| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BMP7_chr20_57163753_57271641 | 57207811 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(104): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0051others(101): Show | 107 | 272 | 0.3934 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57209243 | ATATTTT | A | intron_variant | MODIFIER | HG01496.hp1 HG02148.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0008a0001c0007t0002 | a0001c0001t0001g0185a0001c0001t0001g0206a0001c0001t0001g0217others(2): Show | 5 | 272 | 0.0184 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57209249 | TTATATA | T | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0171a0001c0001t0003g0029a0001c0002t0001g0016 | 3 | 272 | 0.0110 | -6 | c.612 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57215679 | GGCAGCT | G | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01099.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0046others(19): Show | 23 | 272 | 0.0846 | -6 | c.611 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57232852 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01433.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0048a0001c0001t0001g0057others(22): Show | 26 | 272 | 0.0956 | -6 | c.419 others(23): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
| BMP8A_chr1_39486636_39534869 | 39494346 | TTTTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02109.hp2 others(12): Show |
a0004a0007a0008 | a0004c0004a0007c0016a0008c0010others(1): Show | a0004c0004t0004a0007c0016t0014a0008c0010t0004others(1): Show | a0004c0004t0004g0010a0004c0004t0004g0028a0004c0004t0004g0105others(7): Show | 15 | 362 | 0.0414 | -6 | c.334 others(23): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34020859 | AACACAC | A | intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0001a0001c0001t0022a0001c0001t0031others(2): Show | a0001c0001t0001g0230a0001c0001t0022g0228a0001c0001t0031g0229others(2): Show | 5 | 232 | 0.0216 | -6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34024384 | AATATAT | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0016 | a0001c0002t0004g0177a0001c0002t0004g0178a0001c0002t0005g0072others(1): Show | 4 | 232 | 0.0172 | -6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34031883 | CATATAT | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00642.hp1 others(43): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0095a0001c0001t0001g0122a0001c0001t0001g0130others(43): Show | 46 | 232 | 0.1983 | -6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34031923 | TATATAC | T | intron_variant | MODIFIER | HG02717.hp2 NA19043.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0030 | a0001c0003t0001g0172a0001c0004t0030g0003 | 2 | 232 | 0.0086 | -6 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34039603 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG02647.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0023a0001c0001t0003g0110a0001c0001t0003g0210others(14): Show | 17 | 232 | 0.0733 | -6 | c.577 others(23): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34063379 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01257.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0001others(2): Show | a0001c0001t0001g0138a0001c0001t0017g0101a0001c0002t0001g0039others(2): Show | 5 | 232 | 0.0216 | -6 | c.107 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34065199 | ACTCACT | A | intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0004 | a0001c0001t0001g0192a0001c0001t0003g0215a0001c0004t0004g0017 | 3 | 232 | 0.0129 | -6 | c.107 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34065203 | ACTCTCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00642.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0077a0001c0001t0001g0084a0001c0001t0001g0095others(30): Show | 33 | 232 | 0.1422 | -6 | c.107 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34113620 | TTAATAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0014a0001c0001t0001g0037a0001c0001t0001g0046others(131): Show | 134 | 232 | 0.5776 | -6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34129577 | GGAGAGA | G | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0058a0001c0001t0002g0157a0001c0001t0003g0139others(13): Show | 16 | 232 | 0.0690 | -6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34129604 | GAGAGAA | G | intron_variant | MODIFIER | HG03492.hp1 NA18983.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0002c0006t0001 | a0001c0001t0002g0169a0002c0006t0001g0141 | 2 | 232 | 0.0086 | -6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34130186 | GTCTCTC | G | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0001g0230a0001c0001t0003g0106a0001c0001t0013g0022others(9): Show | 12 | 232 | 0.0517 | -6 | c.174 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34157965 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0024others(10): Show | a0001c0001t0003g0007a0001c0001t0003g0018a0001c0001t0003g0023others(25): Show | 28 | 232 | 0.1207 | -6 | c.*46 others(17): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 1539 | chr7 | TogoVar | ||||||
| BMPR1A_chr10_86751619_86932969 | 86790111 | TTGCCAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(100): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(29): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(99): Show | 103 | 278 | 0.3705 | -6 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BMPR1A_chr10_86751619_86932969 | 86794386 | ATGCTTG | A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0052 | a0001c0002t0010g0170a0001c0002t0010g0191a0001c0002t0010g0194others(1): Show | 4 | 278 | 0.0144 | -6 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BMPR1A_chr10_86751619_86932969 | 86794808 | TTATCTA | T | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0063a0001c0002t0066a0001c0002t0069others(3): Show | a0001c0002t0063g0213a0001c0002t0066g0211a0001c0002t0069g0212others(3): Show | 6 | 278 | 0.0216 | -6 | c.-26 others(27): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94757918 | TGGCGGC | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02080.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(10): Show | 13 | 226 | 0.0575 | -6 | c.-33 others(15): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 36 | chr4 | TogoVar | ||||||
| BMPR1B_chr4_94752955_95163448 | 94761415 | CTGTGTG | C | intron_variant | MODIFIER | HG01255.hp2 HG01346.hp2 HG01361.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0066a0001c0001t0001g0214a0001c0001t0001g0215others(25): Show | 28 | 226 | 0.1239 | -6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94767367 | AATTAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0055 | a0001c0001t0005g0013a0001c0001t0011g0012a0001c0001t0055g0134 | 3 | 226 | 0.0133 | -6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94835647 | TTAAGTA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0088others(20): Show | 23 | 226 | 0.1018 | -6 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94843730 | ATTTTAC | A | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0001t0001g0088others(20): Show | 23 | 226 | 0.1018 | -6 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94862962 | AAAAAAT | A | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01884.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(17): Show | a0001c0001t0005g0013a0001c0001t0005g0017a0001c0001t0005g0022others(23): Show | 26 | 226 | 0.1150 | -6 | c.-18 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
| BMPR1B_chr4_94752955_95163448 | 94869095 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0081a0001c0001t0001g0095a0001c0001t0001g0120others(21): Show | 24 | 226 | 0.1062 | -6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902046 | GGTGTGT | G | intron_variant | MODIFIER | HG03486.hp2 NA19030.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017 | a0001c0001t0001g0088a0001c0001t0001g0190a0001c0001t0008g0207others(1): Show | 4 | 226 | 0.0177 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902082 | TGTGTGG | T | intron_variant | MODIFIER | HG01515.hp1 HG02132.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0146a0001c0001t0001g0163a0001c0001t0002g0043others(3): Show | 6 | 226 | 0.0266 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902216 | TCACACA | T | intron_variant | MODIFIER | HG01496.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0040 | a0001c0001t0003g0143a0001c0001t0040g0142 | 2 | 226 | 0.0089 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902245 | CACACAG | C | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0066a0001c0001t0001g0084a0001c0001t0001g0087others(14): Show | 17 | 226 | 0.0752 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902247 | CACAGAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01069.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0120a0001c0001t0001g0122a0001c0001t0001g0153others(15): Show | 18 | 226 | 0.0797 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94902249 | CAGAGAG | C | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01192.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0190a0001c0001t0002g0083a0001c0001t0003g0032others(16): Show | 19 | 226 | 0.0841 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 94970280 | TCTTCTC | T | intron_variant | MODIFIER | HG02280.hp2 HG02895.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0060 | a0001c0001t0008g0041a0001c0001t0019g0109a0001c0001t0060g0125 | 3 | 226 | 0.0133 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
| BMPR1B_chr4_94752955_95163448 | 94985509 | CTGTGTG | C | intron_variant | MODIFIER | HG00738.hp1 HG02486.hp2 HG02698.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0016a0001c0001t0018others(4): Show | a0001c0001t0002g0037a0001c0001t0002g0117a0001c0001t0016g0178others(6): Show | 9 | 226 | 0.0398 | -6 | c.-11 others(27): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95049419 | GTTTTTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG03831.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0002a0001c0001t0001g0080a0001c0001t0001g0122others(3): Show | 6 | 226 | 0.0266 | -6 | c.-18 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95053281 | TTGTGTG | T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(3): Show | a0001c0001t0001g0148a0001c0001t0011g0191a0001c0001t0017g0039others(3): Show | 6 | 226 | 0.0266 | -6 | c.-17 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95061160 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01167.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0122a0001c0001t0002g0037a0001c0001t0002g0117others(20): Show | 23 | 226 | 0.1018 | -6 | c.-17 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95071648 | GTGTGTA | G | intron_variant | MODIFIER | HG03654.hp1 HG03654.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0004c0005t0034 | a0001c0001t0003g0036a0004c0005t0034g0140 | 2 | 226 | 0.0089 | -6 | c.-17 others(25): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95114645 | GACACAC | G | intron_variant | MODIFIER | HG02486.hp2 HG06807.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0058 | a0001c0001t0023g0038a0001c0001t0023g0216a0001c0001t0058g0184 | 3 | 226 | 0.0133 | -6 | c.144 others(19): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202380911 | GCCTGGC | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(76): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0004others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0005g0015a0001c0001t0005g0073a0001c0001t0005g0084others(76): Show | 79 | 224 | 0.3527 | -6 | c.76+ others(21): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202393882 | CGAGAGA | C | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0003g0022a0001c0001t0004g0220a0001c0001t0007g0147others(3): Show | 6 | 224 | 0.0268 | -6 | c.76+ others(23): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202436312 | AGCCTGC | A | intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 HG03471.hp1 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0038a0001c0001t0039a0005c0004t0037 | a0001c0001t0038g0136a0001c0001t0039g0137a0005c0004t0037g0135 | 3 | 224 | 0.0134 | -6 | c.77- others(23): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202448924 | GGTGTGT | G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01099.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0023others(1): Show | a0001c0001t0004g0132a0001c0001t0004g0211a0001c0001t0004g0213others(8): Show | 11 | 224 | 0.0491 | -6 | c.77- others(23): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202456063 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 NA18906.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0013others(1): Show | a0001c0001t0005g0015a0001c0001t0005g0152a0001c0001t0010g0041others(2): Show | 5 | 224 | 0.0223 | -6 | c.77- others(21): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202457557 | TATATAG | T | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(6): Show |
a0001a0006 | a0001c0002a0006c0006 | a0001c0002t0002a0001c0002t0018a0001c0002t0046others(1): Show | a0001c0002t0002g0058a0001c0002t0002g0060a0001c0002t0002g0068others(6): Show | 9 | 224 | 0.0402 | -6 | c.77- others(21): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202457559 | TATAGAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0006a0001c0001t0047a0001c0002t0002others(3): Show | a0001c0001t0006g0062a0001c0001t0006g0063a0001c0001t0006g0079others(19): Show | 22 | 224 | 0.0982 | -6 | c.77- others(21): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BMPR2_chr2_202371327_202572749 | 202457561 | TAGAGAG | T | intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02155.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0012others(1): Show | a0001c0001t0006g0053a0001c0001t0006g0082a0001c0002t0002g0035others(10): Show | 13 | 224 | 0.0580 | -6 | c.77- others(21): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |