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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(996): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 312 | 0.0032 | 1003 | c.306 others(1022): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(996): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 67 | 0.0149 | 1003 | c.159 others(1020): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(996): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01884.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(7): Show | a0001c0001t0003g0080a0001c0001t0008g0125a0001c0001t0009g0098others(12): Show | 15 | 232 | 0.0647 | 1003 | c.29- others(1018): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1148929 | T | TCACCCCA others(996): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187a0001c0004t0001g0188 | 2 | 203 | 0.0099 | 1003 | c.167 others(1018): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2176727 | A | ATTTTTTT others(996): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19003.hp1 NA19005.hp2 |
a0001a0002 | a0001c0009a0002c0002a0002c0004 | a0001c0009t0001a0002c0002t0001a0002c0004t0001 | a0001c0009t0001g0221a0002c0002t0001g0108a0002c0004t0001g0059 | 3 | 316 | 0.0095 | 1003 | c.425 others(1022): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(996): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0097 | 1 | 322 | 0.0031 | 1003 | c.597 others(1020): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(996): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 258 | 0.0039 | 1003 | c.113 others(1022): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(996): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0209 | 1 | 258 | 0.0039 | 1003 | c.113 others(1022): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1273495 | G | GACCGCCA others(996): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 392 | 0.0026 | 1003 | c.228 others(1022): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(996): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0035 | a0001c0035t0032 | a0001c0035t0032g0061 | 1 | 128 | 0.0078 | 1003 | c.143 others(1024): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(996): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0079 | 1 | 94 | 0.0106 | 1003 | c.79+ others(1020): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(996): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 94 | 0.0106 | 1003 | c.79+ others(1020): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(996): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0207 | 1 | 382 | 0.0026 | 1003 | c.728 others(1020): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(996): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 | 1 | 338 | 0.0030 | 1003 | c.*35 others(1022): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0285a0001c0002t0003g0289a0001c0002t0005g0299 | 3 | 314 | 0.0096 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0259 | 1 | 314 | 0.0032 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0292 | 1 | 314 | 0.0032 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0191 | 1 | 314 | 0.0032 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01123.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005 | a0001c0002t0003g0288a0001c0002t0003g0291a0001c0002t0003g0294others(2): Show | 5 | 314 | 0.0159 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(177): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(172): Show | 180 | 314 | 0.5733 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(996): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0233 | 1 | 314 | 0.0032 | 1003 | c.97+ others(1018): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(997): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0261 | 1 | 306 | 0.0033 | 1004 | c.130 others(1023): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(997): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 306 | 0.0033 | 1004 | c.130 others(1023): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(997): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0109 | 1 | 169 | 0.0059 | 1004 | c.48- others(1021): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(997): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0208 | 1 | 238 | 0.0042 | 1004 | c.787 others(1019): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(997): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 318 | 0.0031 | 1004 | c.285 others(1023): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(997): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 391 | 0.0026 | 1004 | c.*36 others(1015): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(997): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 142 | 0.0070 | 1004 | c.245 others(1021): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111326051 | T | TTTTGTTT others(997): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0057 | 1 | 100 | 0.0100 | 1004 | c.292 others(1023): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14211748 | A | ATTTACTC others(997): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 148 | 0.0068 | 1004 | c.212 others(1025): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(997): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 292 | 0.0034 | 1004 | c.228 others(1021): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(997): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0184 | 1 | 292 | 0.0034 | 1004 | c.228 others(1021): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(997): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 NA19007.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0242a0002c0003t0002g0281 | 2 | 369 | 0.0054 | 1004 | c.-50 others(1015): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | ||||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(997): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 275 | 0.0036 | 1004 | c.278 others(1023): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(997): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0134 | 1 | 386 | 0.0026 | 1004 | c.-46 others(1015): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(997): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0067 | 1 | 318 | 0.0031 | 1004 | c.-49 others(1015): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(997): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0023 | a0001c0023t0004 | a0001c0023t0004g0183 | 1 | 278 | 0.0036 | 1004 | c.115 others(1021): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NXN_chr17_794310_984776 | 841445 | C | CCCCCGAC others(997): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 242 | 0.0041 | 1004 | c.361 others(1023): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492362 | T | TCCCGGGG others(997): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0122 | 1 | 295 | 0.0034 | 1004 | c.126 others(1023): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 314680 | G | GCTCCACC others(997): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0100 | 1 | 133 | 0.0075 | 1004 | c.351 others(1021): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(997): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 324 | 0.0031 | 1004 | c.115 others(1021): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(997): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183a0001c0001t0002g0234 | 2 | 420 | 0.0048 | 1004 | c.107 others(1021): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(997): Show |
intron_variant | MODIFIER | HG02723.hp1 HG06807.hp1 |
a0002a0003 | a0002c0005a0003c0006 | a0002c0005t0001a0003c0006t0005 | a0002c0005t0001g0382a0003c0006t0005g0383 | 2 | 420 | 0.0048 | 1004 | c.107 others(1021): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168614746 | G | GGCCTCTT others(997): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0136 | 3 | 180 | 0.0167 | 1004 | c.907 others(1021): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302147 | T | TTAGCAAT others(997): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 350 | 0.0029 | 1004 | c.440 others(1021): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(997): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 350 | 0.0029 | 1004 | c.440 others(1021): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(997): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 186 | 0.0054 | 1004 | c.-50 others(1015): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376773 | C | CCCCACCC others(997): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 370 | 0.0027 | 1004 | c.-80 others(1013): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 748 | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747573 | A | ACTGGGGT others(997): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0127 | 1 | 314 | 0.0032 | 1004 | c.189 others(1019): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132C_chr12_128262170_128712911 | 128708344 | G | GACTCACC others(997): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG02523.hp2 others(3): Show |
a0001a0009a0015others(2): Show | a0001c0001a0009c0003a0015c0083others(3): Show | a0001c0001t0006a0009c0003t0006a0015c0083t0006others(3): Show | a0001c0001t0006g0130a0009c0003t0006g0024a0015c0083t0006g0159others(3): Show | 6 | 170 | 0.0353 | 1004 | c.*20 others(1015): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 434 | chr12 | TogoVar |