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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3044): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0329 | 1 | 362 | 0.0028 | 3051 | c.265 others(3072): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 366 | 0.0027 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0267a0001c0001t0004g0283 | 2 | 366 | 0.0055 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162a0001c0001t0005g0243a0001c0001t0005g0281others(1): Show | 4 | 366 | 0.0109 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 366 | 0.0027 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0308 | 1 | 366 | 0.0027 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0296 | 1 | 366 | 0.0027 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0007 | a0001c0001t0004g0345a0001c0002t0007g0325 | 2 | 366 | 0.0055 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3044): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 366 | 0.0027 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3044): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 408 | 0.0025 | 3051 | c.651 others(3066): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3044): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 158 | 0.0063 | 3051 | c.284 others(3070): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132577223 | A | ATCCAGAT others(3045): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0269 | 1 | 316 | 0.0032 | 3052 | c.177 others(3069): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 15/19 | chr3 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(3045): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0048 | a0005c0048t0001 | a0005c0048t0001g0080 | 1 | 104 | 0.0096 | 3052 | c.830 others(3069): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680263 | C | CCTCTCTC others(3045): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0047 | 1 | 76 | 0.0132 | 3052 | c.150 others(3071): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(3045): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0013 | 1 | 183 | 0.0055 | 3052 | c.107 others(3071): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3045): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 274 | 0.0037 | 3052 | c.307 others(3071): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(3045): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0057 | 1 | 290 | 0.0035 | 3052 | c.129 others(3071): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3045): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0077 | 2 | 395 | 0.0051 | 3052 | c.*24 others(3063): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3045): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 366 | 0.0027 | 3052 | c.781 others(3069): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3045): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 366 | 0.0027 | 3052 | c.781 others(3069): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3045): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 366 | 0.0027 | 3052 | c.781 others(3069): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3045): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 366 | 0.0027 | 3052 | c.781 others(3069): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3045): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 | 1 | 366 | 0.0027 | 3052 | c.781 others(3069): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273567 | G | GAGGGCGA others(3045): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 133 | 0.0075 | 3052 | c.438 others(3069): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3045): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 279 | 0.0036 | 3052 | c.*27 others(3063): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(3045): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0020 | a0020c0089 | a0020c0089t0047 | a0020c0089t0047g0056 | 1 | 116 | 0.0086 | 3052 | c.199 others(3071): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3045): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0116 | 1 | 158 | 0.0063 | 3052 | c.284 others(3071): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3045): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0037 | 1 | 272 | 0.0037 | 3052 | c.389 others(3071): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ACAD11_chr3_132553141_132664809 | 132577223 | A | ATCCAGAT others(3046): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0270 | 1 | 316 | 0.0032 | 3053 | c.177 others(3070): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 15/19 | chr3 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3046): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 264 | 0.0038 | 3053 | c.400 others(3072): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3046): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0133 | 1 | 264 | 0.0038 | 3053 | c.400 others(3072): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3046): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 395 | 0.0025 | 3053 | c.*24 others(3064): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3046): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 395 | 0.0025 | 3053 | c.*24 others(3064): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3046): Show |
downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 395 | 0.0025 | 3053 | c.*24 others(3064): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3046): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0084 | 2 | 395 | 0.0051 | 3053 | c.*24 others(3064): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3046): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 366 | 0.0027 | 3053 | c.781 others(3070): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3046): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0294 | 1 | 366 | 0.0027 | 3053 | c.781 others(3070): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3046): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 366 | 0.0027 | 3053 | c.781 others(3070): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3046): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0273 | 1 | 366 | 0.0027 | 3053 | c.781 others(3070): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3046): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0234 | 1 | 366 | 0.0027 | 3053 | c.781 others(3070): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(3047): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0199 | 1 | 418 | 0.0024 | 3054 | c.96+ others(3069): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(3047): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0027 | a0001c0027t0002 | a0001c0027t0002g0113 | 1 | 136 | 0.0074 | 3054 | c.47- others(3071): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3047): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241 | 1 | 264 | 0.0038 | 3054 | c.400 others(3073): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3047): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3054 | c.*24 others(3065): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3047): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3054 | c.*24 others(3065): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3047): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 395 | 0.0025 | 3054 | c.*24 others(3065): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3047): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 366 | 0.0027 | 3054 | c.781 others(3071): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3047): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0307 | 1 | 366 | 0.0027 | 3054 | c.781 others(3071): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3047): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 366 | 0.0027 | 3054 | c.781 others(3071): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3047): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 366 | 0.0027 | 3054 | c.781 others(3071): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar |