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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF3H_chr8_116637130_116760823 | 116679898 | GGGAGGGA others(160): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0203a0001c0001t0012g0210a0001c0001t0012g0211others(1): Show | 4 | 336 | 0.0119 | -167 | c.290 others(19): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137440668 | GCCCCCCA others(160): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 392 | 0.0026 | -167 | c.-21 others(15): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857110 | ATGTGTAT others(160): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0004a0001c0008t0015 | a0001c0003t0004g0097a0001c0008t0015g0078 | 2 | 102 | 0.0196 | -167 | c.173 others(21): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133857158 | ATATATAT others(160): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 102 | 0.0098 | -167 | c.173 others(21): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM9B_chrX_9019232_9039127 | 9021309 | ATTATATA others(160): Show |
A | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 258 | 0.0039 | -167 | c.*39 others(11): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2922 | chrX | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95149169 | ATATTATA others(160): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0369 | 1 | 384 | 0.0026 | -167 | c.268 others(19): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
FGF14_chr13_101705804_101921945 | 101845924 | AGTGAACA others(160): Show |
A | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0004 | 1 | 266 | 0.0038 | -167 | c.408 others(19): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
FNIP1_chr5_131636714_131802017 | 131785011 | TATATATG others(160): Show |
T | intron_variant | MODIFIER | NA18955.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0175 | 2 | 328 | 0.0061 | -167 | c.92+ others(17): Show |
FNIP1 | ENSG00000217128.13 | transcript | ENST00000510461.6 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197759614 | CGTATAGA others(160): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 256 | 0.0039 | -167 | c.235 others(17): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GTPBP4_chr10_983434_1024932 | 1010791 | ATCCTGCA others(160): Show |
A | intron_variant | MODIFIER | NA18978.hp1 NA19011.hp2 NA19062.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0016 | a0001c0002t0002g0124a0001c0002t0002g0150a0002c0003t0016g0097 | 3 | 370 | 0.0081 | -167 | c.134 others(17): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HDAC4_chr2_239043168_239406020 | 239184500 | GGGGGGGG others(160): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0158 | 1 | 242 | 0.0041 | -167 | c.339 others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431348 | GCCCCCCA others(160): Show |
G | intron_variant | MODIFIER | HG02735.hp2 NA19063.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154a0001c0002t0002g0156 | 2 | 382 | 0.0052 | -167 | c.154 others(17): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7249885 | AGGAGGCT others(160): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 300 | 0.0033 | -167 | c.652 others(19): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37590603 | TCCAAGAG others(160): Show |
T | intron_variant | MODIFIER | HG03471.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0165a0002c0002t0002g0166 | 2 | 168 | 0.0119 | -167 | c.169 others(21): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGB3BP_chr1_63435770_63528225 | 63473799 | GGGTCAGC others(160): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02738.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0263a0001c0001t0001g0273a0001c0001t0001g0291others(8): Show | 11 | 374 | 0.0294 | -167 | c.254 others(17): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6038147 | CTAACCGG others(160): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0098a0001c0001t0001g0156 | 3 | 233 | 0.0129 | -167 | c.217 others(19): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 18/20 | chr4 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 25070607 | ACAGGTTT others(160): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0043 | a0006c0043t0027 | a0006c0043t0027g0009 | 1 | 254 | 0.0039 | -167 | c.453 others(21): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | chr22 | TogoVar | ||||||
LCOR_chr10_96827298_97000956 | 96941012 | GGGCGGGG others(160): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG03688.hp1 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0104 | a0001c0001t0001g0198a0001c0001t0001g0207a0001c0001t0001g0215others(3): Show | 6 | 288 | 0.0208 | -167 | c.-18 others(19): Show |
LCOR | ENSG00000196233.14 | transcript | ENST00000421806.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859505 | GCAGTGTT others(160): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0047 | a0010c0047t0010 | a0010c0047t0010g0281 | 1 | 294 | 0.0034 | -167 | c.153 others(19): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 950283 | GAGACAAT others(160): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0006others(9): Show | a0001c0004t0001a0001c0004t0004a0001c0005t0001others(11): Show | a0001c0004t0001g0061a0001c0004t0004g0030a0001c0005t0001g0109others(26): Show | 29 | 294 | 0.0986 | -167 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186560 | GGGGAACA others(160): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 350 | 0.0029 | -167 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2429 | chr16 | TogoVar | ||||||
MELTF_chr3_196996740_197034817 | 197030203 | GGGGGGAG others(160): Show |
G | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 420 | 0.0024 | -167 | c.-66 others(9): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 387 | chr3 | TogoVar | ||||||
MORN5_chr9_122154908_122205083 | 122185181 | AAGTAGCT others(160): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 388 | 0.0026 | -167 | c.439 others(19): Show |
MORN5 | ENSG00000185681.13 | transcript | ENST00000373764.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MRM3_chr17_777353_797509 | 790635 | GTGATTGG others(160): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(113): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0003c0008others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0008t0001others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(30): Show | 116 | 440 | 0.2636 | -167 | c.728 others(15): Show |
MRM3 | ENSG00000171861.11 | transcript | ENST00000304478.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYO3B_chr2_170173147_170660167 | 170649096 | GTATATTA others(160): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0013 | a0013c0065 | a0013c0065t0024 | a0013c0065t0024g0131 | 1 | 174 | 0.0058 | -167 | c.373 others(19): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NEURL1_chr10_103488705_103597546 | 103533473 | GATTCTCC others(160): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 312 | 0.0032 | -167 | c.86- others(17): Show |
NEURL1 | ENSG00000107954.11 | transcript | ENST00000369780.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NKD2_chr5_1003802_1043943 | 1022706 | TAGTGGGT others(160): Show |
T | intron_variant | MODIFIER | NA18968.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 319 | 0.0063 | -167 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 196091 | GGGGGGAC others(160): Show |
G | upstream_gene_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 2 | 388 | 0.0052 | -167 | c.-96 others(9): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 669 | chr11 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54776024 | CATGCAGT others(160): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0011 | 1 | 102 | 0.0098 | -167 | c.-29 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54776024 | CATGCAGT others(160): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0011 | 1 | 94 | 0.0106 | -167 | c.-29 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669069 | CATGCTGC others(160): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG02717.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0137a0001c0001t0003g0004 | 3 | 308 | 0.0097 | -167 | c.250 others(17): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PITPNM3_chr17_6446263_6561555 | 6519181 | CAAAAAAT others(160): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp2 others(51): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(42): Show | a0001c0001t0001g0008a0001c0001t0002g0057a0001c0001t0006g0035others(51): Show | 54 | 218 | 0.2477 | -167 | c.226 others(17): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20189027 | AATGAAGA others(160): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(20): Show | a0001c0001t0003g0027a0001c0001t0003g0123a0001c0001t0003g0163others(25): Show | 28 | 180 | 0.1556 | -167 | c.106 others(21): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PPP2R3B_chrX_328933_391907 | 339883 | CGGGGGGG others(160): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005 | 1 | 25 | 0.0400 | -167 | c.135 others(17): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | ||||||
PRDM15_chr21_41793225_41884344 | 41806533 | ATCACTAC others(160): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(64): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0017a0001c0002t0027a0001c0002t0044others(22): Show | a0001c0001t0017g0160a0001c0001t0017g0161a0001c0002t0027g0016others(64): Show | 67 | 406 | 0.1650 | -167 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1703053 | GGGAGGGC others(160): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0181 | 1 | 322 | 0.0031 | -167 | c.201 others(18): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RAB40C_chr16_585066_634268 | 613127 | CTGTAGAA others(160): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0024a0001c0001t0013g0036 | 2 | 350 | 0.0057 | -167 | c.143 others(17): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SCGB1C1_chr11_188078_199575 | 196091 | GGGGGGAC others(160): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0011a0001c0003t0001g0012 | 2 | 354 | 0.0057 | -167 | c.*16 others(11): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1517 | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116938460 | GGAGGAGA others(160): Show |
G | intron_variant | MODIFIER | NA18957.hp1 NA18975.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0056a0001c0001t0002g0057 | 3 | 366 | 0.0082 | -167 | c.455 others(19): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
SLC35E2B_chr1_1656478_1697795 | 1666974 | ACACGCCT others(160): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(273): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(97): Show | a0001c0001t0001g0003a0001c0001t0001g0194a0001c0001t0001g0196others(268): Show | 276 | 348 | 0.7931 | -167 | c.981 others(16): Show |
SLC35E2B | ENSG00000189339.12 | transcript | ENST00000617444.5 | protein_coding | 9/9 | chr1 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 487023 | ACCCACCA others(160): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0174 | 1 | 218 | 0.0046 | -167 | c.675 others(17): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
SUCNR1_chr3_151868643_151889619 | 151884724 | TCCTAGCG others(160): Show |
T | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 456 | 0.0022 | -167 | c.*31 others(11): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 106 | chr3 | TogoVar | ||||||
TAF3_chr10_7813505_8021631 | 7879256 | AATTATAG others(160): Show |
A | intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 344 | 0.0029 | -167 | c.409 others(19): Show |
TAF3 | ENSG00000165632.9 | transcript | ENST00000344293.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48638800 | GCACACAG others(160): Show |
G | intron_variant | MODIFIER | HG02135.hp2 HG02897.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0101a0001c0001t0002g0010a0001c0001t0002g0035others(4): Show | 7 | 258 | 0.0271 | -167 | c.113 others(17): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D12_chr10_94397541_94541332 | 94481288 | CTTCTGTC others(160): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03831.hp2 HG04204.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004 | a0001c0001t0004g0001a0001c0001t0004g0213a0001c0001t0004g0214others(8): Show | 12 | 346 | 0.0347 | -167 | c.121 others(19): Show |
TBC1D12 | ENSG00000108239.9 | transcript | ENST00000225235.5 | protein_coding | 3/12 | chr10 | TogoVar | ||||||
TEKT5_chr16_10622501_10699930 | 10697190 | ATGATATT others(160): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(71): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0006a0003c0004others(2): Show | a0001c0003t0001a0001c0006t0001a0003c0004t0001others(2): Show | a0001c0003t0001g0003a0001c0003t0001g0147a0001c0003t0001g0149others(70): Show | 74 | 388 | 0.1907 | -167 | c.-24 others(11): Show |
TEKT5 | ENSG00000153060.8 | transcript | ENST00000283025.7 | protein_coding | 2261 | chr16 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917097 | TGGGGGTC others(160): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 344 | 0.0029 | -167 | c.218 others(16): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169576 | CTCCCCAC others(160): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 115 | 0.0087 | -167 | c.*28 others(9): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 367 | chrX | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22652221 | CTTTTTTT others(160): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(103): Show |
a0002a0004a0005others(6): Show | a0002c0002a0002c0013a0004c0004others(7): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0037others(20): Show | a0002c0002t0003g0003a0002c0002t0003g0007a0002c0002t0003g0008others(90): Show | 106 | 366 | 0.2896 | -167 | c.-93 others(16): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar |