Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BID_chr22_17729138_17779469	17756392	TTCTTTCT others(11): Show TTCTTTCTTTTCTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20752.hp2 HG01884.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0331 a0001c0003t0004g0315 a0001c0001t0001g0331 a0001c0003t0004g0315	2	362	0.0055	-18	c.-58 others(35): Show c.-58-6236_-58-6219delGAAAAAAGAAAAGAAAGA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIK_chr22_43105750_43134712	43130416	CCTTTTTT others(11): Show CCTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-18	c.11 others(29): Show c.1112_*1129delCTTTTTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding		705		chr22	TogoVar
BIK_chr22_43105750_43134712	43130417	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	386	0.0026	-18	c.11 others(29): Show c.1113_*1130delTTTTTTTTTTTTTTTTTT	BIK	ENSG00000100290.3	transcript	ENST00000216115.3	protein_coding		706		chr22	TogoVar
BIN1_chr2_127043032_127112154	127102507	TCCACACC others(11): Show TCCACACCTTGGACCATGC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	344	0.0029	-18	c.84+ others(33): Show c.84+4335_84+4352delGCATGGTCCAAGGTGTGG	BIN1	ENSG00000136717.15	transcript	ENST00000316724.10	protein_coding	1/18			chr2	TogoVar
BIRC2_chr11_102342214_102383670	102364164	TATATATA others(11): Show TATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 HG01081.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	344	0.0058	-18	c.112 others(35): Show c.1123+450_1123+467delTATATATATACACACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC5_chr17_78209253_78230635	78218647	GGCTGGAG others(11): Show GGCTGGAGTGCAGTGGCAC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	432	0.0023	-18	c.339 others(35): Show c.339+1868_339+1885delCTGGAGTGCAGTGGCACG	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC5_chr17_78209253_78230635	78223042	TAGACTAG others(11): Show TAGACTAGCTGGGGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00408.hp2 others(162): Show HG00099.hp2 HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01515.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0004t0041	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(47): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0004g0005 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0005g0008 a0001c0001t0005g0052 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0006g0029 a0001c0001t0006g0072 a0001c0001t0015g0001 a0001c0001t0017g0005 a0001c0001t0018g0036 a0001c0001t0019g0005 a0001c0001t0019g0078 a0001c0001t0020g0001 a0001c0001t0022g0004 a0001c0001t0023g0001 a0001c0001t0033g0004 a0001c0001t0034g0004 a0001c0001t0035g0004 a0001c0001t0036g0045 a0001c0001t0037g0061 a0001c0001t0038g0001 a0001c0001t0039g0001 a0001c0001t0040g0071 a0001c0001t0042g0008 a0001c0001t0043g0051 a0001c0001t0044g0008 a0001c0004t0041g0053	165	432	0.3819	-18	c.340 others(33): Show c.340-405_340-388delCAGACTAGCTGGGGTGCC	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
BIRC6_chr2_32352023_32623878	32473706	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0011 a0001c0023t0001g0011	1	274	0.0037	-18	c.672 others(35): Show c.6720+494_6720+511delGTGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	33/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32534730	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	-18	c.122 others(39): Show c.12291+3191_12291+3208delAAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32553197	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp2 HG02486.hp1 others(2): Show HG00735.hp1 HG01891.hp2 HG02486.hp1 NA19240.hp1 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0026 a0001c0001 a0002c0002 a0005c0026	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0026t0001	a0001c0001t0001g0189 a0002c0002t0001g0093 a0002c0002t0002g0148 others(2): Show a0001c0001t0001g0189 a0002c0002t0001g0093 a0002c0002t0002g0148 a0005c0026t0001g0187 a0005c0026t0001g0188	5	274	0.0183	-18	c.131 others(39): Show c.13144+3736_13144+3753delAAAAAAAAAAAAAAAAAA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	65/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11535306	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03831.hp2 NA18970.hp1 others(1): Show HG03704.hp1 HG03831.hp2 NA18970.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0002t0001g0126 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0002t0001g0126 a0001c0002t0001g0127	4	308	0.0130	-18	c.-1- others(33): Show c.-1-7913_-1-7896delAGAAAGAAAGAAAGAGAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLMH_chr17_30243203_30296944	30267050	ACAGCCTG others(11): Show ACAGCCTGCTCTATACAGG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01255.hp1 others(2): Show HG00735.hp2 HG01081.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0206 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210	5	298	0.0168	-18	c.114 others(34): Show c.1147-114_1147-97delCCTGTATAGAGCAGGCTG	BLMH	ENSG00000108578.15	transcript	ENST00000261714.11	protein_coding	10/11			chr17	TogoVar
BLM_chr15_90712346_90821166	90734694	CGCAGAGA others(11): Show CGCAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0019 a0001c0017t0001g0019	1	280	0.0036	-18	c.-4- others(35): Show c.-4-12694_-4-12677delGCAGAGAGAGAGAGAGAG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21			chr15	TogoVar
BLM_chr15_90712346_90821166	90737053	TGAATGTA others(11): Show TGAATGTAATCACCCTGAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02145.hp1 others(11): Show HG01496.hp1 HG02109.hp1 HG02145.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02976.hp1 HG03139.hp2 HG03195.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0010 others(3): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011 a0004c0012 a0006c0013	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0011t0001 a0004c0012t0002 a0006c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0069 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0002t0001g0268 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0011t0001g0013 a0004c0012t0002g0266 a0006c0013t0001g0269	14	280	0.0500	-18	c.-4- others(35): Show c.-4-10334_-4-10317delAATGTAATCACCCTGAAG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90789987	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0273 a0002c0005t0001g0273	1	280	0.0036	-18	c.282 others(35): Show c.2824-643_2824-626delTTTTTTTTTTTTTTTTTT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLM_chr15_90712346_90821166	90801148	CAAAAAAA others(11): Show CAAAAAAAAAAAAGTTGTA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(88): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02145.hp1 HG02155.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp1 HG02647.hp1 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA19240.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0009 a0001c0010 others(5): Show a0001c0001 a0001c0009 a0001c0010 a0001c0019 a0001c0022 a0001c0024 a0002c0005 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0009t0001 a0001c0010t0001 a0001c0019t0001 a0001c0022t0001 a0001c0024t0002 a0002c0005t0001 a0002c0005t0010 a0008c0018t0001	a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0035 others(88): Show a0001c0001t0001g0009 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0002g0014 a0001c0001t0002g0086 a0001c0001t0002g0100 a0001c0001t0002g0117 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0196 a0001c0001t0009g0143 a0001c0009t0001g0080 a0001c0009t0001g0277 a0001c0010t0001g0041 a0001c0010t0001g0042 a0001c0010t0001g0043 a0001c0019t0001g0109 a0001c0022t0001g0217 a0001c0024t0002g0210 a0002c0005t0001g0058 a0002c0005t0001g0138 a0002c0005t0010g0182 a0008c0018t0001g0245	91	280	0.3250	-18	c.335 others(37): Show c.3359-2356_3359-2339delTAAAAAAAAAAAAAGTTG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S5_chr6_8008567_8069389	8058357	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	364	0.0028	-18	c.195 others(35): Show c.195+4159_195+4176delTTTTTTTTTTTTTTTTTT	BLOC1S5	ENSG00000188428.20	transcript	ENST00000397457.7	protein_coding	2/4			chr6	TogoVar
BLTP3A_chr6_34787083_34882514	34853283	CCTCCTGC others(11): Show CCTCCTGCCTCAGCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0286 a0001c0001t0004g0286	1	312	0.0032	-18	c.103 others(37): Show c.1034-2333_1034-2316delCTCCTGCCTCAGCCTCCT	BLTP3A	ENSG00000065060.18	transcript	ENST00000192788.6	protein_coding	8/20			chr6	TogoVar
BLTP3B_chr12_100032072_100147874	100084378	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp1 HG01109.hp2 others(5): Show HG00673.hp2 HG01074.hp1 HG01109.hp2 HG01256.hp2 HG01928.hp2 HG02258.hp1 HG02559.hp1 HG02965.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0020	a0001c0004 a0003c0002 a0004c0005 others(1): Show a0001c0004 a0003c0002 a0004c0005 a0020c0016	a0001c0004t0001 a0003c0002t0001 a0004c0005t0001 others(1): Show a0001c0004t0001 a0003c0002t0001 a0004c0005t0001 a0020c0016t0001	a0001c0004t0001g0042 a0001c0004t0001g0044 a0003c0002t0001g0034 others(5): Show a0001c0004t0001g0042 a0001c0004t0001g0044 a0003c0002t0001g0034 a0004c0005t0001g0049 a0004c0005t0001g0050 a0004c0005t0001g0052 a0004c0005t0001g0053 a0020c0016t0001g0055	8	188	0.0426	-18	c.128 others(33): Show c.1288+80_1288+97delTGTGTGTGTGTGTGTGTG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	10/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100109159	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01255.hp2 others(16): Show HG00099.hp2 HG00738.hp2 HG01255.hp2 HG01361.hp1 HG02004.hp1 HG02015.hp2 HG02109.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02735.hp1 HG02922.hp1 HG03130.hp1 HG03834.hp1 HG03942.hp1 NA18987.hp2 NA19000.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0010 others(1): Show a0001c0001 a0002c0003 a0002c0010 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0002c0010t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0010t0001 a0003c0002t0001	a0001c0001t0001g0147 a0002c0003t0001g0019 a0002c0010t0001g0023 others(16): Show a0001c0001t0001g0147 a0002c0003t0001g0019 a0002c0010t0001g0023 a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0036 a0003c0002t0001g0037 a0003c0002t0001g0039 a0003c0002t0001g0043 a0003c0002t0001g0045 a0003c0002t0001g0048 a0003c0002t0001g0056 a0003c0002t0001g0093 a0003c0002t0001g0094 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097	19	188	0.1011	-18	c.45- others(31): Show c.45-629_45-612delAGAGAGAGAGAGAGAGAG	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124934	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0033 a0009c0027t0001g0033	1	188	0.0053	-18	c.45- others(35): Show c.45-16404_45-16387delTATATATATATATATAAA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100124936	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02486.hp1 HG03195.hp1 HG00423.hp2 HG02486.hp1 HG03195.hp1	a0001 a0011 a0001 a0011	a0001c0029 a0011c0011 a0001c0029 a0011c0011	a0001c0029t0001 a0011c0011t0001 a0001c0029t0001 a0011c0011t0001	a0001c0029t0001g0076 a0011c0011t0001g0004 a0011c0011t0001g0005 a0001c0029t0001g0076 a0011c0011t0001g0004 a0011c0011t0001g0005	3	188	0.0160	-18	c.45- others(35): Show c.45-16406_45-16389delTATATATATATATATATA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130964	AGAGAGAG others(11): Show AGAGAGAGAGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp2 NA18942.hp2 others(2): Show HG00544.hp1 HG02056.hp2 NA18942.hp2 NA18960.hp1 NA19078.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0028 a0001c0001 a0012c0028	a0001c0001t0001 a0012c0028t0001 a0001c0001t0001 a0012c0028t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0012c0028t0001g0087	5	188	0.0266	-18	c.44+ others(35): Show c.44+11610_44+11627delCCTCCCTCTCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100130982	GGAGAGAG others(11): Show GGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp1 HG03098.hp1 others(2): Show HG00741.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp2 NA20805.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 others(2): Show a0005c0006t0001g0178 a0005c0006t0001g0179 a0005c0006t0001g0180 a0005c0006t0001g0181 a0005c0006t0001g0182	5	188	0.0266	-18	c.44+ others(35): Show c.44+11592_44+11609delTCTCTCTCTCTCTCTCTC	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLZF1_chr1_169363195_169393305	169375393	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	366	0.0027	-18	c.29- others(33): Show c.29-1126_29-1109delATATATATATATATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13284196	GTGTATAT others(11): Show GTGTATATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	314	0.0032	-18	c.-26 others(37): Show c.-263+6275_-263+6292delGTATATATATATGTGTAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13363127	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp1 NA20300.hp2 HG03579.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027	3	314	0.0096	-18	c.460 others(35): Show c.460-2350_460-2333delATATATATATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMERB1_chr16_15429588_15593259	15517976	CGTGTGGA others(11): Show CGTGTGGATGTGTGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show HG02145.hp1 HG02572.hp2 HG02717.hp2 HG03041.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0005g0005	6	291	0.0206	-18	c.230 others(35): Show c.230+2564_230+2581delCATGTGTGGATGTGTGTG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMI1_chr10_22316099_22336484	22321452	AGGAGGAG others(11): Show AGGAGGAGGCCGAGGCGCC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0043 a0001c0001t0014g0043	1	246	0.0041	-18	c.-24 others(27): Show c.-241_-224delGAGGCCGAGGCGCCGGAG	BMI1	ENSG00000168283.14	transcript	ENST00000376663.8	protein_coding	1/10	4958	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMP2K_chr4_78771350_78921365	78873656	CTCTGTGT others(11): Show CTCTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	204	0.0049	-18	c.179 others(35): Show c.1793+860_1793+877delCTGTGTGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78873658	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0043 a0001c0001t0006g0044	2	204	0.0098	-18	c.179 others(35): Show c.1793+890_1793+907delGTGTGTGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78895857	GCTCAAGC others(11): Show GCTCAAGCAGTCCTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02886.hp1 others(5): Show HG02258.hp1 HG02647.hp2 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03516.hp1 NA18906.hp2 NA20129.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0001 a0001c0012 a0005c0004 others(1): Show a0001c0001 a0001c0012 a0005c0004 a0013c0023	a0001c0001t0006 a0001c0012t0015 a0005c0004t0006 others(1): Show a0001c0001t0006 a0001c0012t0015 a0005c0004t0006 a0013c0023t0005	a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0043 others(5): Show a0001c0001t0006g0030 a0001c0001t0006g0034 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0012t0015g0032 a0001c0012t0015g0036 a0005c0004t0006g0031 a0013c0023t0005g0035	8	204	0.0392	-18	c.206 others(37): Show c.2062+8576_2062+8593delCAAGCAGTCCTCCCACCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP6_chr6_7721099_7886728	7784403	CTGTGTGT others(11): Show CTGTGTGTAGGCGTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp2 HG03195.hp1 others(2): Show HG02965.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0019t0037	a0001c0001t0001g0149 a0001c0001t0001g0222 a0001c0001t0009g0059 others(2): Show a0001c0001t0001g0149 a0001c0001t0001g0222 a0001c0001t0009g0059 a0001c0002t0001g0148 a0001c0019t0037g0073	5	308	0.0162	-18	c.664 others(37): Show c.664+56814_664+56831delGTCTGAGTGTGTGTAGGC	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP6_chr6_7721099_7886728	7884272	AGAGTGAG others(11): Show AGAGTGAGTTATCGTGGTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0154 a0001c0011t0003g0154	1	308	0.0033	-18	c.39 others(29): Show c.3930_*3947delGAGTGAGTTATCGTGGTT	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding		2545		chr6	TogoVar
BMP7_chr20_57163753_57271641	57176750	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG01256.hp2 others(2): Show HG00099.hp2 HG01109.hp1 HG01256.hp2 HG01891.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0025 a0001c0001t0005 a0001c0001t0025	a0001c0001t0005g0065 a0001c0001t0005g0120 a0001c0001t0005g0121 others(2): Show a0001c0001t0005g0065 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0216 a0001c0001t0025g0246	5	272	0.0184	-18	c.959 others(35): Show c.959-1761_959-1744delTGTGTGTGTGTGTGTGTG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	4/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57209247	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0014 a0001c0001t0024	a0001c0001t0014g0257 a0001c0001t0024g0041 a0001c0001t0014g0257 a0001c0001t0024g0041	2	272	0.0074	-18	c.612 others(35): Show c.612-6642_612-6625delTATATATATATATATAAA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57209249	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02015.hp1 HG02145.hp2 others(11): Show HG01109.hp2 HG02015.hp1 HG02145.hp2 HG02258.hp1 HG02647.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03704.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027	a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0108 others(11): Show a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0190 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0006g0247 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0018g0201 a0001c0001t0020g0214 a0001c0001t0027g0263	14	272	0.0515	-18	c.612 others(35): Show c.612-6644_612-6627delTATATATATATATATATA	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
BMP7_chr20_57163753_57271641	57232852	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG03831.hp2 HG02145.hp1 HG03130.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0113 a0001c0001t0002g0088 a0001c0001t0003g0112 a0001c0001t0001g0113 a0001c0001t0002g0088 a0001c0001t0003g0112	3	272	0.0110	-18	c.419 others(35): Show c.419-4449_419-4432delGTGTGTGTGTGTGTGTGT	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	1/6			chr20	TogoVar
BMP8A_chr1_39486636_39534869	39488295	CTTTTTTT others(11): Show CTTTTTTTTTTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18979.hp1 NA18946.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0225 a0001c0001t0001g0041 a0001c0001t0001g0225	2	362	0.0055	-18	c.-36 others(29): Show c.-3696_-3679delTTTTTTTTTTTTTCTTTT	BMP8A	ENSG00000183682.8	transcript	ENST00000331593.6	protein_coding		3340		chr1	TogoVar
BMP8B_chr1_39752182_39793865	39770501	CCCACCTC others(11): Show CCCACCTCCACGATCTCTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00621.hp2 others(35): Show HG00597.hp2 HG00609.hp2 HG00621.hp2 HG01099.hp1 HG02027.hp1 HG02071.hp1 HG02135.hp2 HG02559.hp1 HG02922.hp2 HG02965.hp1 HG03239.hp2 HG03516.hp1 HG03831.hp1 HG06807.hp2 NA18940.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18962.hp1 NA18967.hp2 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19058.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0002 a0001c0003 a0004c0006 others(2): Show a0001c0002 a0001c0003 a0004c0006 a0004c0012 a0009c0017	a0001c0002t0002 a0001c0002t0010 a0001c0002t0017 others(4): Show a0001c0002t0002 a0001c0002t0010 a0001c0002t0017 a0001c0003t0028 a0004c0006t0005 a0004c0012t0005 a0009c0017t0038	a0001c0002t0002g0041 a0001c0002t0002g0162 a0001c0002t0010g0018 others(21): Show a0001c0002t0002g0041 a0001c0002t0002g0162 a0001c0002t0010g0018 a0001c0002t0010g0210 a0001c0002t0017g0048 a0001c0003t0028g0121 a0004c0006t0005g0008 a0004c0006t0005g0224 a0004c0006t0005g0225 a0004c0006t0005g0226 a0004c0006t0005g0227 a0004c0006t0005g0228 a0004c0006t0005g0229 a0004c0006t0005g0230 a0004c0006t0005g0231 a0004c0006t0005g0232 a0004c0006t0005g0233 a0004c0006t0005g0234 a0004c0006t0005g0237 a0004c0012t0005g0016 a0004c0012t0005g0235 a0004c0012t0005g0238 a0004c0012t0005g0239 a0009c0017t0038g0236	38	430	0.0884	-18	c.673 others(35): Show c.673+3789_673+3806delAAGAGATCGTGGAGGTGG	BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding	3/6			chr1	TogoVar
BMPER_chr7_33900539_34161427	34024376	AAAAAAAC others(11): Show AAAAAAACAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0008 a0001c0010t0012g0008	1	232	0.0043	-18	c.577 others(37): Show c.577-21928_577-21911delAAAAACAATATATATATA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34024384	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(34): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00741.hp1 HG01070.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02300.hp1 HG02523.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp1 HG03834.hp2 HG03927.hp2 NA18612.hp2 NA18906.hp2 NA18963.hp1 NA18966.hp2 NA18992.hp2 NA19058.hp1 NA19066.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0015 a0001c0016 a0002c0006 a0002c0020 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0001t0024 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0003t0001 a0001c0003t0015 a0001c0003t0017 a0001c0004t0004 a0001c0005t0001 a0001c0015t0001 a0001c0016t0001 a0002c0006t0001 a0002c0020t0001 a0006c0014t0007	a0001c0001t0001g0147 a0001c0001t0001g0183 a0001c0001t0001g0184 others(34): Show a0001c0001t0001g0147 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0002g0157 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0003g0094 a0001c0001t0003g0110 a0001c0001t0004g0092 a0001c0001t0005g0187 a0001c0001t0006g0185 a0001c0001t0022g0228 a0001c0001t0024g0068 a0001c0001t0031g0229 a0001c0001t0032g0188 a0001c0002t0001g0104 a0001c0002t0001g0214 a0001c0003t0001g0005 a0001c0003t0001g0149 a0001c0003t0001g0189 a0001c0003t0015g0123 a0001c0003t0017g0113 a0001c0004t0004g0176 a0001c0005t0001g0121 a0001c0015t0001g0086 a0001c0016t0001g0078 a0002c0006t0001g0060 a0002c0006t0001g0082 a0002c0006t0001g0140 a0002c0020t0001g0133 a0006c0014t0007g0033	37	232	0.1595	-18	c.577 others(37): Show c.577-21889_577-21872delATATATATATATATATAT	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86790186	AAAATATA others(11): Show AAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03704.hp1 HG03710.hp2 others(3): Show HG03239.hp1 HG03704.hp1 HG03710.hp2 HG04115.hp1 NA18965.hp1 NA18966.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0009 a0002c0001t0015 others(2): Show a0002c0001t0008 a0002c0001t0009 a0002c0001t0015 a0002c0001t0018 a0002c0001t0038	a0002c0001t0008g0043 a0002c0001t0009g0041 a0002c0001t0009g0042 others(3): Show a0002c0001t0008g0043 a0002c0001t0009g0041 a0002c0001t0009g0042 a0002c0001t0015g0123 a0002c0001t0018g0101 a0002c0001t0038g0040	6	278	0.0216	-18	c.-26 others(39): Show c.-268+33269_-268+33286delAATATATATATATATATA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790188	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp1 HG01081.hp2 others(22): Show HG00621.hp1 HG01074.hp1 HG01081.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02155.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG04184.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA19001.hp2 NA19068.hp2 NA19074.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 others(10): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0016 a0001c0002t0017 a0001c0002t0027 a0001c0002t0030 a0001c0002t0045 a0001c0002t0046 a0001c0002t0049 a0001c0003t0020 a0002c0001t0002 a0002c0001t0018 a0002c0001t0042	a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0075 others(22): Show a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0004g0049 a0001c0002t0004g0067 a0001c0002t0004g0141 a0001c0002t0004g0142 a0001c0002t0016g0098 a0001c0002t0016g0108 a0001c0002t0017g0039 a0001c0002t0017g0117 a0001c0002t0027g0014 a0001c0002t0030g0139 a0001c0002t0045g0111 a0001c0002t0046g0062 a0001c0002t0049g0085 a0001c0003t0020g0158 a0002c0001t0002g0174 a0002c0001t0002g0217 a0002c0001t0002g0250 a0002c0001t0018g0116 a0002c0001t0018g0122 a0002c0001t0042g0059	25	278	0.0899	-18	c.-26 others(39): Show c.-268+33300_-268+33317delATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86835549	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0019 a0001c0003t0033g0019	1	278	0.0036	-18	c.-26 others(37): Show c.-267-3294_-267-3277delAAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01952.hp1 HG00280.hp1 HG01109.hp2 HG01952.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0074 a0002c0001t0002 a0002c0001t0074	a0002c0001t0002g0176 a0002c0001t0002g0196 a0002c0001t0074g0219 a0002c0001t0002g0176 a0002c0001t0002g0196 a0002c0001t0074g0219	3	278	0.0108	-18	c.531 others(35): Show c.531-5495_531-5478delAAAAAAAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94869095	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01981.hp1 HG03688.hp1 HG00738.hp2 HG01981.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0049 a0001c0001t0002 a0001c0001t0003 a0001c0001t0049	a0001c0001t0002g0187 a0001c0001t0003g0098 a0001c0001t0049g0085 a0001c0001t0002g0187 a0001c0001t0003g0098 a0001c0001t0049g0085	3	226	0.0133	-18	c.-18 others(37): Show c.-182-6705_-182-6688delACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902247	CACAGAGA others(11): Show CACAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0196 a0001c0001t0052g0196	1	226	0.0044	-18	c.-11 others(39): Show c.-113+26349_-113+26366delCAGAGAGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902249	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01361.hp1 others(2): Show HG00639.hp2 HG00642.hp2 HG01361.hp1 HG03017.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0053 a0001c0001t0002 a0001c0001t0003 a0001c0001t0053	a0001c0001t0002g0037 a0001c0001t0003g0033 a0001c0001t0003g0034 others(2): Show a0001c0001t0002g0037 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0064 a0001c0001t0053g0137	5	226	0.0221	-18	c.-11 others(39): Show c.-113+26377_-113+26394delGAGAGAGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94947789	TTCCTGAA others(11): Show TTCCTGAAAGGAATGTCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	226	0.0044	-18	c.-11 others(39): Show c.-112-48239_-112-48222delATGTCTCTCCTGAAAGGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar

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