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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ESR1_chr6_151802682_152108274 | 151899070 | TGGGGGGC others(42): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp1 NA18906.hp2 others(5): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0003g0092 a0001c0001t0005g0032 a0001c0001t0005g0086 others(5): Show |
8 | 242 | 0.0331 | -49 | c.760 others(68): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151899257 | ACCCCCAC others(42): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0172 a0001c0002t0002g0190 |
2 | 245 | 0.0082 | -49 | c.760 others(68): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151899318 | CTCCCGGA others(42): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00673.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0025 others(39): Show |
42 | 248 | 0.1694 | -49 | c.760 others(68): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151899459 | AGCTGGCC others(42): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0201 | 1 | 248 | 0.0040 | -49 | c.760 others(68): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151899467 | AGGCGGGG others(42): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG03209.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0164 a0001c0001t0003g0077 a0001c0001t0012g0174 others(2): Show |
5 | 248 | 0.0202 | -49 | c.760 others(68): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ETS2_chr21_38800929_38829955 | 38816008 | AAGGAGGG others(42): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01993.hp1 HG02015.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0005 a0001c0002t0002g0120 a0001c0002t0002g0128 others(2): Show |
5 | 424 | 0.0118 | -49 | c.506 others(64): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | chr21 | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816009 | AGGAGGGA others(42): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0002 | a0001c0003t0002g0004 a0001c0003t0002g0030 a0001c0010t0002g0134 |
4 | 215 | 0.0186 | -49 | c.506 others(64): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501176 | CTATATAT others(42): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 205 | 0.0049 | -49 | c.238 others(68): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
F8A2_chrX_155377095_155388801 | 155377219 | TGGTTCAA others(42): Show |
T | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 267 | 0.0037 | -49 | c.-48 others(60): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 4875 | chrX | TogoVar | |||||||
FAM166C_chr2_26557587_26584524 | 26559117 | TGTCCACC others(42): Show |
T | upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 410 | 0.0024 | -49 | c.-34 others(60): Show |
FAM166C | ENSG00000173557.15 | transcript | ENST00000329615.4 | protein_coding | 3469 | chr2 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96981193 | TGGCCTCA others(42): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0224 | 1 | 248 | 0.0040 | -49 | c.73+ others(64): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
FAM20B_chr1_179020894_179081567 | 179040520 | GGCTGGCC others(42): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00738.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0026 | a0001c0001t0004g0007 a0001c0001t0004g0031 a0001c0001t0004g0032 others(20): Show |
30 | 406 | 0.0739 | -49 | c.-13 others(68): Show |
FAM20B | ENSG00000116199.12 | transcript | ENST00000263733.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FAM210A_chr18_13658347_13731558 | 13675120 | ACTTCTTT others(42): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0027others(2): Show | a0001c0001t0017g0087 a0001c0001t0018g0088 a0001c0001t0018g0089 others(3): Show |
6 | 319 | 0.0188 | -49 | c.474 others(66): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13675124 | CTTTATTT others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(54): Show |
61 | 306 | 0.1993 | -49 | c.474 others(66): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13675934 | CTCTTTAT others(42): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0132 | 1 | 320 | 0.0031 | -49 | c.474 others(66): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49549984 | AGACGGGG others(42): Show |
A | intron_variant | MODIFIER | NA18957.hp2 NA18977.hp2 NA19001.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0157 a0001c0001t0005g0158 a0001c0001t0005g0159 others(1): Show |
4 | 292 | 0.0137 | -49 | c.748 others(66): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 9/15 | chr15 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241464247 | CTCCTCAA others(42): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 376 | 0.0027 | -49 | c.189 others(66): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5432323 | AAAAAATA others(42): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0057 others(4): Show |
7 | 156 | 0.0449 | -49 | c.904 others(66): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186610661 | ATTATATA others(42): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00741.hp2 others(46): Show |
a0002a0006a0008others(28): Show | a0002c0018a0002c0055a0002c0130others(37): Show | a0002c0018t0020a0002c0018t0033a0002c0055t0007others(42): Show | a0002c0018t0020g0142 a0002c0018t0020g0279 a0002c0018t0033g0296 others(46): Show |
49 | 288 | 0.1701 | -49 | c.985 others(66): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FBLN7_chr2_112133385_112193218 | 112138789 | GTGTCCCT others(42): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(26): Show |
35 | 344 | 0.1017 | -49 | c.75+ others(61): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112139880 | GGCCAGTG others(42): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 342 | 0.0029 | -49 | c.75+ others(64): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132535798 | CGTGAGTG others(42): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0036 | a0036c0056 | a0036c0056t0037 | a0036c0056t0037g0082 | 1 | 346 | 0.0029 | -49 | c.615 others(66): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXO31_chr16_87321987_87388776 | 87325658 | AGAGAAGG others(42): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0039 | 1 | 374 | 0.0027 | -49 | c.*55 others(60): Show |
FBXO31 | ENSG00000103264.18 | transcript | ENST00000311635.12 | protein_coding | 1328 | chr16 | TogoVar | |||||||
FBXW11_chr5_171856549_172011638 | 172010685 | TATATATA others(42): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 129 | 0.0078 | -49 | c.-42 others(60): Show |
FBXW11 | ENSG00000072803.18 | transcript | ENST00000517395.6 | protein_coding | 4048 | chr5 | TogoVar | |||||||
FDX2_chr19_10305045_10321015 | 10307637 | CCTGAGCA others(42): Show |
C | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 442 | 0.0023 | -49 | c.*28 others(60): Show |
FDX2 | ENSG00000267673.7 | transcript | ENST00000393708.3 | protein_coding | 2407 | chr19 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108992607 | TGGGGCGG others(42): Show |
T | intron_variant | MODIFIER | NA18969.hp2 NA18972.hp1 NA18990.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0051 a0001c0002t0001g0108 a0001c0002t0001g0120 |
3 | 136 | 0.0221 | -49 | c.165 others(70): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FGF14_chr13_101705804_101921945 | 101850478 | ATATATAT others(42): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp2 HG01934.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0057others(4): Show | a0001c0001t0003g0078 a0001c0001t0021g0188 a0001c0001t0057g0006 others(4): Show |
7 | 264 | 0.0265 | -49 | c.408 others(68): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FHIP1A_chr4_151404176_151675503 | 151526418 | TGGCTGGC others(42): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03209.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 a0001c0001t0007g0002 a0001c0001t0007g0003 others(2): Show |
5 | 238 | 0.0210 | -49 | c.-12 others(70): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FHIP1A_chr4_151404176_151675503 | 151526476 | GGGCGGGG others(42): Show |
G | intron_variant | MODIFIER | NA19005.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0142 a0001c0001t0005g0152 |
2 | 250 | 0.0080 | -49 | c.-12 others(70): Show |
FHIP1A | ENSG00000164142.16 | transcript | ENST00000435205.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FILIP1_chr6_75303090_75498800 | 75441665 | GCCCCCAC others(42): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 303 | 0.0033 | -49 | c.-6- others(66): Show |
FILIP1 | ENSG00000118407.15 | transcript | ENST00000237172.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
FILIP1_chr6_75303090_75498800 | 75441839 | GCCCCCCC others(42): Show |
G | intron_variant | MODIFIER | HG02559.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0181 |
2 | 303 | 0.0066 | -49 | c.-6- others(66): Show |
FILIP1 | ENSG00000118407.15 | transcript | ENST00000237172.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201283802 | GGCCGGGC others(42): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0301 | 1 | 368 | 0.0027 | -49 | c.*48 others(60): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 4468 | chr2 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180617577 | CCAGAGCA others(42): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 388 | 0.0026 | -49 | c.300 others(66): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180617677 | CCAGAGCA others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(223): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0006a0001c0013others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(218): Show |
226 | 388 | 0.5825 | -49 | c.300 others(66): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | |||||||
FMO2_chr1_171180300_171217686 | 171181768 | ATAAGGCA others(42): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02965.hp1 HG03098.hp2 others(1): Show |
a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0036 a0004c0008t0002g0093 a0004c0008t0002g0095 |
4 | 363 | 0.0110 | -49 | c.-35 others(60): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 3531 | chr1 | TogoVar | |||||||
FOXD4L1_chr2_113493665_113506150 | 113496512 | CTTTCCGT others(42): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp2 others(21): Show |
a0003a0005a0012 | a0003c0003a0003c0008a0005c0007others(1): Show | a0003c0003t0005a0003c0008t0005a0005c0007t0009others(1): Show | a0003c0003t0005g0000 a0003c0008t0005g0000 a0005c0007t0009g0000 others(1): Show |
24 | 323 | 0.0743 | -49 | c.-27 others(60): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 2152 | chr2 | TogoVar | |||||||
FOXO1_chr13_40550667_40671641 | 40669701 | CCGCAGAT others(42): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 392 | 0.0026 | -49 | c.-35 others(60): Show |
FOXO1 | ENSG00000150907.10 | transcript | ENST00000379561.6 | protein_coding | 3061 | chr13 | TogoVar | |||||||
FOXP2_chr7_114409815_114698765 | 114645126 | CCTAATAT others(42): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0093 | 1 | 172 | 0.0058 | -49 | c.109 others(66): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 8/16 | chr7 | TogoVar | |||||||
FRMD4B_chr3_69163782_69391088 | 69366449 | GTGGGGTG others(42): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01167.hp1 others(40): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(27): Show | a0001c0001t0001g0166 a0001c0001t0001g0195 a0001c0001t0001g0203 others(40): Show |
43 | 222 | 0.1937 | -49 | c.162 others(68): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
FRYL_chr4_48492357_48785279 | 48679887 | AAGTGATA others(42): Show |
A | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 280 | 0.0036 | -49 | c.-81 others(66): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161779753 | GTAAAGTT others(42): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01256.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0084 others(21): Show |
24 | 109 | 0.2202 | -49 | c.410 others(66): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FTMT_chr5_121846882_121857833 | 121852489 | GAATTGCA others(42): Show |
G | frameshift_variant | HIGH | HG01255.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 410 | 0.0024 | -49 | c.527 others(56): Show |
p.Glu others(5): Show |
FTMT | ENSG00000181867.3 | transcript | ENST00000321339.3 | protein_coding | 1/1 | 609/952 | 527/729 | 176/242 | chr5 | TogoVar | |||
FUBP3_chr9_130574577_130643352 | 130589667 | ATGTGTGT others(42): Show |
A | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0213 |
2 | 369 | 0.0054 | -49 | c.85- others(64): Show |
FUBP3 | ENSG00000107164.17 | transcript | ENST00000319725.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FUCA1_chr1_23840077_23873290 | 23853362 | CGGCCAGC others(42): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0170 a0001c0001t0001g0189 others(2): Show |
8 | 378 | 0.0212 | -49 | c.969 others(64): Show |
FUCA1 | ENSG00000179163.12 | transcript | ENST00000374479.4 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65692331 | AGACGGGG others(42): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0296 a0001c0002t0020g0303 |
2 | 372 | 0.0054 | -49 | c.835 others(68): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65692429 | GGACGGGG others(42): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp1 HG01261.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0032 a0001c0001t0002g0043 a0001c0001t0002g0045 others(6): Show |
9 | 371 | 0.0243 | -49 | c.835 others(68): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65692467 | ACCTCCCT others(42): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0360 | 1 | 362 | 0.0028 | -49 | c.835 others(68): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764164 | AAAAAAAA others(42): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01258.hp2 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0083 a0001c0001t0001g0125 a0001c0001t0002g0088 others(2): Show |
5 | 195 | 0.0256 | -49 | c.240 others(66): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764166 | AAAAAAAA others(42): Show |
A | intron_variant | MODIFIER | HG02155.hp1 NA18967.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0003g0099 others(1): Show |
4 | 180 | 0.0222 | -49 | c.240 others(66): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27004087 | TACCTCCC others(42): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0017 | 1 | 91 | 0.0110 | -49 | c.203 others(68): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |