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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PPP2R3B_chrX_328933_391907 | 366639 | A | AGTGAGCT others(983): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 20 | 0.0500 | 990 | c.325 others(1007): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 467520 | G | GGGGGCGT others(983): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 267 | 0.0037 | 990 | c.809 others(1007): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(983): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 269 | 0.0037 | 990 | c.126 others(1009): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 221666 | T | TGCATCAG others(983): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18940.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0049 a0001c0004t0001g0048 |
2 | 108 | 0.0185 | 990 | c.614 others(1007): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80743926 | G | GAGCCCTG others(983): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0064 | 1 | 120 | 0.0083 | 990 | c.655 others(1009): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744541 | C | CCCTGGTT others(983): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0072 | a0001c0072t0005 | a0001c0072t0005g0076 | 1 | 171 | 0.0058 | 990 | c.655 others(1007): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(983): Show |
intron_variant | MODIFIER | NA19076.hp1 NA19076.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0021 | a0001c0001t0001g0338 a0001c0003t0021g0247 |
2 | 279 | 0.0072 | 990 | c.101 others(1007): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(983): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 208 | 0.0048 | 990 | c.115 others(1007): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(983): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 28 | 0.0357 | 990 | c.-50 others(1001): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(983): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0003 | 1 | 352 | 0.0028 | 990 | c.*32 others(1001): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACACAT others(983): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 | 1 | 208 | 0.0048 | 990 | c.228 others(1009): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377008 | C | CCCCACCC others(983): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0313 | 1 | 326 | 0.0031 | 990 | c.-10 others(1001): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 983 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(983): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0100 | 1 | 267 | 0.0037 | 990 | c.189 others(1005): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747853 | G | GCACTGGG others(983): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0068 | a0002c0002t0068g0233 | 1 | 179 | 0.0056 | 990 | c.189 others(1005): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(983): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 51 | 0.0392 | 990 | c.*24 others(1001): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169562 | T | TCCTCCCT others(983): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0007 | 1 | 93 | 0.0108 | 990 | c.*46 others(999): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 381 | chrX | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377227 | C | CGATCTGA others(983): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0020a0004c0006t0003 | a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0020 others(2): Show |
5 | 271 | 0.0185 | 990 | c.*41 others(1005): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377227 | C | CGATCTGA others(983): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0010 | 1 | 267 | 0.0037 | 990 | c.*41 others(1005): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(984): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0096 | 1 | 12 | 0.0833 | 991 | c.387 others(1010): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(984): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01496.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0372 a0001c0001t0002g0369 a0001c0001t0004g0373 others(4): Show |
7 | 334 | 0.0210 | 991 | c.313 others(1006): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(984): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 328 | 0.0030 | 991 | c.313 others(1006): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126584671 | A | AAAAAAAA others(984): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 328 | 0.0030 | 991 | c.313 others(1006): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(984): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 72 | 0.0139 | 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 | a0001c0001t0003g0100 a0001c0001t0003g0114 a0001c0001t0003g0234 others(3): Show |
6 | 170 | 0.0353 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0113 a0001c0001t0003g0001 a0001c0001t0003g0002 others(6): Show |
13 | 177 | 0.0734 | 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 | a0001c0001t0001g0274 a0001c0001t0001g0289 a0001c0001t0001g0298 |
3 | 221 | 0.0136 | 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 | a0028 | a0028c0115 | a0028c0115t0003 | a0028c0115t0003g0178 | 1 | 103 | 0.0097 | 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 | a0001c0001t0031g0146 | 1 | 312 | 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 | a0001c0001t0001g0364 | 1 | 225 | 0.0044 | 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 | 169 | 0.0059 | 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 | 132 | 0.0076 | 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 | a0001c0001t0001g0191 a0001c0001t0001g0229 |
2 | 133 | 0.0150 | 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 | 132 | 0.0076 | 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 | 132 | 0.0076 | 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 | a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0091 others(2): Show |
5 | 136 | 0.0368 | 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 | 132 | 0.0076 | 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 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 124 | 0.0081 | 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 | 457 | 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 | 456 | 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 | a0001c0018t0004g0226 | 1 | 8 | 0.1250 | 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 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 295 | 0.0034 | 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 | 155 | 0.0065 | 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 | 82 | 0.0122 | 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 | a0001c0002t0001g0324 a0001c0002t0009g0081 a0001c0002t0023g0345 others(3): Show |
6 | 7 | 0.8571 | 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 | a0001c0002t0023g0354 | 1 | 2 | 0.5000 | 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 | a0001c0001t0015 | a0001c0001t0015g0350 | 1 | 2 | 0.5000 | 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 | a0001c0001t0002g0127 | 1 | 174 | 0.0057 | 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 | 306 | 0.0033 | 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 | a0001c0001t0001g0305 | 1 | 263 | 0.0038 | 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 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0007c0008t0004 | a0001c0001t0002g0059 a0007c0008t0004g0043 |
2 | 65 | 0.0308 | 991 | c.79+ others(1008): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar |