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
BICD1_chr12_32101847_32388633	32346558	A A	ATATATAT others(19): Show ATATATATATATATATATATACGTGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	290	0.0035	26	c.276 others(45): Show c.2764+7599_2764+7600insCGTGTGTATATATATATATATATATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICD1_chr12_32101847_32388633	32384717	C C	CTTCTTCC others(19): Show CTTCTTCCTTCTTCCCTTCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0286 a0001c0003t0052g0286	1	290	0.0035	26	c.70 others(37): Show c.7090_*7091insTTCTTCCTTCTTCCCTTCTTCCTTCT	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding		1085		chr12	TogoVar
BICD2_chr9_92706363_92769833	92757312	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	360	0.0028	26	c.240 others(43): Show c.240+7167_240+7192dupTTTTTTTTTTTTTTTTTTTTTTTTTT	BICD2	ENSG00000185963.14	transcript	ENST00000356884.11	protein_coding	1/6			chr9	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19080.hp1 NA18952.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0228 a0001c0001t0002g0052 a0001c0001t0001g0228 a0001c0001t0002g0052	2	270	0.0074	26	c.-6+ others(41): Show c.-6+4099_-6+4100insGTATATATATATATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47685785	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTCTGCGCCGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	312	0.0032	26	c.228 others(45): Show c.2283+3635_2283+3636insTGTGTGTGTCTGCGCCGCGCGCGCTG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0288 a0001c0008t0006g0288	1	312	0.0032	26	c.228 others(45): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGTGTGTGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(19): Show AACACACACACACACAAACACACACAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	400	0.0025	26	c.81+ others(41): Show c.81+3087_81+3088insGTGTGTGTGTTTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG02056.hp2 others(8): Show HG00733.hp2 HG01346.hp2 HG02056.hp2 HG02074.hp2 HG02818.hp2 HG02897.hp1 NA18951.hp2 NA18978.hp2 NA18989.hp2 NA18995.hp2 NA19012.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0007 others(3): Show a0001c0001 a0001c0004 a0002c0007 a0003c0003 a0004c0005 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0002c0007t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0002c0007t0001 a0003c0003t0001 a0004c0005t0001 a0004c0006t0001	a0001c0001t0001g0277 a0001c0001t0001g0298 a0001c0001t0001g0300 others(8): Show a0001c0001t0001g0277 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0004t0001g0299 a0002c0007t0001g0031 a0002c0007t0001g0062 a0003c0003t0001g0302 a0003c0003t0001g0303 a0004c0005t0001g0029 a0004c0006t0001g0030	11	400	0.0275	26	c.81+ others(41): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22673805	G G	GGTCTGGA others(19): Show GGTCTGGATGGTCTGTTCCTCCAGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	386	0.0026	26	c.-47 others(37): Show c.-4755_-4754insTACCTGGAGGAACAGACCATCCAGAC	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding		4685		chr8	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02129.hp2 NA18968.hp1 others(2): Show HG00673.hp1 HG02129.hp2 NA18968.hp1 NA18994.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0237 a0001c0001t0001g0004 a0001c0001t0001g0237	5	344	0.0145	26	c.112 others(43): Show c.1123+459_1123+460insTATATATATATATATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0139 a0001c0003t0003g0139	1	274	0.0037	26	c.475 others(45): Show c.4754-2921_4754-2920insATATATATATATATATATTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01496.hp1 others(9): Show HG01081.hp2 HG01106.hp2 HG01496.hp1 HG02559.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp2 HG03704.hp2 HG06807.hp2 NA18954.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0001c0015 a0001c0025	a0001c0001t0001 a0001c0003t0003 a0001c0007t0006 others(4): Show a0001c0001t0001 a0001c0003t0003 a0001c0007t0006 a0001c0011t0001 a0001c0012t0003 a0001c0015t0001 a0001c0025t0002	a0001c0001t0001g0206 a0001c0001t0001g0236 a0001c0001t0001g0239 others(9): Show a0001c0001t0001g0206 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0003t0003g0058 a0001c0007t0006g0185 a0001c0011t0001g0208 a0001c0011t0001g0226 a0001c0012t0003g0115 a0001c0012t0003g0116 a0001c0015t0001g0105 a0001c0025t0002g0177	12	274	0.0438	26	c.133 others(47): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA TA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578989	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	26	c.133 others(47): Show c.13355+3624_13355+3625insTATATATATATATATATATATATA CA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	280	0.0036	26	c.-4- others(43): Show c.-4-12142_-4-12117dupATATATATATATATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLTP1_chr4_122147331_122367752	122321979	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	336	0.0030	26	c.109 others(47): Show c.10996-2437_10996-2412dupTTTTTTTTTTTTTTTTTTTTTTTT TT	BLTP1	ENSG00000138688.17	transcript	ENST00000679879.1	protein_coding	64/87		INFO_REALIGN_3_PRIME	chr4	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0043 a0003c0002t0001g0043	1	188	0.0053	26	c.44+ others(41): Show c.44+1862_44+1863insATATATATATATATATATTTTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03239.hp1 HG01433.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0169 a0001c0002t0001g0170	2	362	0.0055	26	c.80- others(41): Show c.80-1701_80-1700insATATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460247	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 NA18522.hp2 HG02451.hp2 HG02809.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0003t0001g0124 a0001c0001t0001g0068 a0001c0001t0001g0125 a0001c0003t0001g0124	3	362	0.0083	26	c.80- others(41): Show c.80-1728_80-1703dupATATATATATATATATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BMAL2_chr12_27327836_27430286	27360803	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0102	1	310	0.0032	26	c.32- others(41): Show c.32-7437_32-7436insAAAAAAAAAAAAAAAAAAAAAAAAAA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	291	0.0034	26	c.106 others(43): Show c.106+9378_106+9379insGTTTTTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01928.hp1 HG01934.hp1 others(2): Show HG00642.hp1 HG01928.hp1 HG01934.hp1 HG02155.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0132 a0001c0001t0002g0087 a0001c0001t0002g0088 others(2): Show a0001c0001t0001g0132 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0003g0237 a0001c0001t0014g0206	5	291	0.0172	26	c.106 others(43): Show c.106+9366_106+9391dupTTTTTTTTTTTTTTTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01257.hp1 HG01258.hp1 others(5): Show HG00673.hp1 HG01257.hp1 HG01258.hp1 HG02135.hp1 NA18998.hp1 NA19006.hp1 NA19070.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0022 a0001c0001t0047	a0001c0001t0001g0350 a0001c0001t0003g0076 a0001c0001t0004g0266 others(4): Show a0001c0001t0001g0350 a0001c0001t0003g0076 a0001c0001t0004g0266 a0001c0001t0004g0302 a0001c0001t0012g0004 a0001c0001t0022g0265 a0001c0001t0047g0077	8	414	0.0193	26	c.-5- others(39): Show c.-5-452_-5-427dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18747.hp2 HG00438.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0025 a0001c0001t0001g0026	2	418	0.0048	26	c.148 others(41): Show c.148+348_148+373dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22173050	A A	AGGGAGCT others(19): Show AGGGAGCTATGAAGAAATAAAACAGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	418	0.0024	26	c.149 others(41): Show c.149-552_149-551insGGGAGCTATGAAGAAATAAAACAGGG	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15			chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18747.hp2 HG00438.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	408	0.0049	26	c.148 others(41): Show c.148+348_148+373dupGTGTGTGTGTGTGTGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22173050	A A	AGGGAGCT others(19): Show AGGGAGCTATGAAGAAATAAAACAGGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0059 a0002c0009t0001g0059	1	408	0.0025	26	c.149 others(41): Show c.149-552_149-551insGGGAGCTATGAAGAAATAAAACAGGG	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19			chr8	TogoVar
BMP6_chr6_7721099_7886728	7813108	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0261 a0002c0003t0021g0261	1	308	0.0033	26	c.665 others(45): Show c.665-32031_665-32030insAAAAAAAAAAAATATATATATATATA	BMP6	ENSG00000153162.9	transcript	ENST00000283147.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
BMP7_chr20_57163753_57271641	57198056	C C	CCTCTCCT others(19): Show CCTCTCCTCTCCCCTCCTCTCCTCTCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01516.hp2 HG01517.hp2 HG01109.hp1 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0005g0065 a0001c0001t0001g0005 a0001c0001t0005g0065	3	272	0.0110	26	c.760 others(43): Show c.760+4393_760+4418dupCGAGAGGAGAGGAGGGGAGAGGAGAG	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	3/6			chr20	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0024 a0001c0002t0006g0024	1	232	0.0043	26	c.174 others(47): Show c.1746-24193_1746-24192insACACACACACACACACACACACAC AC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34119014	T T	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp2 HG01934.hp1 HG01192.hp2 HG01261.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0032 a0001c0001t0001 a0001c0001t0005 a0001c0001t0032	a0001c0001t0001g0183 a0001c0001t0005g0187 a0001c0001t0032g0188 a0001c0001t0001g0183 a0001c0001t0005g0187 a0001c0001t0032g0188	3	232	0.0129	26	c.174 others(47): Show c.1746-24215_1746-24214insTCACACACACACACACACACACAC AC	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129594	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	232	0.0043	26	c.174 others(47): Show c.1746-13621_1746-13620insGAGAGAGAGAAAGAGAGAGAGAGA GA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAAAGAGA others(19): Show GAAAGAGAGAGAGAGAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0008 a0001c0010t0012g0008	1	232	0.0043	26	c.174 others(47): Show c.1746-13607_1746-13606insAAGAGAGAGAGAGAGAAAGAGAGA AA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129622	G G	GAGAGAGA others(19): Show GAGAGAGAGAAAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	232	0.0043	26	c.174 others(47): Show c.1746-13605_1746-13604insGAGAGAAAGAGAGAAAGAAAGAAA GA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPER_chr7_33900539_34161427	34129680	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0017 a0001c0004t0004g0017	1	232	0.0043	26	c.174 others(47): Show c.1746-13547_1746-13546insGAAAGAAAGAAAGAAAGAAAGAAA AA	BMPER	ENSG00000164619.10	transcript	ENST00000649409.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
BMPR1A_chr10_86751619_86932969	86751796	T T	TGTGTGCA others(19): Show TGTGTGCACACATACGCATATGCGCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0159 a0002c0001t0012g0159	1	278	0.0036	26	c.-53 others(37): Show c.-5391_-5390insGTGTGCACACATACGCATATGCGCAC	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		4822		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86790222	T T	TATATATA others(19): Show TATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0146 a0002c0001t0068g0146	1	278	0.0036	26	c.-26 others(47): Show c.-268+33317_-268+33318insATATATATAAAAATATATATATAT AT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86824105	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0038 a0001c0002t0040g0038	1	278	0.0036	26	c.-26 others(47): Show c.-267-14753_-267-14752insGTGTGTGTGTGTGTGTGTTTGTGT GT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACACA others(19): Show CACACACACACACACACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0057 a0001c0003t0057	a0001c0003t0057g0003 a0001c0003t0057g0003	1	278	0.0036	26	c.75 others(37): Show c.7579_*7580insACACACACACACACACATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(19): Show CACACATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03486.hp2 NA18988.hp2 others(1): Show HG02723.hp1 HG03486.hp2 NA18988.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0047 a0001c0002t0080 others(1): Show a0001c0002t0021 a0001c0002t0047 a0001c0002t0080 a0001c0002t0082	a0001c0002t0021g0074 a0001c0002t0047g0106 a0001c0002t0080g0172 others(1): Show a0001c0002t0021g0074 a0001c0002t0047g0106 a0001c0002t0080g0172 a0001c0002t0082g0197	4	278	0.0144	26	c.75 others(37): Show c.7579_*7580insACACATATATATATATATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94970302	T T	TTCTCTTC others(19): Show TTCTCTTCTCTTCTTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03017.hp1 HG04204.hp2 others(3): Show HG01069.hp1 HG03017.hp1 HG04204.hp2 NA18943.hp2 NA18988.hp1 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0030 a0001c0001t0032	a0001c0001t0003g0195 a0001c0001t0005g0096 a0001c0001t0006g0225 others(3): Show a0001c0001t0003g0195 a0001c0001t0005g0096 a0001c0001t0006g0225 a0001c0001t0018g0055 a0001c0001t0030g0141 a0001c0001t0032g0175	6	226	0.0266	26	c.-11 others(47): Show c.-112-25735_-112-25734insCTTCTCTTCTTTCTCTCTCTCTCT CT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94981003	A A	ACGCGCGC others(19): Show ACGCGCGCGTACGCGCGCGTACGCGCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0021 a0001c0001t0036g0021	1	226	0.0044	26	c.-11 others(47): Show c.-112-15036_-112-15035insGCGCGCGTACGCGCGCGTACGCGC GC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026130	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0196 a0001c0001t0052g0196	1	226	0.0044	26	c.-18 others(45): Show c.-18+29998_-18+30023dupTTCTTTCTTTCTTTCTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026165	T T	TCTTTCTT others(19): Show TCTTTCTTTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	226	0.0044	26	c.-18 others(45): Show c.-18+30031_-18+30032insCTTTCTTTCTTTCTTTCTTTCTTCTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12			chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCAC others(19): Show GCGCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0106 a0001c0001t0011g0106	1	226	0.0044	26	c.349 others(41): Show c.349+635_349+636insGCGCACACACACACACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR2_chr2_202371327_202572749	202384569	T T	TTTCTTTC others(19): Show TTTCTTTCTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	224	0.0045	26	c.76+ others(41): Show c.76+7021_76+7022insCTTTCTTTCTTTCTTTCTTCTTTCTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	224	0.0045	26	c.77- others(43): Show c.77-29900_77-29899insAAAATATATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202434908	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	224	0.0045	26	c.77- others(43): Show c.77-29898_77-29873dupATATATATATATATATATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0137 a0001c0001t0039g0137	1	224	0.0045	26	c.77- others(43): Show c.77-29430_77-29429insCATATATATATATATATATATATATA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0136 a0001c0001t0038g0136	1	224	0.0045	26	c.77- others(43): Show c.77-29426_77-29401dupATATATATATATATATATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202572271	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0014 a0001c0001t0015g0014	1	224	0.0045	26	c.12 others(39): Show c.12325_*12326insTTTTTTTTTTTTTTTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		4523		chr2	TogoVar

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