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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0008a0001c0004t0005 | a0001c0001t0003g0041a0001c0002t0008g0039a0001c0002t0008g0042others(2): Show | 5 | 299 | 0.0167 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37398694 | C | CTGTCTCA others(3129): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0299 | 1 | 299 | 0.0033 | 3136 | c.38+ others(3151): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3129): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0068 | a0001c0068t0001 | a0001c0068t0001g0151 | 1 | 184 | 0.0054 | 3136 | c.280 others(3157): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2377946 | G | GCTGTGTT others(3129): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 384 | 0.0026 | 3136 | c.215 others(3153): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3129): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 264 | 0.0038 | 3136 | c.400 others(3155): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3129): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 318 | 0.0031 | 3136 | c.-91 others(3157): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3129): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 274 | 0.0037 | 3136 | c.307 others(3155): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3129): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0026 | 1 | 274 | 0.0037 | 3136 | c.307 others(3155): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3129): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0053 | 1 | 128 | 0.0078 | 3136 | c.68- others(3153): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3129): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03579.hp2 HG03669.hp1 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0001a0001c0004t0044a0002c0005t0002 | a0001c0004t0001g0072a0001c0004t0044g0023a0002c0005t0002g0084 | 3 | 128 | 0.0234 | 3136 | c.68- others(3153): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3130): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0326 | 1 | 352 | 0.0028 | 3137 | c.839 others(3154): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3130): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 264 | 0.0038 | 3137 | c.400 others(3156): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(3130): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0080 | 1 | 295 | 0.0034 | 3137 | c.126 others(3156): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1162208 | C | CCAGCACT others(3130): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 203 | 0.0049 | 3137 | c.-12 others(3156): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 NA18522.hp2 |
a0003a0004a0005 | a0003c0039a0004c0009a0005c0016 | a0003c0039t0002a0004c0009t0016a0005c0016t0010 | a0003c0039t0002g0128a0004c0009t0016g0065a0005c0016t0010g0094 | 3 | 128 | 0.0234 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0096 | 1 | 128 | 0.0078 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0028 | 1 | 128 | 0.0078 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0004 | 1 | 128 | 0.0078 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0001 | a0002c0001t0022 | a0002c0001t0022g0010 | 1 | 128 | 0.0078 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0097 | 1 | 128 | 0.0078 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3130): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02145.hp1 HG02258.hp1 others(1): Show |
a0001a0002a0005 | a0001c0012a0002c0014a0002c0020others(1): Show | a0001c0012t0015a0002c0014t0003a0002c0020t0011others(1): Show | a0001c0012t0015g0083a0002c0014t0003g0052a0002c0020t0011g0054others(1): Show | 4 | 128 | 0.0313 | 3137 | c.68- others(3154): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3131): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0124 | 1 | 264 | 0.0038 | 3138 | c.400 others(3157): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3131): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 274 | 0.0037 | 3138 | c.307 others(3157): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03927.hp2 |
a0001 | a0001c0007a0001c0024 | a0001c0007t0005a0001c0024t0006 | a0001c0007t0005g0110a0001c0024t0006g0041 | 2 | 128 | 0.0156 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0023a0001c0003t0001a0001c0003t0025others(3): Show | a0001c0002t0023g0022a0001c0003t0001g0046a0001c0003t0025g0006others(3): Show | 6 | 128 | 0.0469 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0049 | 1 | 128 | 0.0078 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0033 | a0003c0033t0018 | a0003c0033t0018g0078 | 1 | 128 | 0.0078 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0009a0001c0004t0001 | a0001c0002t0009g0037a0001c0004t0001g0123 | 2 | 128 | 0.0156 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0050 | 1 | 128 | 0.0078 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03225.hp2 |
a0002 | a0002c0010a0002c0038 | a0002c0010t0002a0002c0038t0002 | a0002c0010t0002g0121a0002c0038t0002g0026 | 2 | 128 | 0.0156 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0006 | a0006c0040 | a0006c0040t0031 | a0006c0040t0031g0077 | 1 | 128 | 0.0078 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01106.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0009others(13): Show | a0001c0002t0001g0033a0001c0002t0001g0079a0001c0002t0004g0115others(14): Show | 17 | 128 | 0.1328 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0001c0013a0002c0001others(3): Show | a0001c0004t0005a0001c0004t0047a0001c0013t0005others(4): Show | a0001c0004t0005g0101a0001c0004t0047g0031a0001c0013t0005g0107others(4): Show | 7 | 128 | 0.0547 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0091 | 1 | 128 | 0.0078 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG03195.hp2 |
a0002 | a0002c0001a0002c0005 | a0002c0001t0007a0002c0001t0037a0002c0005t0012 | a0002c0001t0007g0122a0002c0001t0037g0093a0002c0005t0012g0008 | 3 | 128 | 0.0234 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3131): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0034a0001c0003t0045 | a0001c0003t0034g0042a0001c0003t0045g0047 | 2 | 128 | 0.0156 | 3138 | c.68- others(3155): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3131): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0192 | 1 | 350 | 0.0029 | 3138 | c.192 others(3153): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3132): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0039 | a0001c0039t0005 | a0001c0039t0005g0178 | 1 | 184 | 0.0054 | 3139 | c.280 others(3160): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3132): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 264 | 0.0038 | 3139 | c.400 others(3158): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3132): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 318 | 0.0031 | 3139 | c.-91 others(3160): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3132): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194a0001c0001t0002g0198 | 2 | 206 | 0.0097 | 3139 | c.84- others(3156): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3132): Show |
intron_variant | MODIFIER | NA19064.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195a0001c0001t0002g0200 | 2 | 206 | 0.0097 | 3139 | c.84- others(3156): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125316601 | A | ACTGAGTA others(3132): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02129.hp2 HG02451.hp2 others(8): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0004a0001c0003t0054a0001c0004t0046others(7): Show | a0001c0002t0004g0098a0001c0002t0004g0112a0001c0003t0054g0120others(8): Show | 11 | 128 | 0.0859 | 3139 | c.68- others(3156): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3132): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012 | 1 | 44 | 0.0227 | 3139 | c.296 others(3156): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MRPS36_chr5_69212760_69235158 | 69222008 | A | AGTACAAA others(3133): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18953.hp2 NA18970.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0020a0001c0001t0001g0136others(4): Show | 11 | 409 | 0.0269 | 3140 | c.42+ others(3155): Show |
MRPS36 | ENSG00000134056.12 | transcript | ENST00000256441.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3133): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 206 | 0.0049 | 3140 | c.84- others(3157): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3133): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 206 | 0.0049 | 3140 | c.84- others(3157): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35829527 | G | GTAGAGAT others(3133): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 206 | 0.0049 | 3140 | c.84- others(3157): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3133): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 214 | 0.0047 | 3140 | c.206 others(3159): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar |