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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF595_chr4_48321_93208 | 73241 | A | ATTAGAAA others(972): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp1 HG02129.hp1 others(5): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0050a0001c0001t0001g0051others(4): Show | 8 | 308 | 0.0260 | 979 | c.227 others(998): Show |
ZNF595 | ENSG00000272602.6 | transcript | ENST00000610261.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(973): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01257.hp2 others(1): Show |
a0029a0030 | a0029c0039a0030c0038 | a0029c0039t0001a0030c0038t0016a0030c0038t0020 | a0029c0039t0001g0351a0029c0039t0001g0353a0030c0038t0016g0352others(1): Show | 4 | 360 | 0.0111 | 980 | c.170 others(1001): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(973): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0151 | 1 | 228 | 0.0044 | 980 | c.118 others(999): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(973): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0160 | 1 | 228 | 0.0044 | 980 | c.118 others(999): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(973): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0018 | 1 | 182 | 0.0055 | 980 | c.505 others(999): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(973): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018 | 1 | 218 | 0.0046 | 980 | c.108 others(997): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1897349 | A | ACTCTGGA others(973): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0001a0004 | a0001c0005a0004c0064 | a0001c0005t0027a0004c0064t0071 | a0001c0005t0027g0195a0004c0064t0071g0189 | 2 | 363 | 0.0055 | 980 | c.155 others(997): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25757956 | C | CCACCTGC others(973): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0022 | a0022c0082 | a0022c0082t0001 | a0022c0082t0001g0277 | 1 | 300 | 0.0033 | 980 | c.655 others(999): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(973): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0219 | 2 | 284 | 0.0070 | 980 | c.411 others(997): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(973): Show |
upstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0117 | 1 | 334 | 0.0030 | 980 | c.-25 others(991): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0171 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(973): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0288 | 1 | 320 | 0.0031 | 980 | c.380 others(997): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(973): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19070.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0014a0006c0006t0014 | a0001c0001t0014g0016a0006c0006t0014g0058 | 2 | 66 | 0.0303 | 980 | c.56- others(993): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(973): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0009 | a0009c0012 | a0009c0012t0008 | a0009c0012t0008g0026 | 1 | 66 | 0.0152 | 980 | c.56- others(993): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(973): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02056.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0313 | 3 | 448 | 0.0067 | 980 | c.51+ others(995): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89598214 | A | ATCCATCC others(973): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 348 | 0.0029 | 980 | c.*15 others(991): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 969 | chr16 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TTACTACT others(973): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 | 1 | 230 | 0.0044 | 980 | c.724 others(999): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315169 | C | CCACCACC others(973): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 250 | 0.0040 | 980 | c.259 others(999): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(973): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 244 | 0.0041 | 980 | c.*23 others(991): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(973): Show |
intron_variant | MODIFIER | HG01978.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0268a0001c0001t0008g0341 | 2 | 418 | 0.0048 | 980 | c.119 others(999): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(973): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 418 | 0.0024 | 980 | c.119 others(999): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574410 | C | CGGCAGCA others(973): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0251 | 1 | 418 | 0.0024 | 980 | c.119 others(999): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(973): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0019 | a0019c0022 | a0019c0022t0006 | a0019c0022t0006g0135 | 1 | 174 | 0.0058 | 980 | c.193 others(999): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HCN2_chr19_584881_622159 | 602382 | C | CCCTCCTC others(973): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0385 | 1 | 408 | 0.0025 | 980 | c.633 others(997): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TATTTTAT others(973): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 394 | 0.0025 | 980 | c.41- others(995): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(973): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0142 | 1 | 204 | 0.0049 | 980 | c.978 others(997): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(973): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 282 | 0.0036 | 980 | c.258 others(997): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(973): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 308 | 0.0033 | 980 | c.-43 others(991): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(973): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 284 | 0.0035 | 980 | c.126 others(997): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507063 | G | GGGGTAGA others(973): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0215 | 1 | 260 | 0.0039 | 980 | c.624 others(997): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMLN_chr3_197955217_198048720 | 198004770 | T | TATCTATA others(973): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0055 | 1 | 258 | 0.0039 | 980 | c.131 others(999): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRP2_chr2_169122109_169367534 | 169327875 | A | AGGGAGGT others(973): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0012 | a0012c0077 | a0012c0077t0001 | a0012c0077t0001g0012 | 1 | 250 | 0.0040 | 980 | c.80- others(995): Show |
LRP2 | ENSG00000081479.15 | transcript | ENST00000649046.1 | protein_coding | 1/78 | chr2 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930023 | C | CCCCACTG others(973): Show |
intron_variant | MODIFIER | HG01515.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0209 | 2 | 264 | 0.0076 | 980 | c.180 others(999): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATAGA others(973): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0108 | 1 | 191 | 0.0052 | 980 | c.343 others(997): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGC others(973): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0320 | 1 | 384 | 0.0026 | 980 | c.160 others(997): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(973): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0017 | a0017c0035 | a0017c0035t0001 | a0017c0035t0001g0105 | 1 | 208 | 0.0048 | 980 | c.279 others(995): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19000.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 4 | 456 | 0.0088 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(973): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 980 | c.*31 others(991): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492393 | T | TCCCGGGA others(973): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0079 | 1 | 295 | 0.0034 | 980 | c.126 others(999): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(973): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0242 | 1 | 334 | 0.0030 | 980 | c.45- others(995): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(973): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 160 | 0.0063 | 980 | c.389 others(1001): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 273491 | C | CGTCAGGG others(973): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 133 | 0.0075 | 980 | c.438 others(997): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar |