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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMERB1_chr16_15429588_15593259 | 15591594 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02258.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0059a0001c0001t0001g0112a0001c0001t0001g0227others(4): Show | 7 | 291 | 0.0241 | 8 | c.*47 others(19): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40083334 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0017 | a0001c0001t0002g0059a0001c0001t0002g0061a0001c0001t0002g0084others(9): Show | 13 | 414 | 0.0314 | 8 | c.*84 others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4555 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40098464 | A | AGGGGGTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0148a0001c0001t0001g0181a0001c0001t0001g0185others(17): Show | 20 | 414 | 0.0483 | 8 | c.453 others(25): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40106517 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0205a0001c0001t0002g0299a0001c0001t0005g0153others(2): Show | 5 | 414 | 0.0121 | 8 | c.-5- others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40107533 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0115a0001c0001t0001g0137a0001c0001t0001g0148others(13): Show | 16 | 414 | 0.0387 | 8 | c.-6+ others(21): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40108219 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01074.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0072a0001c0001t0001g0073others(29): Show | 36 | 414 | 0.0870 | 8 | c.-6+ others(19): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22165882 | C | CGTGCGTG others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021 | 3 | 418 | 0.0072 | 8 | c.148 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(33): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0162a0001c0001t0001g0163others(32): Show | 36 | 418 | 0.0861 | 8 | c.148 others(23): 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(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03540.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0187a0001c0001t0001g0302others(9): Show | 12 | 418 | 0.0287 | 8 | c.107 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 NA20300.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0010a0001c0007t0001g0011a0001c0007t0001g0012 | 3 | 408 | 0.0074 | 8 | c.148 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(32): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0150a0001c0001t0001g0151others(32): Show | 35 | 408 | 0.0858 | 8 | c.148 others(23): 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(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03540.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0173a0001c0001t0001g0398a0001c0002t0001g0047others(8): Show | 11 | 408 | 0.0270 | 8 | c.107 others(27): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78784843 | C | CAAGAAAA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0007c0008t0001 | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0003g0055others(2): Show | 5 | 204 | 0.0245 | 8 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78786405 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02723.hp1 others(1): Show |
a0001a0005 | a0001c0012a0005c0004 | a0001c0012t0015a0005c0004t0005a0005c0004t0006 | a0001c0012t0015g0032a0005c0004t0005g0033a0005c0004t0005g0037others(1): Show | 4 | 204 | 0.0196 | 8 | c.178 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2K_chr4_78771350_78921365 | 78890404 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp1 others(5): Show |
a0005 | a0005c0004 | a0005c0004t0005a0005c0004t0016 | a0005c0004t0005g0024a0005c0004t0005g0026a0005c0004t0005g0027others(5): Show | 8 | 204 | 0.0392 | 8 | c.206 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6769612 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(56): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0033others(27): Show | 59 | 464 | 0.1272 | 8 | c.-7- others(21): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6769633 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG01358.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0004t0005a0003c0003t0002others(1): Show | a0001c0001t0002g0021a0001c0001t0002g0072a0001c0004t0005g0016others(7): Show | 36 | 464 | 0.0776 | 8 | c.-7- others(21): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BMP2_chr20_6762686_6785246 | 6782313 | A | ATATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02155.hp2 HG02486.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0053others(3): Show | 9 | 464 | 0.0194 | 8 | c.*32 others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 2068 | chr20 | TogoVar | ||||||
BMP2_chr20_6762686_6785246 | 6784487 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0032a0001c0001t0001g0033others(22): Show | 37 | 464 | 0.0797 | 8 | c.*53 others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 4242 | chr20 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55751778 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0014a0001c0002t0009 | a0001c0001t0009g0221a0001c0001t0009g0223a0001c0001t0014g0234others(2): Show | 5 | 320 | 0.0156 | 8 | c.*37 others(19): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55836627 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02965.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0006 | a0001c0002t0001a0001c0002t0006a0001c0008t0001others(1): Show | a0001c0002t0001g0082a0001c0002t0006g0052a0001c0008t0001g0007others(1): Show | 4 | 320 | 0.0125 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55837335 | T | TTAGATAG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0205a0001c0001t0001g0213a0001c0001t0001g0226others(34): Show | 37 | 320 | 0.1156 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55837369 | A | AGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02055.hp1 HG02257.hp1 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0196a0001c0002t0001g0123a0001c0002t0001g0132others(10): Show | 13 | 320 | 0.0406 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55841916 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(38): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(16): Show | a0001c0001t0002g0195a0001c0001t0002g0219a0001c0001t0002g0250others(38): Show | 41 | 320 | 0.1281 | 8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55850390 | A | ATAGATAG others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0027others(2): Show | a0001c0001t0001g0152a0001c0001t0005g0306a0001c0001t0005g0309others(4): Show | 7 | 320 | 0.0219 | 8 | c.490 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7822897 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02080.hp2 HG03130.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0001c0001t0015a0003c0005t0004others(1): Show | a0001c0001t0001g0149a0001c0001t0015g0201a0003c0005t0004g0027others(1): Show | 4 | 308 | 0.0130 | 8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57176750 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01106.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0034others(50): Show | 54 | 272 | 0.1985 | 8 | c.959 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 4/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57187554 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01928.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0203a0001c0001t0002g0077a0001c0001t0002g0091others(9): Show | 12 | 272 | 0.0441 | 8 | c.761 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57205141 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0034others(25): Show | 28 | 272 | 0.1029 | 8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57209249 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02602.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0100others(6): Show | 9 | 272 | 0.0331 | 8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57269737 | C | CGAATGAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01943.hp1 HG02015.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0133a0001c0001t0001g0140a0001c0001t0002g0190others(1): Show | 4 | 272 | 0.0147 | 8 | c.-36 others(19): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3097 | chr20 | TogoVar | ||||||
BMP8B_chr1_39752182_39793865 | 39786703 | C | CTTCACAG others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show |
a0004a0009 | a0004c0006a0004c0012a0009c0017 | a0004c0006t0005a0004c0012t0005a0009c0017t0038 | a0004c0006t0005g0008a0004c0006t0005g0224a0004c0006t0005g0225others(15): Show | 27 | 430 | 0.0628 | 8 | c.334 others(25): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33905359 | G | GAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0225a0001c0001t0002g0231a0001c0002t0001g0224others(5): Show | 8 | 232 | 0.0345 | 8 | c.-25 others(17): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 179 | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33919923 | A | ATATCTAT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0135a0001c0001t0002g0169a0001c0001t0003g0139others(18): Show | 21 | 232 | 0.0905 | 8 | c.219 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34024384 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 NA18966.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0095a0001c0001t0002g0021a0001c0001t0002g0058others(2): Show | 5 | 232 | 0.0216 | 8 | c.577 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34039603 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01256.hp1 others(6): Show |
a0001a0007 | a0001c0002a0001c0005a0007c0022 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0002t0001g0151a0001c0002t0001g0209a0001c0002t0001g0224others(6): Show | 9 | 232 | 0.0388 | 8 | 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 | 34065199 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02055.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0051a0001c0001t0003g0106others(5): Show | 8 | 232 | 0.0345 | 8 | c.107 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34065203 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008 | a0001c0002t0005g0227a0001c0002t0008g0061 | 2 | 232 | 0.0086 | 8 | c.107 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129577 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01257.hp2 HG01496.hp1 others(6): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0028a0001c0003t0001others(4): Show | a0001c0002t0001g0081a0001c0002t0028g0038a0001c0003t0001g0005others(6): Show | 9 | 232 | 0.0388 | 8 | c.174 others(29): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129598 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01070.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0015others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0142a0001c0002t0001g0104others(2): Show | 5 | 232 | 0.0216 | 8 | c.174 others(29): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34129630 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03041.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(3): Show | a0001c0001t0001g0205a0001c0001t0013g0022a0001c0002t0001g0134others(3): Show | 6 | 232 | 0.0259 | 8 | c.174 others(29): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34157965 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp2 NA18612.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0001 | a0001c0001t0001g0184a0001c0001t0011g0124a0001c0002t0001g0134 | 3 | 232 | 0.0129 | 8 | c.*46 others(19): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 1539 | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86766617 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01109.hp1 others(42): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0010others(18): Show | a0001c0002t0006g0011a0001c0002t0006g0025a0001c0002t0006g0126others(42): Show | 45 | 278 | 0.1619 | 8 | 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 | 86791687 | T | TCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0022a0001c0002t0025a0001c0002t0037others(3): Show | a0001c0002t0022g0265a0001c0002t0022g0266a0001c0002t0022g0267others(5): Show | 8 | 278 | 0.0288 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86796490 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01884.hp1 HG01952.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0002t0039a0001c0002t0081others(4): Show | a0001c0002t0006g0163a0001c0002t0039g0013a0001c0002t0081g0169others(5): Show | 8 | 278 | 0.0288 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86797068 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0022a0001c0002t0037a0002c0001t0012others(1): Show | a0001c0002t0022g0265a0001c0002t0022g0266a0001c0002t0022g0267others(3): Show | 6 | 278 | 0.0216 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799469 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02698.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0001c0003t0032a0001c0003t0055others(2): Show | a0001c0003t0014g0007a0001c0003t0014g0008a0001c0003t0032g0004others(5): Show | 8 | 278 | 0.0288 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86805377 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0021a0001c0002t0022others(6): Show | a0001c0002t0003g0103a0001c0002t0021g0074a0001c0002t0021g0154others(14): Show | 17 | 278 | 0.0612 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86809608 | T | TTTTTTCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(144): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(54): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(143): Show | 147 | 278 | 0.5288 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86824081 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02895.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0014a0001c0003t0055a0002c0001t0034 | a0001c0003t0014g0008a0001c0003t0055g0006a0002c0001t0034g0147others(1): Show | 4 | 278 | 0.0144 | 8 | c.-26 others(29): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |