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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3041): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0103 | 1 | 19 | 0.0526 | 3048 | c.389 others(3067): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(3042): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0172 | 1 | 83 | 0.0120 | 3049 | c.724 others(3068): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAAF9_chr20_3244306_3412669 | 3400485 | T | TAGAAATT others(3042): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0348 | 1 | 354 | 0.0028 | 3049 | c.83+ others(3064): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3042): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 8 | 0.1250 | 3049 | c.400 others(3068): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPS8L2_chr11_701231_732727 | 716152 | G | GTTTTTTT others(3042): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 377 | 0.0027 | 3049 | c.166 others(3066): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3042): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 297 | 0.0034 | 3049 | c.-91 others(3070): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187138 | G | GGGAGGAA others(3042): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 318 | 0.0031 | 3049 | c.*20 others(3060): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1851 | chr16 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3042): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 63 | 0.0317 | 3049 | c.*24 others(3060): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3042): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 62 | 0.0161 | 3049 | c.*24 others(3060): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3042): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 62 | 0.0161 | 3049 | c.*24 others(3060): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0285 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0051 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0007 | a0001c0001t0003g0266 a0001c0001t0004g0293 a0001c0001t0004g0340 others(1): Show |
4 | 235 | 0.0170 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3042): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0262 | 1 | 232 | 0.0043 | 3049 | c.781 others(3066): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3042): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02135.hp1 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0041 a0001c0004t0008g0045 |
2 | 20 | 0.1000 | 3049 | c.389 others(3068): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3042): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0197 | 1 | 303 | 0.0033 | 3049 | c.192 others(3064): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 213011884 | T | TATTTATA others(3043): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 390 | 0.0026 | 3050 | c.385 others(3067): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(3043): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 233 | 0.0043 | 3050 | c.366 others(3067): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(3043): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0179 | 1 | 152 | 0.0066 | 3050 | c.228 others(3071): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241319 | C | CTCCCTAT others(3043): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0181 | 1 | 177 | 0.0056 | 3050 | c.107 others(3069): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3043): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0027 | 1 | 62 | 0.0161 | 3050 | c.*24 others(3061): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3043): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 62 | 0.0161 | 3050 | c.*24 others(3061): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGCGT others(3043): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0051 | 1 | 265 | 0.0038 | 3050 | c.299 others(3065): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(3043): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 | 1 | 250 | 0.0040 | 3050 | c.112 others(3067): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0056 | 1 | 232 | 0.0043 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0136 a0001c0001t0004g0081 a0001c0001t0004g0135 others(8): Show |
12 | 243 | 0.0494 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 232 | 0.0043 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0279 | 1 | 232 | 0.0043 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0332 | 1 | 232 | 0.0043 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76323179 | T | TAAAAATA others(3043): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0167 | 1 | 232 | 0.0043 | 3050 | c.781 others(3067): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3043): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 8 | 0.2500 | 3050 | c.*27 others(3061): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3043): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 7 | 0.1429 | 3050 | c.*27 others(3061): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3043): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0118 |
2 | 8 | 0.2500 | 3050 | c.*27 others(3061): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3043): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0064 others(8): Show |
11 | 33 | 0.3333 | 3050 | c.284 others(3069): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3043): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0156 | 1 | 19 | 0.0526 | 3050 | c.389 others(3069): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3043): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0221 a0001c0002t0019g0222 |
2 | 20 | 0.1000 | 3050 | c.389 others(3069): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3044): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0015 | 1 | 2 | 0.5000 | 3051 | c.126 others(3068): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949682 | G | GATCTTTT others(3044): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0064 | a0002c0064t0001 | a0002c0064t0001g0139 | 1 | 178 | 0.0056 | 3051 | c.280 others(3072): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3044): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0124 | 1 | 4 | 0.2500 | 3051 | c.115 others(3070): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3044): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 4 | 0.2500 | 3051 | c.115 others(3070): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(3044): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 73 | 0.0137 | 3051 | c.162 others(3070): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949682 | G | GATCTTTT others(3044): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0306 | 1 | 311 | 0.0032 | 3051 | c.-91 others(3072): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68888879 | G | GAGACCAG others(3044): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 62 | 0.0161 | 3051 | c.*24 others(3062): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 2398 | chr11 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(3044): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0331 | 1 | 282 | 0.0035 | 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 | a0001c0001t0004g0139 | 1 | 232 | 0.0043 | 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 | a0001c0001t0003g0267 a0001c0001t0004g0283 |
2 | 233 | 0.0086 | 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 | a0001c0001t0005g0166 a0001c0001t0005g0243 a0001c0001t0005g0280 others(1): Show |
4 | 235 | 0.0170 | 3051 | c.781 others(3068): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar |