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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KREMEN1_chr22_29068035_29151820 | 29120082 | A | AACAGGGA others(2670): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0281 | 1 | 368 | 0.0027 | 2677 | c.353 others(2694): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MTG1_chr10_133389157_133427520 | 133397401 | T | TACCGGTC others(2670): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0242 | 1 | 428 | 0.0023 | 2677 | c.283 others(2694): Show |
MTG1 | ENSG00000148824.19 | transcript | ENST00000317502.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2670): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 383 | 0.0026 | 2677 | c.-28 others(2688): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2671): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0166 | 1 | 418 | 0.0024 | 2678 | c.96+ others(2693): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2671): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0202 | 1 | 316 | 0.0032 | 2678 | c.-30 others(2689): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2671): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0201 | 1 | 316 | 0.0032 | 2678 | c.-30 others(2689): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2671): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0061 | 1 | 294 | 0.0034 | 2678 | c.153 others(2697): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131680400 | C | CGTCTGTG others(2671): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 86 | 0.0116 | 2678 | c.83- others(2697): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2671): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0082 | 1 | 250 | 0.0040 | 2678 | c.-22 others(2697): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2671): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0067 | 1 | 362 | 0.0028 | 2678 | c.-18 others(2699): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2671): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0209 | 1 | 362 | 0.0028 | 2678 | c.-18 others(2699): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2671): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0002g0299a0001c0001t0005g0280a0001c0001t0012g0073others(4): Show | 7 | 362 | 0.0193 | 2678 | c.-18 others(2699): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2671): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 433 | 0.0023 | 2678 | c.-16 others(2689): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2672): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0247 | 1 | 418 | 0.0024 | 2679 | c.96+ others(2694): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721201 | C | CCCCCTCC others(2672): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0150 | 1 | 170 | 0.0059 | 2679 | c.642 others(2696): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(2672): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 346 | 0.0029 | 2679 | c.-76 others(2696): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2672): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0200a0001c0001t0006g0287 | 2 | 316 | 0.0063 | 2679 | c.-30 others(2690): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2672): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 2 | 316 | 0.0063 | 2679 | c.-30 others(2690): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2672): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 316 | 0.0032 | 2679 | c.-30 others(2690): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2672): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02148.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216a0001c0001t0003g0228a0001c0001t0003g0243 | 3 | 316 | 0.0095 | 2679 | c.-30 others(2690): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29097692 | T | TAAAAATT others(2672): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 368 | 0.0027 | 2679 | c.261 others(2696): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195760494 | G | GGGGCTGG others(2672): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0035a0056 | a0035c0151a0056c0142 | a0035c0151t0007a0056c0142t0007 | a0035c0151t0007g0186a0056c0142t0007g0006 | 2 | 249 | 0.0080 | 2679 | c.148 others(2698): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(2672): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 294 | 0.0034 | 2679 | c.902 others(2694): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168595092 | C | CGAGGGGC others(2672): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0179 | 2 | 180 | 0.0111 | 2679 | c.638 others(2696): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2672): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0279a0001c0001t0005g0081a0001c0001t0006g0286 | 3 | 362 | 0.0083 | 2679 | c.-18 others(2700): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2672): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136 | 1 | 362 | 0.0028 | 2679 | c.-18 others(2700): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2672): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0076 | 1 | 362 | 0.0028 | 2679 | c.-18 others(2700): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236714265 | T | TGTGTGTT others(2673): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 344 | 0.0029 | 2680 | c.127 others(2697): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDKL3_chr5_134293424_134372171 | 134319666 | T | TAAAAAAC others(2673): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 210 | 0.0048 | 2680 | c.653 others(2695): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 5/12 | chr5 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045 | 2 | 345 | 0.0058 | 2680 | c.*17 others(2691): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 345 | 0.0029 | 2680 | c.*17 others(2691): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0078 | 1 | 345 | 0.0029 | 2680 | c.*17 others(2691): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0025 | 2 | 421 | 0.0048 | 2680 | c.*22 others(2691): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2680 | c.*22 others(2691): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2673): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 421 | 0.0024 | 2680 | c.*22 others(2691): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0315 | 1 | 316 | 0.0032 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0199a0001c0001t0006g0204 | 2 | 316 | 0.0063 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 316 | 0.0032 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0226 | 1 | 316 | 0.0032 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0207a0001c0001t0003g0213a0001c0001t0003g0215others(6): Show | 9 | 316 | 0.0285 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0225 | 1 | 316 | 0.0032 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2673): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 316 | 0.0032 | 2680 | c.-30 others(2691): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2673): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 294 | 0.0034 | 2680 | c.153 others(2699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MTRFR_chr12_123228436_123262960 | 123246733 | T | TTGTTTGT others(2673): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 306 | 0.0033 | 2680 | c.-28 others(2697): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SETD2_chr3_47011436_47169113 | 47066704 | T | TAAGAATG others(2673): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 308 | 0.0033 | 2680 | c.610 others(2697): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 13/20 | chr3 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414475 | T | TGGGGGGC others(2673): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 373 | 0.0027 | 2680 | c.115 others(2697): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302522 | A | ATCACCTC others(2673): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037a0001c0001t0003g0161a0001c0001t0003g0290 | 3 | 350 | 0.0086 | 2680 | c.440 others(2697): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302522 | A | ATCACCTC others(2673): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112a0001c0001t0003g0284 | 2 | 350 | 0.0057 | 2680 | c.440 others(2697): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2673): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0326 | 1 | 362 | 0.0028 | 2680 | c.-18 others(2701): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2673): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 362 | 0.0028 | 2680 | c.-18 others(2701): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |