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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(984): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 210 | 0.0048 | 991 | c.273 others(1008): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(984): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0003a0001c0003t0003a0001c0006t0003 | a0001c0001t0003g0093a0001c0001t0003g0108a0001c0001t0003g0242others(3): Show | 6 | 257 | 0.0234 | 991 | c.*40 others(1002): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(984): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01070.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0106others(6): Show | 13 | 257 | 0.0506 | 991 | c.*40 others(1002): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(984): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02698.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0291a0001c0001t0001g0300 | 3 | 326 | 0.0092 | 991 | c.327 others(1008): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(984): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0056 | a0056c0115 | a0056c0115t0003 | a0056c0115t0003g0190 | 1 | 338 | 0.0030 | 991 | c.300 others(1008): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CASR_chr3_122178668_122296629 | 122290562 | G | GTTCTAAA others(984): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0145 | 1 | 314 | 0.0032 | 991 | c.*54 others(1002): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 7/7 | 5481 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
FLT4_chr5_180596506_180654600 | 180615442 | G | GCCCACCG others(984): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 388 | 0.0026 | 991 | c.321 others(1008): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132240952 | C | CGGGGCCC others(984): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0074 | 1 | 183 | 0.0055 | 991 | c.107 others(1010): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 350 | 0.0029 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0229 | 2 | 350 | 0.0057 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 350 | 0.0029 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 350 | 0.0029 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03834.hp2 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0074a0001c0001t0001g0077a0001c0001t0001g0091others(2): Show | 5 | 350 | 0.0143 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(984): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 350 | 0.0029 | 991 | c.94- others(1004): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(984): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 276 | 0.0036 | 991 | c.*65 others(1002): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KRTAP5-7_chr11_71522267_71533669 | 71522709 | G | GAGTACGC others(984): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 2 | 460 | 0.0044 | 991 | c.-45 others(1002): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4557 | chr11 | TogoVar | ||||||
KRTAP5-7_chr11_71522267_71533669 | 71522709 | G | GAGTACGC others(984): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 460 | 0.0022 | 991 | c.-45 others(1002): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4557 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(984): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0018 | a0001c0018t0004 | a0001c0018t0004g0215 | 1 | 278 | 0.0036 | 991 | c.115 others(1008): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(984): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0266 | 1 | 330 | 0.0030 | 991 | c.-5+ others(1006): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811266 | T | TTCCTTCC others(984): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0072 | 1 | 178 | 0.0056 | 991 | c.773 others(1006): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(984): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 188 | 0.0053 | 991 | c.147 others(1008): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(984): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009a0001c0002t0023others(2): Show | a0001c0002t0001g0324a0001c0002t0009g0081a0001c0002t0023g0345others(3): Show | 6 | 370 | 0.0162 | 991 | c.438 others(1008): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(984): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0352 | 1 | 370 | 0.0027 | 991 | c.438 others(1008): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(984): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0350 | 1 | 370 | 0.0027 | 991 | c.438 others(1008): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(984): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 304 | 0.0033 | 991 | c.66+ others(1006): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(984): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0083 | 1 | 334 | 0.0030 | 991 | c.45- others(1006): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
THEG_chr19_356747_381026 | 377496 | T | TCTGTGCC others(984): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 370 | 0.0027 | 991 | c.-15 others(1002): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(984): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02083.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0002a0009c0008t0004 | a0001c0001t0002g0058a0009c0008t0004g0047 | 2 | 94 | 0.0213 | 991 | c.79+ others(1008): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(984): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 238 | 0.0042 | 991 | c.392 others(1008): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(985): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0205 | 1 | 306 | 0.0033 | 992 | c.130 others(1011): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATATATTT others(985): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0291 | 1 | 306 | 0.0033 | 992 | c.130 others(1011): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(985): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0005 | a0004c0005t0102 | a0004c0005t0102g0254 | 1 | 262 | 0.0038 | 992 | c.106 others(1011): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 380 | 0.0026 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0277 | 1 | 380 | 0.0026 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0375a0001c0001t0004g0264a0001c0001t0006g0109others(1): Show | 4 | 380 | 0.0105 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 380 | 0.0026 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(985): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0131a0001c0001t0009g0366 | 2 | 380 | 0.0053 | 992 | c.313 others(1007): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0002g0016others(1): Show | 4 | 257 | 0.0156 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(162): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0052others(159): Show | 165 | 257 | 0.6420 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(51): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0066a0001c0001t0001g0105a0001c0001t0001g0110others(49): Show | 54 | 257 | 0.2101 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40048031 | G | GGTGGGTG others(985): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 257 | 0.0039 | 992 | c.*40 others(1003): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 3219 | chrX | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(985): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01975.hp2 HG02109.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0004a0001c0001t0006a0005c0012t0004 | a0001c0001t0004g0164a0001c0001t0004g0166a0001c0001t0004g0171others(8): Show | 11 | 326 | 0.0337 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(985): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02818.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0159others(3): Show | 6 | 326 | 0.0184 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331550 | G | GGAAGGGA others(985): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209a0001c0001t0002g0210 | 2 | 326 | 0.0061 | 992 | c.327 others(1009): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar |