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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP3B_chr12_100032072_100147874 | 100102110 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0004 a0009c0011t0001g0005 |
2 | 188 | 0.0106 | 10 | c.338 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02015.hp1 HG02055.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0108 others(6): Show |
9 | 188 | 0.0479 | 10 | c.45- others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100124937 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18960.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 |
2 | 188 | 0.0106 | 10 | c.45- others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130951 | T | TACATACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01243.hp1 others(5): Show |
a0003a0007 | a0003c0002a0007c0008 | a0003c0002t0001a0007c0008t0001 | a0003c0002t0001g0036 a0003c0002t0001g0038 a0003c0002t0001g0093 others(5): Show |
8 | 188 | 0.0426 | 10 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100130982 | G | GGAGAGAG others(3): Show |
intron_variant | MODIFIER | NA19078.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0139 |
2 | 188 | 0.0106 | 10 | c.44+ others(27): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100138866 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0004 a0009c0011t0001g0005 |
2 | 188 | 0.0106 | 10 | c.44+ others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140719 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 188 | 0.0053 | 10 | c.44+ others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43758899 | C | CCCCGCCC others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 414 | 0.0024 | 10 | c.-22 others(25): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448606 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 362 | 0.0028 | 10 | c.464 others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0203 |
2 | 362 | 0.0055 | 10 | c.464 others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | ATAACAAC others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18959.hp1 NA18968.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0165 others(2): Show |
5 | 362 | 0.0138 | 10 | c.464 others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40459327 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 362 | 0.0028 | 10 | c.80- others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03654.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 a0001c0002t0001g0180 |
2 | 362 | 0.0055 | 10 | c.80- others(25): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01884.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0136 a0001c0001t0002g0034 a0001c0001t0002g0067 others(3): Show |
7 | 366 | 0.0191 | 10 | c.29- others(25): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01978.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0058 others(7): Show |
10 | 314 | 0.0319 | 10 | c.-19 others(29): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01255.hp2 HG01261.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 others(35): Show |
38 | 314 | 0.1210 | 10 | c.-18 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG02055.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0044 others(23): Show |
26 | 314 | 0.0828 | 10 | c.-13 others(31): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13363127 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 314 | 0.0032 | 10 | c.460 others(27): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19090.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0124 a0001c0001t0001g0200 |
3 | 314 | 0.0096 | 10 | c.460 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0118 a0001c0001t0001g0122 others(16): Show |
19 | 310 | 0.0613 | 10 | c.177 others(27): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCGCGCGC others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0294 | 1 | 310 | 0.0032 | 10 | c.177 others(27): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02300.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0076 a0001c0001t0002g0179 a0001c0001t0002g0180 others(5): Show |
8 | 291 | 0.0275 | 10 | c.106 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15452333 | A | AGAGAGGG others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 291 | 0.0069 | 10 | c.106 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15516285 | G | GCTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 291 | 0.0034 | 10 | c.230 others(25): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15519074 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01069.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0097 a0001c0001t0001g0235 a0001c0001t0001g0240 others(15): Show |
18 | 291 | 0.0619 | 10 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15519087 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0117 a0001c0001t0001g0255 others(19): Show |
22 | 291 | 0.0756 | 10 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15519087 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 291 | 0.0069 | 10 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15526951 | A | AAATATGA others(3): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 291 | 0.0034 | 10 | c.230 others(29): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AAAACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 | 1 | 291 | 0.0034 | 10 | c.*47 others(21): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | AACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG02698.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0044 others(12): Show |
15 | 291 | 0.0516 | 10 | c.*47 others(21): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40083334 | A | AGTGTGTG others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0013 a0001c0001t0002g0080 a0001c0001t0002g0086 others(10): Show |
14 | 414 | 0.0338 | 10 | c.*84 others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0298 others(5): Show |
9 | 414 | 0.0217 | 10 | c.-5- others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40107533 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 414 | 0.0024 | 10 | c.-6+ others(23): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01070.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 others(32): Show |
36 | 414 | 0.0870 | 10 | c.-6+ others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGCGTG others(3): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 418 | 0.0024 | 10 | c.148 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01433.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0132 a0001c0001t0001g0133 others(29): Show |
33 | 418 | 0.0790 | 10 | c.148 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22189433 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02615.hp1 HG02622.hp2 others(14): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0069 others(14): Show |
17 | 418 | 0.0407 | 10 | c.107 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGCGTG others(3): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 408 | 0.0025 | 10 | c.148 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22165882 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01433.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(30): Show |
33 | 408 | 0.0809 | 10 | c.148 others(25): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22189433 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02615.hp1 HG02622.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0060 others(14): Show |
17 | 408 | 0.0417 | 10 | c.107 others(29): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210466 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(12): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0007t0001others(1): Show | a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0194 others(12): Show |
15 | 408 | 0.0368 | 10 | c.282 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210468 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0280 | 1 | 408 | 0.0025 | 10 | c.282 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78772054 | G | GACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 NA18944.hp2 NA18991.hp1 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0087 a0001c0001t0001g0098 a0005c0004t0001g0097 |
3 | 204 | 0.0147 | 10 | c.-44 others(21): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 4295 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02258.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0004 | a0001c0001t0006a0001c0001t0010a0001c0006t0004others(1): Show | a0001c0001t0006g0030 a0001c0001t0010g0137 a0001c0001t0010g0138 others(4): Show |
7 | 204 | 0.0343 | 10 | c.178 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829753 | A | ATCTTTTC others(3): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0099 | 1 | 204 | 0.0049 | 10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829782 | T | TTTCTCTT others(3): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02622.hp2 HG03579.hp2 |
a0005a0012 | a0005c0004a0012c0025 | a0005c0004t0013a0012c0025t0019 | a0005c0004t0013g0107 a0005c0004t0013g0108 a0012c0025t0019g0203 |
3 | 204 | 0.0147 | 10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTCTT others(3): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp2 HG03139.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0022a0003c0005others(3): Show | a0001c0001t0001a0001c0022t0003a0003c0005t0008others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0119 others(7): Show |
10 | 204 | 0.0490 | 10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | T | TTTCTTTT others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18939.hp2 |
a0004a0006 | a0004c0003a0006c0010 | a0004c0003t0001a0006c0010t0001 | a0004c0003t0001g0047 a0006c0010t0001g0106 |
2 | 204 | 0.0098 | 10 | c.297 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78872303 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0024 | a0001c0024t0022 | a0001c0024t0022g0148 | 1 | 204 | 0.0049 | 10 | c.160 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78890404 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0038 | 1 | 204 | 0.0049 | 10 | c.206 others(29): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |