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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0007a0001c0001t0047a0001c0001t0062others(8): Show | a0001c0001t0007g0211a0001c0001t0007g0212a0001c0001t0007g0218others(30): Show | 33 | 350 | 0.0943 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0284 | 1 | 350 | 0.0029 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1073): Show |
3_prime_UTR_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0109 | a0001c0002t0109g0159 | 1 | 350 | 0.0029 | 1080 | c.*23 others(1091): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADCK5_chr8_144369047_144398242 | 144382058 | C | CAGGATTA others(1073): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 346 | 0.0029 | 1080 | c.117 others(1095): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 334 | 0.0030 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 334 | 0.0030 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 334 | 0.0030 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350155 | C | CAGGGGAA others(1073): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 334 | 0.0030 | 1080 | c.838 others(1095): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758169 | A | ATTCCGAC others(1073): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0099 | 1 | 300 | 0.0033 | 1080 | c.655 others(1099): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160652904 | T | TGTATTGC others(1073): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0109 | 1 | 236 | 0.0042 | 1080 | c.676 others(1097): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(1073): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 391 | 0.0026 | 1080 | c.*36 others(1091): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144280939 | G | GTTTAATA others(1073): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 398 | 0.0025 | 1080 | c.310 others(1097): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1073): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108 | 2 | 326 | 0.0061 | 1080 | c.327 others(1097): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882024 | C | CAGGGGGA others(1073): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0286 | 1 | 288 | 0.0035 | 1080 | c.303 others(1099): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG02922.hp1 |
a0001a0002 | a0001c0007a0002c0008a0002c0009 | a0001c0007t0010a0002c0008t0001a0002c0009t0035 | a0001c0007t0010g0018a0002c0008t0001g0028a0002c0009t0035g0026 | 3 | 106 | 0.0283 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0090 | 1 | 106 | 0.0094 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61331588 | G | GCCCACCT others(1073): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0032a0001c0001t0011g0033 | 2 | 106 | 0.0189 | 1080 | c.169 others(1099): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1073): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0018 | a0018c0028 | a0018c0028t0001 | a0018c0028t0001g0134 | 1 | 384 | 0.0026 | 1080 | c.273 others(1095): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1073): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0023 | a0023c0032 | a0023c0032t0003 | a0023c0032t0003g0317 | 1 | 384 | 0.0026 | 1080 | c.273 others(1095): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1073): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0202 | 1 | 278 | 0.0036 | 1080 | c.328 others(1097): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262037 | A | ACAGGGCA others(1073): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0276 | 1 | 290 | 0.0035 | 1080 | c.-95 others(1099): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(1073): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 236 | 0.0042 | 1080 | c.361 others(1099): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GGGGCAGG others(1073): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0199 | 1 | 344 | 0.0029 | 1080 | c.85- others(1097): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0009 | a0004c0009t0003 | a0004c0009t0003g0122 | 1 | 372 | 0.0027 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0324 | 1 | 372 | 0.0027 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03239.hp1 HG03688.hp2 others(1): Show |
a0001a0003a0004 | a0001c0003a0003c0007a0004c0009 | a0001c0003t0049a0003c0007t0005a0003c0007t0035others(1): Show | a0001c0003t0049g0274a0003c0007t0005g0259a0003c0007t0035g0025others(1): Show | 4 | 372 | 0.0108 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1073): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0074a0001c0001t0006g0075 | 2 | 372 | 0.0054 | 1080 | c.180 others(1099): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240980362 | C | CAGGCTCA others(1073): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 350 | 0.0029 | 1080 | c.440 others(1099): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1073): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 276 | 0.0036 | 1080 | c.*51 others(1091): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932925 | G | GAGAGGAA others(1073): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0032 | 1 | 386 | 0.0026 | 1080 | c.198 others(1097): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933405 | G | GAGAGGAA others(1073): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0252 | 1 | 386 | 0.0026 | 1080 | c.198 others(1095): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933543 | A | AGGAGAGG others(1073): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0040 | 1 | 386 | 0.0026 | 1080 | c.198 others(1095): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400664 | A | ACCACCTC others(1073): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0063 | a0001c0063t0002 | a0001c0063t0002g0163 | 1 | 256 | 0.0039 | 1080 | c.323 others(1099): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1073): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 374 | 0.0027 | 1080 | c.*14 others(1091): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1073): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 374 | 0.0027 | 1080 | c.*14 others(1091): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492449 | G | GATGGATG others(1073): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0036a0001c0007t0003g0085 | 3 | 374 | 0.0080 | 1080 | c.772 others(1095): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050236 | G | GCCCTTAC others(1073): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 400 | 0.0025 | 1080 | c.102 others(1095): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355621 | G | GGAGGAAG others(1073): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 82 | 0.0122 | 1080 | c.757 others(1095): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241973 | A | ACACACCC others(1073): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 183 | 0.0055 | 1080 | c.107 others(1099): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132243014 | C | CCCCTTCC others(1073): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02135.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0127a0001c0007t0001g0138 | 2 | 183 | 0.0109 | 1080 | c.107 others(1099): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(1073): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 143 | 0.0070 | 1080 | c.*35 others(1091): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544877 | T | TACCACCT others(1073): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0010 | a0010c0014 | a0010c0014t0040 | a0010c0014t0040g0075 | 1 | 134 | 0.0075 | 1080 | c.520 others(1101): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
IGFN1_chr1_201185824_201233952 | 201210369 | G | GAGGGAAT others(1073): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp2 | a0047 | a0047c0128 | a0047c0128t0004 | a0047c0128t0004g0139 | 1 | 428 | 0.0023 | 1080 | c.550 others(1089): Show |
p.Lys others(1095): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 5632/11811 | 5501/11127 | 1834/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
KIF25_chr6_167992671_168050091 | 167997207 | T | TGGGGGCG others(1073): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0024 | a0005c0024t0002 | a0005c0024t0002g0261 | 1 | 375 | 0.0027 | 1080 | c.-22 others(1091): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 463 | chr6 | TogoVar | ||||||
LEO1_chr15_51933025_51976778 | 51972555 | C | CGCTCACG others(1073): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(108): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0001a0001c0006t0001a0001c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0014others(89): Show | 111 | 388 | 0.2861 | 1080 | c.-81 others(1089): Show |
LEO1 | ENSG00000166477.13 | transcript | ENST00000299601.10 | protein_coding | 778 | chr15 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877187 | T | TTCACCGC others(1073): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0003 | a0003c0009 | a0003c0009t0068 | a0003c0009t0068g0164 | 1 | 292 | 0.0034 | 1080 | c.220 others(1099): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3583378 | A | ACAGCCAC others(1073): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 292 | 0.0034 | 1080 | c.377 others(1097): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1073): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0037 | a0002c0037t0001 | a0002c0037t0001g0026 | 1 | 292 | 0.0034 | 1080 | c.377 others(1097): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1073): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0054 | a0054c0099 | a0054c0099t0052 | a0054c0099t0052g0201 | 1 | 292 | 0.0034 | 1080 | c.377 others(1097): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1073): Show |
downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 382 | 0.0026 | 1080 | c.*49 others(1091): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar |