| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NEXMIF_chrX_74727856_74930452 | 74853086 | TTGTCACA others(438): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 224 | 0.0045 | -445 | c.-48 others(19): Show |
NEXMIF | ENSG00000050030.16 | transcript | ENST00000055682.12 | protein_coding | 1/3 | chrX | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7363580 | CATCACCA others(438): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02165.hp2 HG02257.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0010a0001c0005t0007a0001c0009t0051others(5): Show | a0001c0003t0010g0021a0001c0005t0007g0065a0001c0009t0051g0042others(5): Show | 8 | 168 | 0.0476 | -445 | c.481 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TNK2_chr3_195858364_195913551 | 195874934 | TCCCCTCG others(438): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 372 | 0.0027 | -445 | c.125 others(19): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
| TNR_chr1_175310194_175748595 | 175713979 | CTCTCTCC others(438): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0101 | 1 | 132 | 0.0076 | -445 | c.-16 others(21): Show |
TNR | ENSG00000116147.18 | transcript | ENST00000367674.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133292017 | ATGTCCCT others(438): Show |
A | intron_variant | MODIFIER | HG04228.hp2 NA18969.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0146a0001c0015t0001g0223 | 2 | 284 | 0.0070 | -445 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393533 | TGGGGGCA others(438): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0008a0001c0006t0026 | a0001c0001t0008g0016a0001c0006t0026g0277 | 2 | 346 | 0.0058 | -445 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1131314 | CCTTTGCA others(437): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0029 | a0001c0001t0005g0279a0001c0001t0014g0242a0001c0001t0029g0116 | 3 | 337 | 0.0089 | -444 | c.62- others(15): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25758320 | CCACCTGC others(437): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01934.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0095a0003c0003t0001g0139 | 2 | 300 | 0.0067 | -444 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 511958 | CACCTTCC others(437): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01891.hp1 others(6): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0004a0005c0006others(2): Show | a0001c0001t0016a0001c0001t0028a0001c0001t0087others(5): Show | a0001c0001t0016g0179a0001c0001t0028g0048a0001c0001t0087g0190others(6): Show | 9 | 394 | 0.0228 | -444 | c.170 others(19): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA2D4_chr12_1786963_1923652 | 1815258 | TTCATCCA others(437): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG01952.hp2 others(11): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0001g0112a0001c0001t0001g0151a0001c0001t0001g0166others(11): Show | 14 | 318 | 0.0440 | -444 | c.255 others(19): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421013 | TACACATA others(437): Show |
T | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 432 | 0.0023 | -444 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61945173 | ATGAGGAG others(437): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0006a0001c0013a0001c0020 | a0001c0006t0006a0001c0006t0029a0001c0013t0006others(1): Show | a0001c0006t0006g0029a0001c0006t0029g0035a0001c0013t0006g0036others(1): Show | 4 | 106 | 0.0377 | -444 | c.*82 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4557 | chr20 | TogoVar | ||||||
| CHST15_chr10_124002668_124098598 | 124034558 | CAGGGACC others(437): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0374 | 1 | 392 | 0.0026 | -444 | c.119 others(19): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3795631 | TCATGTAT others(437): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0111 | a0001c0111t0045 | a0001c0111t0045g0063 | 1 | 126 | 0.0079 | -444 | c.819 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2276878 | GGAGGAAA others(437): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 50 | 0.0200 | -444 | c.389 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1247172 | GTGATGGC others(437): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG03516.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0001 | a0001c0002t0006g0011a0001c0003t0001g0026a0001c0003t0001g0027 | 3 | 40 | 0.0750 | -444 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137566634 | TCTGTCTG others(437): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 340 | 0.0029 | -444 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567454 | TGGGTGAC others(437): Show |
T | intron_variant | MODIFIER | HG01243.hp2 NA18945.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0186 | 3 | 340 | 0.0088 | -444 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 601930 | CCACACAC others(437): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 272 | 0.0037 | -444 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| F13A1_chr6_6139084_6325662 | 6261580 | GCCCTCCA others(437): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0024 | a0003c0024t0002 | a0003c0024t0002g0071 | 1 | 292 | 0.0034 | -444 | c.571 others(17): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89362248 | TCCAGCAC others(437): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 | 1 | 230 | 0.0044 | -444 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| FRYL_chr4_48492357_48785279 | 48659484 | GGGAGAAG others(437): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 282 | 0.0036 | -444 | c.-81 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
| GIPC1_chr19_14472762_14501127 | 14487394 | GGCTAATT others(437): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0109 | 1 | 444 | 0.0023 | -444 | c.-31 others(17): Show |
GIPC1 | ENSG00000123159.16 | transcript | ENST00000393033.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346621 | CGGGAGGA others(437): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 288 | 0.0035 | -444 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346639 | TGAGAGCG others(437): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 288 | 0.0035 | -444 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113347245 | TGGGAGGA others(437): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01516.hp2 HG01517.hp1 others(7): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0157a0001c0001t0001g0176a0001c0001t0001g0238others(7): Show | 10 | 288 | 0.0347 | -444 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113347381 | CGAGAGCA others(437): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 288 | 0.0035 | -444 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544719 | GGGCACGG others(437): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 286 | 0.0035 | -444 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685920 | CCCGCCCA others(437): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0251 | 1 | 362 | 0.0028 | -444 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799139 | GTGGTGAC others(437): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0106 | 1 | 178 | 0.0056 | -444 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114006130 | TGCCACCT others(437): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0053 | 1 | 67 | 0.0149 | -444 | c.174 others(18): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 259201 | AGCTCCGC others(437): Show |
A | downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 266 | 0.0038 | -444 | c.*27 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2120 | chr5 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1014202 | GAGAAGGA others(437): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0005 | 1 | 190 | 0.0053 | -444 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TAFA5_chr22_48484553_48756932 | 48736028 | TCGCACTC others(437): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 258 | 0.0039 | -444 | c.391 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133292031 | CCCTCCGT others(437): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG03098.hp2 HG03486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0154a0001c0001t0001g0205a0002c0003t0002g0075others(3): Show | 6 | 284 | 0.0211 | -444 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292601 | CGTGCCCG others(437): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 404 | 0.0025 | -444 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293806 | ACAGCCAC others(437): Show |
A | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 404 | 0.0025 | -444 | c.340 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393789 | GGGGAAGG others(437): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0039a0001c0002t0163others(1): Show | a0001c0001t0001g0086a0001c0001t0039g0085a0001c0002t0163g0080others(1): Show | 4 | 346 | 0.0116 | -444 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393844 | GGGTGGTC others(437): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0022 | a0002c0022t0093 | a0002c0022t0093g0069 | 1 | 346 | 0.0029 | -444 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ARHGAP20_chr11_110572043_110717437 | 110618783 | CAGTGATA others(436): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004a0001c0001t0004g0009a0001c0001t0004g0010others(4): Show | 8 | 226 | 0.0354 | -443 | c.504 others(17): Show |
ARHGAP20 | ENSG00000137727.13 | transcript | ENST00000683387.1 | protein_coding | 4/14 | chr11 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 421680 | CACATAGC others(436): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0244 | 1 | 432 | 0.0023 | -443 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2278813 | CGAGAGGG others(436): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 50 | 0.0200 | -443 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| EXOC3L4_chr14_103089725_103115559 | 103109246 | TCTCCCTC others(436): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0006others(1): Show | a0001c0003a0001c0005a0002c0007others(2): Show | a0001c0003t0002a0001c0005t0001a0002c0007t0001others(2): Show | a0001c0003t0002g0276a0001c0005t0001g0003a0001c0005t0001g0037others(7): Show | 13 | 404 | 0.0322 | -443 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805898 | CTCCCTCC others(436): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 314 | 0.0032 | -443 | c.*17 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1612 | chr2 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60042394 | CGTCCTGT others(436): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp1 others(14): Show |
a0001a0008 | a0001c0001a0001c0013a0008c0011 | a0001c0001t0002a0001c0001t0074a0001c0013t0002others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0009others(11): Show | 17 | 250 | 0.0680 | -443 | c.*72 others(10): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 726 | chr17 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132351969 | TGAGGCCT others(436): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0247 | 1 | 290 | 0.0035 | -443 | c.107 others(17): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NEU4_chr2_241804193_241822413 | 241805898 | CTCCCTCC others(436): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0014 | a0008c0014t0003 | a0008c0014t0003g0193 | 1 | 319 | 0.0031 | -443 | c.-33 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3294 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177946128 | AGCCGCCC others(436): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG01361.hp1 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0013others(1): Show | a0001c0001t0033a0002c0002t0001a0002c0002t0004others(4): Show | a0001c0001t0033g0072a0002c0002t0001g0071a0002c0002t0001g0073others(5): Show | 8 | 170 | 0.0471 | -443 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80355360 | ACGGGAAT others(436): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0027 | a0002c0027t0001 | a0002c0027t0001g0102 | 1 | 292 | 0.0034 | -443 | c.108 others(20): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1354237 | GGCTGGAG others(436): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0002c0003others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(29): Show | a0001c0001t0001g0016a0001c0001t0001g0024a0001c0001t0001g0025others(135): Show | 138 | 190 | 0.7263 | -443 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |