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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS16_chr5_5135330_5325304 | 5305337 | A | ACACACAC others(724): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0052 | a0001c0052t0006 | a0001c0052t0006g0236 | 1 | 332 | 0.0030 | 731 | c.318 others(750): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(724): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 416 | 0.0024 | 731 | c.*10 others(744): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 242 | 0.0041 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0088 | 1 | 242 | 0.0041 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 242 | 0.0041 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(724): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 242 | 0.0041 | 731 | c.927 others(748): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0238 | 1 | 363 | 0.0028 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 HG01981.hp2 others(11): Show |
a0001a0002a0007 | a0001c0006a0001c0011a0001c0069others(10): Show | a0001c0006t0001a0001c0011t0001a0001c0011t0003others(11): Show | a0001c0006t0001g0008a0001c0011t0001g0015a0001c0011t0003g0144others(11): Show | 14 | 363 | 0.0386 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0007 | a0007c0053 | a0007c0053t0001 | a0007c0053t0001g0016 | 1 | 363 | 0.0028 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(724): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0007 | a0007c0053 | a0007c0053t0001 | a0007c0053t0001g0010 | 1 | 363 | 0.0028 | 731 | c.37+ others(744): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1860455 | T | TCCCTCCT others(724): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02922.hp2 |
a0001a0012 | a0001c0003a0012c0130 | a0001c0003t0026a0012c0130t0073 | a0001c0003t0026g0190a0012c0130t0073g0342 | 2 | 363 | 0.0055 | 731 | c.481 others(746): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02280.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0032others(3): Show | a0001c0001t0012g0296a0001c0001t0012g0298a0001c0001t0013g0302others(9): Show | 12 | 308 | 0.0390 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0263 | 1 | 308 | 0.0033 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp1 others(31): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0060a0002c0002t0001g0061a0002c0002t0001g0063others(31): Show | 34 | 308 | 0.1104 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0106 | 1 | 308 | 0.0033 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428421 | C | CCATCATC others(724): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18982.hp1 NA19070.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0273a0002c0002t0003g0274a0002c0002t0003g0275 | 3 | 308 | 0.0097 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130428423 | A | ATCATCAT others(724): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02040.hp2 HG02056.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0243a0001c0001t0001g0245a0001c0001t0001g0253others(22): Show | 25 | 308 | 0.0812 | 731 | c.-28 others(750): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1/29 | chr8 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487564 | A | AGACGGGG others(724): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 292 | 0.0034 | 731 | c.207 others(752): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835489 | G | GCCCCCAC others(724): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 391 | 0.0026 | 731 | c.*36 others(742): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3472 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835528 | A | AGCCCCCA others(724): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 731 | c.*36 others(742): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3511 | chr19 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(724): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0162 | 1 | 214 | 0.0047 | 731 | c.92+ others(748): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAC others(724): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0055 | 1 | 460 | 0.0022 | 731 | c.193 others(748): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(724): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0178 | 1 | 284 | 0.0035 | 731 | c.411 others(748): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCTCAGAT others(724): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0067 | 1 | 106 | 0.0094 | 731 | c.169 others(750): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(724): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0045 | a0045c0059 | a0045c0059t0001 | a0045c0059t0001g0094 | 1 | 104 | 0.0096 | 731 | c.830 others(748): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0020 | 1 | 168 | 0.0060 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0026 | 1 | 168 | 0.0060 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(724): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0009 | 1 | 168 | 0.0060 | 731 | c.-26 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361435 | G | GGGGGAGG others(724): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 168 | 0.0060 | 731 | c.-27 others(740): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 87 | chr20 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0134 | 1 | 324 | 0.0031 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0114a0002c0003t0003g0115a0002c0003t0003g0117others(1): Show | 4 | 324 | 0.0124 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG02976.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0104 | 2 | 324 | 0.0062 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
CRLF3_chr17_30777684_30829692 | 30792923 | G | GAGGCGGG others(724): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0028a0001c0002t0002g0047a0001c0002t0002g0066others(4): Show | 7 | 324 | 0.0216 | 731 | c.827 others(746): Show |
CRLF3 | ENSG00000176390.12 | transcript | ENST00000324238.7 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGAGG others(724): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | 731 | c.158 others(748): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(724): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0011 | 1 | 88 | 0.0114 | 731 | c.158 others(748): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27999085 | A | ATGTATAT others(724): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0024 | a0024c0037 | a0024c0037t0002 | a0024c0037t0002g0270 | 1 | 292 | 0.0034 | 731 | c.*49 others(742): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4188 | chr13 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(724): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 308 | 0.0033 | 731 | c.157 others(746): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 | 1 | 230 | 0.0044 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01258.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0127a0001c0001t0001g0131 | 3 | 230 | 0.0130 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 230 | 0.0044 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00673.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0009 | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0002t0001g0096a0001c0002t0002g0113a0001c0003t0003g0008others(17): Show | 20 | 230 | 0.0870 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0157 | 1 | 230 | 0.0044 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 230 | 0.0044 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(724): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 230 | 0.0044 | 731 | c.126 others(748): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
GRINA_chr8_143985056_143998415 | 143988242 | T | TGGGTTCA others(724): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 HG02622.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0004g0002 | 13 | 352 | 0.0369 | 731 | c.-19 others(742): Show |
GRINA | ENSG00000178719.17 | transcript | ENST00000395068.9 | protein_coding | 1813 | chr8 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(724): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 376 | 0.0027 | 731 | c.666 others(748): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322309 | A | ATATATGC others(724): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0188 | 1 | 323 | 0.0031 | 731 | c.-27 others(742): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2660 | chr21 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(724): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 731 | c.-27 others(742): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(724): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0080 | 1 | 88 | 0.0114 | 731 | c.507 others(750): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471488 | A | ATATATAA others(724): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 260 | 0.0039 | 731 | c.125 others(748): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |