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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(790): Show |
intron_variant | MODIFIER | HG00408.hp1 HG04184.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0185 a0001c0001t0001g0210 |
3 | 4 | 0.7500 | 797 | c.138 others(816): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(790): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01361.hp1 HG01928.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0039 others(10): Show |
19 | 20 | 0.9500 | 797 | c.138 others(816): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(790): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18941.hp1 NA18950.hp2 others(7): Show |
a0001 | a0001c0003a0001c0017 | a0001c0003t0003a0001c0017t0003 | a0001c0003t0003g0053 a0001c0003t0003g0240 a0001c0003t0003g0242 others(6): Show |
10 | 11 | 0.9091 | 797 | c.138 others(816): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(790): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0268 | 1 | 2 | 0.5000 | 797 | c.138 others(816): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(790): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG04184.hp1 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0227 a0001c0001t0001g0264 others(1): Show |
4 | 96 | 0.0417 | 797 | c.*65 others(808): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(790): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG01928.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0025 others(12): Show |
16 | 108 | 0.1481 | 797 | c.*65 others(808): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(790): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 NA18941.hp2 NA18950.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0030 | a0002c0002t0003g0013 a0002c0002t0003g0132 a0002c0002t0003g0137 others(4): Show |
8 | 100 | 0.0800 | 797 | c.*65 others(808): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(790): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0288 | 1 | 93 | 0.0108 | 797 | c.*65 others(808): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(790): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0204 | 1 | 2 | 0.5000 | 797 | c.162 others(818): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(790): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 74 | 0.0135 | 797 | c.937 others(812): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(790): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0005 | a0005c0034 | a0005c0034t0001 | a0005c0034t0001g0163 | 1 | 273 | 0.0037 | 797 | c.85- others(814): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(790): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 426 | 0.0023 | 797 | c.51+ others(812): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(790): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18966.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0036 a0001c0001t0002g0089 |
4 | 356 | 0.0112 | 797 | c.51+ others(812): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(790): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 353 | 0.0028 | 797 | c.51+ others(812): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(790): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18983.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0020 |
3 | 355 | 0.0085 | 797 | c.51+ others(812): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 556272 | A | ACCCCTCC others(790): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 60 | 0.0167 | 797 | c.86- others(814): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
FKBP2_chr11_64236095_64249132 | 64237115 | G | GGGAGAGG others(790): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 323 | 0.0031 | 797 | c.-40 others(808): Show |
FKBP2 | ENSG00000173486.14 | transcript | ENST00000309366.9 | protein_coding | 3979 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(790): Show |
upstream_gene_variant | MODIFIER | NA19059.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 204 | 0.0049 | 797 | c.-36 others(808): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(790): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0221 | 1 | 204 | 0.0049 | 797 | c.-36 others(808): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(790): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02683.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 205 | 0.0098 | 797 | c.-36 others(808): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(790): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 13 | 0.0769 | 797 | c.978 others(814): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(790): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 13 | 0.0769 | 797 | c.978 others(814): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(790): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 a0001c0003t0001g0090 |
2 | 214 | 0.0093 | 797 | c.258 others(814): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(790): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02273.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 a0001c0003t0001g0174 |
2 | 214 | 0.0093 | 797 | c.258 others(814): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(790): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01934.hp1 HG02040.hp2 others(3): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0001a0001c0003t0031a0001c0004t0001others(1): Show | a0001c0003t0001g0088 a0001c0003t0001g0113 a0001c0003t0001g0128 others(3): Show |
6 | 218 | 0.0275 | 797 | c.258 others(814): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(790): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0295 | 1 | 5 | 0.2000 | 797 | c.-41 others(812): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(790): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 304 | 0.0033 | 797 | c.-22 others(808): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(790): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0271 | 1 | 82 | 0.0122 | 797 | c.153 others(816): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237115 | G | GGGAGAGG others(790): Show |
upstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | 797 | c.-41 others(808): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3979 | chr11 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(790): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02040.hp2 HG03704.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0004t0002a0001c0004t0006others(3): Show | a0001c0001t0001g0178 a0001c0001t0001g0206 a0001c0001t0001g0218 others(7): Show |
10 | 15 | 0.6667 | 797 | c.368 others(814): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(790): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0049 | 1 | 6 | 0.1667 | 797 | c.368 others(814): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(790): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 45 | 0.0222 | 797 | c.171 others(814): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579111 | T | TCACCACC others(790): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 | 1 | 327 | 0.0031 | 797 | c.391 others(812): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(790): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0213 | 1 | 125 | 0.0080 | 797 | c.-49 others(808): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(790): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 125 | 0.0080 | 797 | c.-49 others(808): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(790): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG02970.hp1 others(1): Show |
a0001a0010 | a0001c0001a0010c0027 | a0001c0001t0002a0001c0001t0015a0010c0027t0004 | a0001c0001t0002g0021 a0001c0001t0015g0190 a0010c0027t0004g0215 |
4 | 128 | 0.0313 | 797 | c.-49 others(808): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(790): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 8 | 0.1250 | 797 | c.250 others(812): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(790): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 8 | 0.1250 | 797 | c.250 others(812): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(790): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 a0001c0001t0005g0200 |
2 | 5 | 0.4000 | 797 | c.160 others(814): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(790): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 64 | 0.0156 | 797 | c.166 others(816): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64176124 | T | TCTCCTGC others(790): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0011 | a0002c0011t0010 | a0002c0011t0010g0096 | 1 | 208 | 0.0048 | 797 | c.-99 others(816): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(790): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0044 a0001c0004t0001g0191 |
2 | 5 | 0.4000 | 797 | c.279 others(812): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(790): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0187 | 1 | 4 | 0.2500 | 797 | c.279 others(812): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(790): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 243 | 0.0041 | 797 | c.-15 others(808): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(790): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 184 | 0.0054 | 797 | c.533 others(814): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(790): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231 | 1 | 184 | 0.0054 | 797 | c.533 others(814): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(790): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0248 | 1 | 133 | 0.0075 | 797 | c.533 others(814): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(790): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0247 | 1 | 133 | 0.0075 | 797 | c.533 others(814): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(790): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 201 | 0.0050 | 797 | c.139 others(816): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RFX2_chr19_5988164_6115500 | 6070038 | G | GGAATGGG others(790): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18612.hp1 NA18973.hp2 others(5): Show |
a0003a0008 | a0003c0005a0008c0010 | a0003c0005t0001a0008c0010t0001 | a0003c0005t0001g0045 a0003c0005t0001g0047 a0003c0005t0001g0048 others(5): Show |
8 | 269 | 0.0297 | 797 | c.-8- others(814): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar |