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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMIP_chr16_81439808_81716762 | 81517203 | TCAAGGTC others(86): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0087 a0001c0001t0001g0088 others(29): Show |
32 | 266 | 0.1203 | -93 | c.300 others(112): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81585661 | GACACCGC others(86): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0024 others(24): Show |
27 | 266 | 0.1015 | -93 | c.301 others(112): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2980334 | GCCACCAA others(86): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02451.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0032 a0001c0001t0003g0101 a0001c0001t0004g0042 others(13): Show |
16 | 116 | 0.1379 | -93 | c.135 others(112): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245229 | TATATATA others(86): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0192 | 1 | 225 | 0.0044 | -93 | c.358 others(112): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42118830 | TCAAAATC others(86): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp1 HG01106.hp2 others(6): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0043a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0043t0015others(6): Show | a0001c0001t0002g0024 a0001c0001t0003g0104 a0001c0043t0015g0013 others(6): Show |
9 | 27 | 0.3333 | -93 | c.85+ others(110): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CNTRL_chr9_121069955_121182610 | 121092554 | ATATATAT others(86): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 326 | 0.0031 | -93 | c.348 others(110): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121092649 | ATATATAA others(86): Show |
A | intron_variant | MODIFIER | HG03579.hp1 NA18948.hp1 NA18949.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0190 a0003c0004t0002g0124 a0003c0004t0002g0128 |
3 | 328 | 0.0091 | -93 | c.349 others(110): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489659 | TTCTTCCT others(86): Show |
T | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0053 | 1 | 162 | 0.0062 | -93 | c.385 others(112): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489663 | TCCTTCCT others(86): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02486.hp1 HG03139.hp2 others(2): Show |
a0002a0007 | a0002c0003a0002c0004a0007c0016 | a0002c0003t0001a0002c0004t0001a0007c0016t0004 | a0002c0003t0001g0073 a0002c0003t0001g0090 a0002c0004t0001g0102 others(2): Show |
5 | 159 | 0.0314 | -93 | c.385 others(112): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110355292 | TGGGGAGG others(86): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0055 | a0002c0055t0016 | a0002c0055t0016g0250 | 1 | 360 | 0.0028 | -93 | c.100 others(110): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45988191 | CTCCAGAT others(86): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0044 | 1 | 108 | 0.0093 | -93 | c.804 others(108): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314608 | TGCACCTG others(86): Show |
T | downstream_gene_variant | MODIFIER | HG03490.hp2 HG03704.hp2 HG03831.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 others(7): Show |
10 | 150 | 0.0667 | -93 | c.*51 others(104): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4674 | chrX | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67301966 | AAGAAAGA others(86): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03540.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0001a0002c0002t0013 | a0001c0001t0012g0038 a0002c0002t0001g0035 a0002c0002t0013g0026 |
3 | 25 | 0.1200 | -93 | c.580 others(112): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CTRL_chr16_67924574_67936862 | 67934906 | CGGCGGTG others(86): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 310 | 0.0032 | -93 | c.-31 others(104): Show |
CTRL | ENSG00000141086.18 | transcript | ENST00000574481.6 | protein_coding | 3045 | chr16 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232097 | TCACCACT others(86): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0274 others(2): Show |
6 | 366 | 0.0164 | -93 | c.513 others(109): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51774376 | TGTATTCT others(86): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01106.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0250 a0002c0002t0001g0182 a0002c0002t0003g0013 others(16): Show |
24 | 411 | 0.0584 | -93 | c.364 others(108): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1255012 | CGCTGTGT others(86): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0007a0002c0001t0020 | a0002c0001t0007g0038 a0002c0001t0020g0024 |
2 | 39 | 0.0513 | -93 | c.74- others(108): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1642000 | CCCCGCTG others(86): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 30 | 0.0333 | -93 | c.181 others(112): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1642102 | CCCTCACC others(86): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 39 | 0.0256 | -93 | c.181 others(112): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1642842 | GCCGGTCC others(86): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 39 | 0.0256 | -93 | c.181 others(112): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1643653 | TCCTCACC others(86): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 27 | 0.0370 | -93 | c.181 others(114): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1643954 | CCCCGCCG others(86): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 31 | 0.0323 | -93 | c.181 others(114): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1643963 | CCCTCACC others(86): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 33 | 0.0303 | -93 | c.181 others(114): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11730930 | GTGGTGAT others(86): Show |
G | intron_variant | MODIFIER | HG03239.hp2 NA20905.hp1 |
a0006a0063 | a0006c0103a0063c0102 | a0006c0103t0001a0063c0102t0001 | a0006c0103t0001g0134 a0063c0102t0001g0083 |
2 | 176 | 0.0114 | -93 | c.581 others(112): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 28/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154817770 | TGATGGAT others(86): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01071.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(17): Show | a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(17): Show |
20 | 38 | 0.5263 | -93 | c.166 others(114): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF4G3_chr1_20801479_21181897 | 20981555 | CATACATA others(86): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 a0001c0001t0003g0250 |
2 | 101 | 0.0198 | -93 | c.199 others(108): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20981650 | TACATACA others(86): Show |
T | intron_variant | MODIFIER | NA18949.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0039 |
2 | 310 | 0.0065 | -93 | c.199 others(108): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13019641 | TTTGGGAG others(86): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0008 | a0002c0008t0011 | a0002c0008t0011g0021 | 1 | 398 | 0.0025 | -93 | c.-17 others(104): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 1615 | chr17 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 68974821 | AAGTGGAA others(86): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0109 | 1 | 442 | 0.0023 | -93 | c.*27 others(104): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 403 | chr3 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914555 | CTTCCACC others(86): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01258.hp2 HG03098.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0035 a0001c0001t0003g0223 others(4): Show |
7 | 281 | 0.0249 | -93 | c.-13 others(110): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117862428 | ATGTAAAT others(86): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(8): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0002a0001c0003t0007others(4): Show | a0001c0003t0001g0039 a0001c0003t0002g0098 a0001c0003t0002g0106 others(8): Show |
11 | 190 | 0.0579 | -93 | c.963 others(112): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
FBXL12_chr19_9805270_9824079 | 9808134 | CACAATCT others(86): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0064 | 1 | 336 | 0.0030 | -93 | c.*26 others(104): Show |
FBXL12 | ENSG00000127452.9 | transcript | ENST00000247977.9 | protein_coding | 2135 | chr19 | TogoVar | |||||||
FBXO8_chr4_174231658_174288667 | 174265236 | ATAAAAGC others(86): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
2 | 133 | 0.0150 | -93 | c.-8- others(108): Show |
FBXO8 | ENSG00000164117.14 | transcript | ENST00000393674.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
FGL1_chr8_17859389_17900524 | 17882979 | TATATAAT others(86): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
a0004a0008 | a0004c0004a0008c0008 | a0004c0004t0001a0004c0004t0004a0008c0008t0002 | a0004c0004t0001g0039 a0004c0004t0001g0116 a0004c0004t0001g0217 others(3): Show |
7 | 364 | 0.0192 | -93 | c.64- others(106): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860741 | CATATATA others(86): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 46 | 0.0217 | -93 | c.-11 others(114): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240139270 | CACTGTGT others(86): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(70): Show |
a0001a0002a0003others(32): Show | a0001c0006a0001c0008a0001c0068others(54): Show | a0001c0006t0002a0001c0008t0003a0001c0068t0004others(59): Show | a0001c0006t0002g0062 a0001c0006t0002g0063 a0001c0008t0003g0104 others(70): Show |
73 | 172 | 0.4244 | -93 | c.178 others(114): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360829 | CCACTACC others(86): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 211 | 0.0047 | -93 | c.544 others(112): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360922 | GCACCACC others(86): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 172 | 0.0058 | -93 | c.544 others(112): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361513 | ACCTCCAC others(86): Show |
A | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033 | 1 | 211 | 0.0047 | -93 | c.544 others(112): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361714 | AGCACTAC others(86): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 a0001c0001t0002g0107 |
2 | 223 | 0.0090 | -93 | c.544 others(112): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362001 | CACCTCCA others(86): Show |
C | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 222 | 0.0045 | -93 | c.544 others(112): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRMD1_chr6_168048095_168084212 | 168077378 | GGGGGGGT others(86): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 400 | 0.0025 | -93 | c.213 others(110): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127742 | TTCTTCTT others(86): Show |
T | intron_variant | MODIFIER | HG01175.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0099 a0002c0002t0001g0177 |
2 | 244 | 0.0082 | -93 | c.152 others(112): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27388064 | GGTAAGGA others(86): Show |
G | intron_variant | MODIFIER | HG06807.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0005 | a0001c0003t0001g0066 a0001c0005t0005g0037 |
2 | 85 | 0.0235 | -93 | c.574 others(112): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388066 | TAAGGAAG others(86): Show |
T | intron_variant | MODIFIER | HG03098.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0021a0001c0009t0002 | a0001c0001t0021g0072 a0001c0009t0002g0089 |
2 | 90 | 0.0222 | -93 | c.574 others(112): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89292367 | TATATATA others(86): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 1 | 364 | 0.0027 | -93 | c.220 others(110): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292400 | GATATATA others(86): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02896.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0002a0002c0003t0004 | a0001c0001t0006g0307 a0002c0003t0002g0283 a0002c0003t0002g0284 others(4): Show |
7 | 364 | 0.0192 | -93 | c.220 others(110): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132231671 | AGACAGCG others(86): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0140 | 1 | 182 | 0.0055 | -93 | c.107 others(114): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132231694 | CACACACT others(86): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0003a0001c0006a0001c0015others(1): Show | a0001c0003t0001a0001c0006t0001a0001c0015t0001others(1): Show | a0001c0003t0001g0093 a0001c0003t0001g0137 a0001c0006t0001g0097 others(2): Show |
5 | 182 | 0.0275 | -93 | c.107 others(114): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132231758 | TGACAGGG others(86): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 178 | 0.0056 | -93 | c.107 others(114): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar |