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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0022 | 1 | 278 | 0.0036 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0067 | 1 | 278 | 0.0036 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(934): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02602.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0077a0001c0002t0003g0078a0001c0002t0003g0080others(1): Show | 4 | 250 | 0.0160 | 941 | c.225 others(958): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(934): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 941 | c.*70 others(952): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33458800 | A | AGGGCATG others(934): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 314 | 0.0032 | 941 | c.671 others(958): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33458800 | A | AGGGCATG others(934): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 314 | 0.0032 | 941 | c.671 others(958): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PEPD_chr19_33381950_33526791 | 33458800 | A | AGGGCATG others(934): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(150): Show | 156 | 314 | 0.4968 | 941 | c.671 others(958): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(934): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0090a0003c0003t0002g0097 | 2 | 346 | 0.0058 | 941 | c.176 others(960): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(934): Show |
intron_variant | MODIFIER | HG02738.hp1 HG04184.hp1 |
a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0260a0001c0028t0001g0263 | 2 | 308 | 0.0065 | 941 | c.371 others(958): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(934): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 312 | 0.0032 | 941 | c.306 others(960): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79555288 | G | GGTGATGG others(934): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 154 | 0.0065 | 941 | c.-32 others(962): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 141000123 | A | AAGAAGAA others(934): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0167 | 1 | 184 | 0.0054 | 941 | c.485 others(960): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668305 | C | CTCCCTCT others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 262 | 0.0038 | 941 | c.249 others(960): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2355048 | A | ACCCCATA others(934): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 422 | 0.0024 | 941 | c.134 others(958): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(934): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 242 | 0.0041 | 941 | c.*43 others(952): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(934): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0286 | 1 | 352 | 0.0028 | 941 | c.-12 others(952): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(934): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 150 | 0.0067 | 941 | c.531 others(958): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273573 | C | CGCCATCC others(934): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 392 | 0.0026 | 941 | c.228 others(960): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(934): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 2 | 432 | 0.0046 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(934): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0095 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108 | 2 | 432 | 0.0046 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0139a0001c0001t0003g0006a0001c0001t0003g0022others(6): Show | 17 | 432 | 0.0394 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0148 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150a0001c0001t0001g0151 | 2 | 432 | 0.0046 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 432 | 0.0069 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328762 | T | TTGTGTGT others(934): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043a0001c0001t0002g0222 | 3 | 432 | 0.0069 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 2 | 432 | 0.0046 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 432 | 0.0023 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(934): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0017 | a0017c0020 | a0017c0020t0003 | a0017c0020t0003g0016 | 1 | 310 | 0.0032 | 941 | c.-13 others(952): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | ||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(934): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0017 | a0017c0020 | a0017c0020t0003 | a0017c0020t0003g0014 | 1 | 310 | 0.0032 | 941 | c.-13 others(952): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(935): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0017 | 1 | 182 | 0.0055 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(935): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 182 | 0.0055 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(935): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18994.hp2 NA19082.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0017t0001g0098 | 3 | 182 | 0.0165 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(935): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 238 | 0.0042 | 942 | c.787 others(957): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(935): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0180 | 1 | 210 | 0.0048 | 942 | c.273 others(959): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1432505 | T | TCAGCAGT others(935): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 360 | 0.0028 | 942 | c.92- others(957): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(935): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0363 | 1 | 398 | 0.0025 | 942 | c.666 others(957): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |