c0002a0005c0006a0010c0015 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0020 others(17): Show |
38 | 364 | 0.1044 | 756 | c.*42 others(767): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
| RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(749): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00621.hp2 others(37): Show |
a0002a0012a0013 | a0002c0003a0002c0017a0012c0014others(1): Show | a0002c0003t0002a0002c0003t0004a0002c0017t0002others(2): Show | a0002c0003t0002g0002 a0002c0003t0002g0009 a0002c0003t0002g0038 others(12): Show |
40 | 364 | 0.1099 | 756 | c.*42 others(767): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
| RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(749): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 364 | 0.0028 | 756 | c.*42 others(767): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
| RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(749): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 152 | 0.0066 | 756 | c.-26 others(767): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | |||||||
| RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(749): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00738.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038 a0001c0001t0002g0004 a0001c0001t0002g0005 others(35): Show |
38 | 152 | 0.2500 | 756 | c.-26 others(767): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | |||||||
| RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(749): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0170 | 1 | 312 | 0.0032 | 756 | c.188 others(775): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679049 | A | ATTTATTT others(749): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 308 | 0.0033 | 756 | c.-75 others(775): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7679076 | A | ATTTATTT others(749): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 308 | 0.0033 | 756 | c.-75 others(775): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPA3_chr7_7631518_7723607 | 7679103 | A | ATTTATTT others(749): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0213 a0001c0001t0003g0178 |
2 | 308 | 0.0065 | 756 | c.-75 others(775): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(749): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0016 | a0016c0012 | a0016c0012t0003 | a0016c0012t0003g0085 | 1 | 133 | 0.0075 | 756 | c.438 others(773): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(749): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0077 | 1 | 133 | 0.0075 | 756 | c.438 others(773): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| RTEL1_chr20_63653312_63701245 | 63693723 | A | ACCTCCAC others(749): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 60 | 0.0167 | 756 | c.299 others(773): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934861 | G | GCGTTACA others(749): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0011 | a0011c0024 | a0011c0024t0003 | a0011c0024t0003g0195 a0011c0024t0003g0196 |
2 | 434 | 0.0046 | 756 | c.843 others(771): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288793 | C | CCCCGTGT others(749): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 290 | 0.0035 | 756 | c.166 others(773): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(749): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0067 | a0002c0002t0067g0043 | 1 | 280 | 0.0036 | 756 | c.89- others(769): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432079 | G | GTGGACAG others(749): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0191 | 1 | 376 | 0.0027 | 756 | c.101 others(773): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432110 | A | ATAGGATG others(749): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0163 | 1 | 376 | 0.0027 | 756 | c.101 others(773): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC10A7_chr4_146248981_146526940 | 146286013 | T | TGTTTGGA others(749): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 a0001c0001t0003g0183 |
2 | 244 | 0.0082 | 756 | c.774 others(773): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1082000 | G | GGGCTTCC others(749): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0003a0001c0005a0001c0013others(4): Show | a0001c0003t0003a0001c0005t0013a0001c0013t0006others(5): Show | a0001c0003t0003g0014 a0001c0005t0013g0077 a0001c0013t0006g0017 others(5): Show |
8 | 118 | 0.0678 | 756 | c.113 others(773): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1082000 | G | GGGCTTCC others(749): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp2 HG03491.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0034others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0006t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0095 a0001c0001t0001g0108 others(9): Show |
12 | 118 | 0.1017 | 756 | c.113 others(773): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1082000 | G | GGGCTTCC others(749): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02273.hp2 HG02451.hp2 others(1): Show |
a0002 | a0002c0008a0002c0016a0002c0023 | a0002c0008t0004a0002c0016t0001a0002c0016t0010others(1): Show | a0002c0008t0004g0080 a0002c0016t0001g0057 a0002c0016t0010g0082 others(1): Show |
4 | 118 | 0.0339 | 756 | c.113 others(773): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
| SLC24A3_chr20_19207642_19727926 | 19663441 | T | TCCACTTC others(749): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0018 | a0002c0018t0015 | a0002c0018t0015g0064 | 1 | 160 | 0.0063 | 756 | c.688 others(773): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(749): Show |
upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0288 | 1 | 352 | 0.0028 | 756 | c.-12 others(767): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar |