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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG03540.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(3): Show | a0001c0001t0003g0120a0001c0001t0007g0122a0001c0001t0017g0266others(3): Show | 6 | 376 | 0.0160 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG01255.hp1 HG03471.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0036a0002c0002t0003a0003c0003t0003 | a0001c0001t0036g0118a0002c0002t0003g0116a0003c0003t0003g0117 | 3 | 376 | 0.0080 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(79): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0166a0001c0001t0001g0258a0001c0001t0001g0279others(79): Show | 82 | 376 | 0.2181 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0354 | 1 | 376 | 0.0027 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0005 | a0003c0005t0010 | a0003c0005t0010g0025 | 1 | 376 | 0.0027 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 NA18948.hp1 NA18948.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0005 | a0001c0001t0001a0003c0003t0010a0003c0005t0005 | a0001c0001t0001g0282a0003c0003t0010g0030a0003c0005t0005g0287others(1): Show | 4 | 376 | 0.0106 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0018 | 1 | 376 | 0.0027 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp2 others(6): Show |
a0001a0002a0013 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0050a0001c0020t0002others(3): Show | a0001c0001t0005g0007a0001c0001t0005g0340a0001c0001t0005g0341others(5): Show | 9 | 376 | 0.0239 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02257.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0032a0001c0017t0003others(5): Show | a0001c0001t0004g0350a0001c0001t0032g0033a0001c0017t0003g0131others(6): Show | 9 | 376 | 0.0239 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00544.hp2 others(100): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006a0001c0001t0001g0142a0001c0001t0001g0148others(98): Show | 103 | 376 | 0.2739 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02922.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0019others(3): Show | a0001c0001t0003g0052a0001c0001t0012g0051a0001c0001t0019g0016others(4): Show | 7 | 376 | 0.0186 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0135 | 1 | 376 | 0.0027 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1129): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 HG02809.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0045a0006c0007t0003 | a0001c0001t0045g0172a0006c0007t0003g0041 | 2 | 376 | 0.0053 | 1136 | c.-55 others(1147): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1129): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0080 | 1 | 210 | 0.0048 | 1136 | c.273 others(1153): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1129): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02818.hp2 |
a0004 | a0004c0007 | a0004c0007t0036a0004c0007t0074a0004c0007t0076 | a0004c0007t0036g0226a0004c0007t0074g0227a0004c0007t0076g0225 | 3 | 376 | 0.0080 | 1136 | c.63+ others(1149): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1129): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0222 | 1 | 376 | 0.0027 | 1136 | c.63+ others(1149): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1129): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0228 | 1 | 376 | 0.0027 | 1136 | c.63+ others(1149): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1129): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0004 | a0004c0005 | a0004c0005t0018 | a0004c0005t0018g0077 | 1 | 334 | 0.0030 | 1136 | c.-25 others(1147): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065050 | A | ATAGTATT others(1129): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 334 | 0.0030 | 1136 | c.-25 others(1147): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2185 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065098 | A | ATAGTATT others(1129): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0061 | 1 | 334 | 0.0030 | 1136 | c.-25 others(1147): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2233 | chr11 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939886 | G | GAAAAAGA others(1129): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 258 | 0.0039 | 1136 | c.403 others(1151): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1129): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0004 | a0001c0004t0039 | a0001c0004t0039g0051 | 1 | 369 | 0.0027 | 1136 | c.-50 others(1147): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1129): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 | 1 | 369 | 0.0027 | 1136 | c.-50 others(1147): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1129): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 NA18993.hp1 |
a0001a0002 | a0001c0004a0002c0005 | a0001c0004t0043a0002c0005t0001 | a0001c0004t0043g0052a0002c0005t0001g0043 | 2 | 369 | 0.0054 | 1136 | c.-50 others(1147): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551557 | G | GAGGAGGG others(1129): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 46 | 0.0217 | 1136 | c.-17 others(1155): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1129): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0138 | a0001c0001t0138g0028 | 1 | 276 | 0.0036 | 1136 | c.*65 others(1147): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(1129): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0000 | a0000c0034 | a0000c0034t0001 | a0000c0034t0001g0175 | 1 | 186 | 0.0054 | 1136 | c.450 others(1153): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 187105 | G | GGAGGAAC others(1129): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 350 | 0.0029 | 1136 | c.*20 others(1147): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1884 | chr16 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544867 | G | GGTGAGTG others(1129): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 286 | 0.0035 | 1136 | c.154 others(1155): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1129): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0196 | 1 | 394 | 0.0025 | 1136 | c.-8+ others(1149): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
MYOM2_chr8_2040046_2150456 | 2085831 | G | GCCTCCCA others(1129): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0004 | a0004c0049 | a0004c0049t0001 | a0004c0049t0001g0141 | 1 | 403 | 0.0025 | 1136 | c.164 others(1153): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 2295611 | G | GACAGACA others(1129): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0006 | 1 | 104 | 0.0096 | 1136 | c.-52 others(1157): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295611 | G | GACAGACA others(1129): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0022 | a0001c0022t0016 | a0001c0022t0016g0012 | 1 | 104 | 0.0096 | 1136 | c.-52 others(1157): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1129): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0080 | 1 | 376 | 0.0027 | 1136 | c.*15 others(1147): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1129): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02818.hp2 |
a0002a0008 | a0002c0004a0002c0005a0008c0010 | a0002c0004t0006a0002c0005t0005a0008c0010t0008 | a0002c0004t0006g0298a0002c0005t0005g0258a0008c0010t0008g0179 | 3 | 322 | 0.0093 | 1136 | c.*48 others(1147): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1129): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0311 | 1 | 322 | 0.0031 | 1136 | c.*48 others(1147): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1129): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0003 | a0001c0003t0034 | a0001c0003t0034g0167 | 1 | 340 | 0.0029 | 1136 | c.227 others(1153): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAB37_chr17_74732256_74752335 | 74733484 | G | GTGTGTGG others(1129): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01243.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0002g0004others(14): Show | 31 | 432 | 0.0718 | 1136 | c.-37 others(1147): Show |
RAB37 | ENSG00000172794.20 | transcript | ENST00000392613.10 | protein_coding | 3771 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(1129): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0058 | 1 | 133 | 0.0075 | 1136 | c.351 others(1155): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(1129): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0075 | 1 | 350 | 0.0029 | 1136 | c.440 others(1153): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1346222 | C | CCCCTGTT others(1129): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0113 | 1 | 190 | 0.0053 | 1136 | c.148 others(1157): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1129): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 392 | 0.0026 | 1136 | c.157 others(1155): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1129): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03041.hp2 HG03139.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0016a0004c0005others(1): Show | a0001c0001t0005a0001c0016t0047a0004c0005t0057others(1): Show | a0001c0001t0005g0149a0001c0016t0047g0072a0004c0005t0057g0043others(1): Show | 4 | 174 | 0.0230 | 1136 | c.148 others(1157): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1129): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1136 | c.*24 others(1147): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1129): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 394 | 0.0025 | 1136 | c.129 others(1153): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1129): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 394 | 0.0025 | 1136 | c.129 others(1153): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF493_chr19_21392133_21432577 | 21425080 | T | TGCTGGAG others(1129): Show |
3_prime_UTR_variant | MODIFIER | NA18946.hp1 NA19065.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0248a0002c0002t0014g0250 | 2 | 360 | 0.0056 | 1136 | c.*96 others(1143): Show |
ZNF493 | ENSG00000196268.12 | transcript | ENST00000392288.7 | protein_coding | 4/4 | 97 | chr19 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(1130): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 |
a0010a0011 | a0010c0031a0011c0025 | a0010c0031t0009a0011c0025t0001 | a0010c0031t0009g0006a0011c0025t0001g0094 | 2 | 360 | 0.0056 | 1137 | c.170 others(1158): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(1130): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03139.hp2 HG03209.hp1 others(2): Show |
a0002a0007a0011others(2): Show | a0002c0003a0007c0070a0011c0017others(2): Show | a0002c0003t0003a0007c0070t0009a0011c0017t0003others(2): Show | a0002c0003t0003g0005a0007c0070t0009g0009a0011c0017t0003g0004others(2): Show | 5 | 360 | 0.0139 | 1137 | c.170 others(1158): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668975 | G | GGGGGGGT others(1130): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0026 | 1 | 360 | 0.0028 | 1137 | c.170 others(1158): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |