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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(291): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19090.hp1 |
a0004 | a0004c0005 | a0004c0005t0064a0004c0005t0071 | a0004c0005t0064g0282 a0004c0005t0071g0281 |
2 | 257 | 0.0078 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(291): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0121 | 1 | 256 | 0.0039 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(291): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 256 | 0.0039 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(291): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0168 | 1 | 256 | 0.0039 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747572 | C | CTGGGGTA others(291): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0204 | 1 | 256 | 0.0039 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747633 | G | GCTGGGGT others(291): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0081 | a0001c0001t0001g0108 a0001c0001t0081g0109 |
2 | 254 | 0.0079 | 298 | c.189 others(313): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129088952 | C | CGGGGCGT others(291): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0049 | 1 | 74 | 0.0135 | 298 | c.144 others(317): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
TMEM239_chr20_2811364_2823062 | 2823000 | G | GTCTCCCT others(291): Show |
downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 381 | 0.0026 | 298 | c.*59 others(309): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4939 | chr20 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418967 | C | CCCTCCCT others(291): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 36 | 0.0278 | 298 | c.215 others(315): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930719 | A | GGGAGGCC others(291): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 44 | 0.0455 | 298 | c.*48 others(309): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4651 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507567 | G | GTATATAT others(291): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 a0001c0001t0002g0090 |
2 | 182 | 0.0110 | 298 | c.-23 others(315): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3439546 | G | GTTGTTGA others(291): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18990.hp2 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0007t0002 | a0002c0002t0002g0076 a0002c0007t0002g0066 |
2 | 335 | 0.0060 | 298 | c.141 others(317): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TSEN15_chr1_184046730_184079212 | 184047014 | T | TAATTACT others(291): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 420 | 0.0024 | 298 | c.-47 others(309): Show |
TSEN15 | ENSG00000198860.14 | transcript | ENST00000645668.2 | protein_coding | 4715 | chr1 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3221997 | C | CCATCACC others(291): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG03942.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 357 | 0.0084 | 298 | c.*27 others(309): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2279 | chr6 | TogoVar | |||||||
TYK2_chr19_10345533_10385572 | 10377665 | T | TGGATGGG others(291): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 354 | 0.0028 | 298 | c.193 others(313): Show |
TYK2 | ENSG00000105397.15 | transcript | ENST00000525621.6 | protein_coding | 3/24 | chr19 | TogoVar | |||||||
UBE4A_chr11_118354600_118404211 | 118355861 | A | ATATATGT others(291): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 200 | 0.0050 | 298 | c.-38 others(309): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3738 | chr11 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(291): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0138 | 1 | 59 | 0.0169 | 298 | c.213 others(317): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(291): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0232 | 1 | 163 | 0.0061 | 298 | c.39+ others(313): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | |||||||
ZBTB46_chr20_63738670_63836264 | 63747510 | C | CCAGGGGG others(291): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0234 | 1 | 143 | 0.0070 | 298 | c.139 others(315): Show |
ZBTB46 | ENSG00000130584.12 | transcript | ENST00000245663.9 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
ZC3H18_chr16_88565403_88636964 | 88615117 | G | GCTCCGTT others(291): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 |
2 | 376 | 0.0053 | 298 | c.147 others(317): Show |
ZC3H18 | ENSG00000158545.16 | transcript | ENST00000301011.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZC3H3_chr8_143432659_143546447 | 143498865 | G | GAGGGGCA others(291): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03041.hp2 others(3): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0170 a0007c0008t0001g0171 a0007c0008t0001g0172 others(3): Show |
6 | 347 | 0.0173 | 298 | c.171 others(317): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 749002 | A | ACTAAGTG others(291): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(27): Show |
a0001 | a0001c0002a0001c0005a0001c0029others(2): Show | a0001c0002t0004a0001c0002t0006a0001c0002t0022others(6): Show | a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0220 others(27): Show |
30 | 199 | 0.1508 | 298 | c.629 others(313): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 7/13 | chr5 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63970948 | T | TTTTCTCT others(291): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG03654.hp1 HG03927.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0036 a0001c0002t0005g0037 a0001c0002t0005g0039 |
5 | 353 | 0.0142 | 298 | c.-11 others(309): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 1019 | chr20 | TogoVar | |||||||
ZNF778_chr16_89212703_89242141 | 89215276 | G | GAACATGA others(291): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp1 HG01109.hp2 others(8): Show |
a0001a0004a0006others(1): Show | a0001c0002a0004c0005a0006c0007others(2): Show | a0001c0002t0010a0004c0005t0007a0004c0005t0012others(5): Show | a0001c0002t0010g0233 a0001c0002t0010g0234 a0004c0005t0007g0003 others(7): Show |
11 | 386 | 0.0285 | 298 | c.-27 others(309): Show |
ZNF778 | ENSG00000170100.14 | transcript | ENST00000433976.7 | protein_coding | 2426 | chr16 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392144 | T | TAAAAACA others(292): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 311 | 0.0032 | 299 | c.-14 others(310): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1310 | chr20 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 185 | 0.0054 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0219 | 1 | 185 | 0.0054 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01099.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0002g0080 others(18): Show |
21 | 205 | 0.1024 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 185 | 0.0054 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0062 others(124): Show |
127 | 311 | 0.4084 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1062180 | C | CCTCTAGA others(292): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0233 | 1 | 185 | 0.0054 | 299 | c.118 others(318): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110924785 | T | TGAATCAC others(292): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 NA18956.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0066 a0002c0002t0001g0113 a0002c0002t0002g0050 |
3 | 131 | 0.0229 | 299 | c.906 others(316): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305034 | C | CCACACCA others(292): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0010 | a0010c0028 | a0010c0028t0035 | a0010c0028t0035g0157 | 1 | 330 | 0.0030 | 299 | c.318 others(318): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456150 | T | TTATATAT others(292): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 a0002c0002t0001g0017 |
2 | 173 | 0.0116 | 299 | c.505 others(318): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456150 | T | TTATATAT others(292): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 172 | 0.0058 | 299 | c.505 others(318): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456152 | A | ATATATAG others(292): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02615.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0003 | a0001c0001t0001g0114 a0003c0007t0003g0124 |
2 | 156 | 0.0128 | 299 | c.505 others(318): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142500312 | A | ACGCGCCG others(292): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0138 | 1 | 224 | 0.0045 | 299 | c.267 others(318): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7918844 | T | TGCCGGAT others(292): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0018 | 1 | 296 | 0.0034 | 299 | c.-3+ others(316): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167905660 | T | TAAAAACA others(292): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0006 a0001c0006t0001g0308 a0001c0006t0001g0315 others(2): Show |
6 | 316 | 0.0190 | 299 | c.165 others(318): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 424146 | G | GTTAACCC others(292): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 | 1 | 266 | 0.0038 | 299 | c.708 others(314): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8363566 | T | TCTTTTCT others(292): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0097 | 1 | 395 | 0.0025 | 299 | c.-75 others(308): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 588 | chr19 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5660426 | T | TAGAACAC others(292): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01952.hp2 HG02129.hp1 |
a0001a0004 | a0001c0001a0004c0008a0004c0009 | a0001c0001t0003a0004c0008t0001a0004c0009t0001 | a0001c0001t0003g0021 a0004c0008t0001g0067 a0004c0009t0001g0054 |
3 | 115 | 0.0261 | 299 | c.154 others(320): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 14/24 | chr12 | TogoVar | |||||||
ANP32E_chr1_150213417_150241112 | 150227793 | T | TCAAATTT others(292): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00597.hp2 others(54): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0007others(1): Show | a0002c0001t0001g0006 a0002c0001t0001g0017 a0002c0001t0001g0020 others(49): Show |
57 | 263 | 0.2167 | 299 | c.494 others(314): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21001219 | T | TTTAATTA others(292): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 NA18960.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0035 a0006c0006t0001g0166 |
2 | 316 | 0.0063 | 299 | c.*51 others(308): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 209 | chr2 | TogoVar | |||||||
ARFGAP2_chr11_47159301_47181879 | 47181261 | C | CAAAAAAA others(292): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0007 | a0007c0015 | a0007c0015t0002 | a0007c0015t0002g0157 | 1 | 366 | 0.0027 | 299 | c.-44 others(310): Show |
ARFGAP2 | ENSG00000149182.15 | transcript | ENST00000524782.6 | protein_coding | 4383 | chr11 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1919995 | A | AGTGATGG others(292): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0171 | 1 | 362 | 0.0028 | 299 | c.214 others(318): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221345 | A | ATAGATAT others(292): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0133 | 1 | 272 | 0.0037 | 299 | c.670 others(316): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111310248 | T | TCTCCGTG others(292): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 204 | 0.0049 | 299 | c.*71 others(310): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 4517 | chr13 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251644 | A | AGGGAGGG others(292): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01123.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0106 others(17): Show |
20 | 329 | 0.0608 | 299 | c.479 others(316): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ATG5_chr6_106179476_106330760 | 106251644 | A | AGGGAGGG others(292): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 310 | 0.0032 | 299 | c.479 others(316): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/7 | chr6 | TogoVar |