view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BHLHE23_chr20_63000927_63011964 | 63010609 | G | GAGTTCTC others(12): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 444 | 0.0023 | 19 | c.-38 others(30): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 3646 | chr20 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 17 | 0.0588 | 19 | c.191 others(38): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32135068 | T | TCCCCTTC others(12): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0272 | 1 | 288 | 0.0035 | 19 | c.213 others(38): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384640 | T | TCTTCTTC others(12): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG03225.hp2 NA18968.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0002 | a0001c0001t0006g0157 a0001c0001t0009g0086 a0001c0002t0002g0276 |
3 | 223 | 0.0135 | 19 | c.*70 others(30): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1008 | chr12 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128 | 1 | 181 | 0.0055 | 19 | c.225 others(36): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0021 | a0002c0003t0021g0036 | 1 | 181 | 0.0055 | 19 | c.225 others(36): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0240 | 1 | 184 | 0.0054 | 19 | c.81+ others(34): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32444031 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0022 | 1 | 248 | 0.0040 | 19 | c.433 others(36): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 74 | 0.0135 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0159 | 1 | 74 | 0.0135 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0157 | 1 | 74 | 0.0135 | 19 | c.475 others(38): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0089 a0001c0001t0003g0209 |
2 | 55 | 0.0364 | 19 | c.103 others(38): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLCAP_chr20_37512417_37532876 | 37526541 | A | ACGCGTGG others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 |
2 | 402 | 0.0050 | 19 | c.-17 others(38): Show |
BLCAP | ENSG00000166619.15 | transcript | ENST00000373537.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
BLID_chr11_122110340_122121215 | 122112091 | A | AAAACAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 432 | 0.0023 | 19 | c.*35 others(30): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3248 | chr11 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11562906 | G | GGGGTAGG others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0027 | 1 | 306 | 0.0033 | 19 | c.118 others(34): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276489 | C | CTCTCCCT others(12): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 376 | 0.0027 | 19 | c.398 others(35): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 3 | 259 | 0.0116 | 19 | c.*33 others(28): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02132.hp1 HG03471.hp1 others(1): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0006c0014others(1): Show | a0001c0001t0001a0001c0003t0006a0006c0014t0001others(1): Show | a0001c0001t0001g0123 a0001c0003t0006g0196 a0006c0014t0001g0117 others(1): Show |
4 | 75 | 0.0533 | 19 | c.749 others(36): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01515.hp1 others(6): Show |
a0001a0013 | a0001c0001a0001c0003a0013c0045 | a0001c0001t0001a0001c0003t0001a0013c0045t0001 | a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0258 others(6): Show |
9 | 19 | 0.4737 | 19 | c.109 others(40): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 32 | 0.0313 | 19 | c.45- others(36): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13288394 | T | TTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0305 a0001c0001t0003g0303 |
2 | 129 | 0.0155 | 19 | c.-26 others(40): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13291805 | G | GTACTCTG others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(281): Show |
287 | 312 | 0.9199 | 19 | c.-26 others(40): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01361.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0186 others(2): Show |
5 | 21 | 0.2381 | 19 | c.32- others(34): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360813 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0217 | 1 | 308 | 0.0032 | 19 | c.32- others(34): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02015.hp1 HG02071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0001g0263 a0001c0001t0002g0205 others(1): Show |
4 | 18 | 0.2222 | 19 | c.106 others(36): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMP10_chr2_68855909_68876397 | 68869232 | G | GAAGCAGT others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0020 a0001c0002t0013g0041 |
4 | 414 | 0.0097 | 19 | c.334 others(36): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
BMP10_chr2_68855909_68876397 | 68869234 | A | AGCAGTGC others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(340): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0013 others(60): Show |
343 | 410 | 0.8366 | 19 | c.334 others(36): Show |
BMP10 | ENSG00000163217.2 | transcript | ENST00000295379.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18980.hp2 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0026 a0003c0005t0004g0284 |
2 | 98 | 0.0204 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02486.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0169 a0001c0001t0003g0062 a0001c0001t0013g0303 others(2): Show |
5 | 101 | 0.0495 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001a0005 | a0001c0001a0005c0016 | a0001c0001t0001a0005c0016t0001 | a0001c0001t0001g0170 a0005c0016t0001g0101 |
2 | 98 | 0.0204 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0180 |
2 | 98 | 0.0204 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 97 | 0.0103 | 19 | c.665 others(38): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01069.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0001g0119 others(34): Show |
37 | 77 | 0.4805 | 19 | c.858 others(36): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 104 | 0.0096 | 19 | c.577 others(38): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86799507 | T | TTCCTTCC others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0039 | a0001c0002t0006g0011 a0001c0002t0039g0012 |
2 | 269 | 0.0074 | 19 | c.-26 others(40): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86883549 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0037 | 1 | 139 | 0.0072 | 19 | c.68- others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0182 | 1 | 12 | 0.0833 | 19 | c.76+ others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0222 | 1 | 12 | 0.0833 | 19 | c.76+ others(34): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02683.hp1 HG03704.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0026 a0001c0002t0002g0108 a0001c0002t0002g0222 |
3 | 138 | 0.0217 | 19 | c.77- others(36): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202434908 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 136 | 0.0074 | 19 | c.77- others(36): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG02056.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0183 others(4): Show |
7 | 16 | 0.4375 | 19 | c.418 others(38): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112847778 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0035 a0001c0002t0008g0005 a0001c0002t0008g0034 others(2): Show |
6 | 204 | 0.0294 | 19 | c.474 others(38): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16677578 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0013 | a0013c0018 | a0013c0018t0058 | a0013c0018t0058g0058 | 1 | 13 | 0.0769 | 19 | c.330 others(38): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16811237 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03486.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0049 | a0001c0001t0008g0015 a0001c0001t0008g0174 a0001c0001t0049g0067 |
3 | 171 | 0.0175 | 19 | c.3+5 others(34): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BOC_chr3_113206557_113292459 | 113260677 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0372 | 1 | 373 | 0.0027 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260687 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0049 | 1 | 366 | 0.0027 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260697 | C | CAGAACAG others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0013 | a0001c0013t0038 | a0001c0013t0038g0204 | 1 | 382 | 0.0026 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOC_chr3_113206557_113292459 | 113260708 | A | AGAACAGA others(12): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0175 | 1 | 384 | 0.0026 | 19 | c.377 others(36): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BOLA2_chr16_29448593_29459351 | 29450761 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 52 | 0.0192 | 19 | c.*28 others(30): Show |
BOLA2 | ENSG00000183336.9 | transcript | ENST00000330978.4 | protein_coding | 2831 | chr16 | TogoVar | |||||||
BORCS8_chr19_19171906_19197152 | 19174385 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 105 | 0.0095 | 19 | c.*30 others(30): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 2520 | chr19 | TogoVar |