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
BICDL1_chr12_119984236_120099494	120000542	T T	TGTTTCTT others(13): Show TGTTTCTTACGGAGACTTATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	296	0.0034	20	c.645 others(37): Show c.645+1808_645+1827dupTTTCTTACGGAGACTTATAG	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120013439	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	296	0.0034	20	c.645 others(39): Show c.645+14728_645+14747dupGTGTGTGTGTGTGTGTGTGT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120033367	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02647.hp2 HG01243.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0282	3	296	0.0101	20	c.646 others(39): Show c.646-28341_646-28322dupTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL1_chr12_119984236_120099494	120057818	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	296	0.0034	20	c.646 others(37): Show c.646-3881_646-3862dupTTTTTTTTTTTTTTTTTTTT	BICDL1	ENSG00000135127.12	transcript	ENST00000548673.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BICDL2_chr16_3022682_3041944	3034658	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	2	390	0.0051	20	c.282 others(35): Show c.282+537_282+556dupAGGAAGGAAGGAAGGAAGGA	BICDL2	ENSG00000162069.16	transcript	ENST00000572449.6	protein_coding	2/9			chr16	TogoVar
BICRAL_chr6_42777052_42873556	42814499	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18962.hp1 HG02074.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0226 a0001c0001t0001g0042 a0001c0001t0001g0226	2	270	0.0074	20	c.-6+ others(35): Show c.-6+4099_-6+4100insGTGTGTATATATATATATAT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42846391	T T	TTAAATAA others(13): Show TTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0037 a0001c0001t0007g0037	1	270	0.0037	20	c.184 others(39): Show c.1840-5692_1840-5673dupTAAATAAATAAATAAATAAA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRAL_chr6_42777052_42873556	42857614	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0129 a0001c0001t0008g0129	1	270	0.0037	20	c.225 others(37): Show c.2254+379_2254+380insAAAAAAAAAAAATATATATA	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BICRA_chr19_47604134_47708277	47672577	G G	GTGGATGG others(13): Show GTGGATGGATGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02280.hp2 HG02559.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0014 a0002c0005 a0003c0014	a0002c0005t0002 a0003c0014t0004 a0002c0005t0002 a0003c0014t0004	a0002c0005t0002g0300 a0003c0014t0004g0305 a0002c0005t0002g0300 a0003c0014t0004g0305	2	312	0.0064	20	c.-5- others(33): Show c.-5-988_-5-969dupTGGATGGATGGATGGATGGA	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BICRA_chr19_47604134_47708277	47685786	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0004 a0002c0039t0004	a0002c0039t0004g0209 a0002c0039t0004g0209	1	312	0.0032	20	c.228 others(39): Show c.2283+3635_2283+3636insTGTGTGTGTGTGTGTGCGCG	BICRA	ENSG00000063169.12	transcript	ENST00000594866.3	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
BID_chr22_17729138_17779469	17756531	C C	CTTCTTTC others(13): Show CTTCTTTCCTTCCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(11): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG02615.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(11): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0247 a0001c0001t0001g0270 a0001c0001t0001g0298	14	362	0.0387	20	c.-58 others(37): Show c.-58-6358_-58-6357insAGAAGAAAGGAAGGAAAGAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN2_chr12_51276038_51329174	51313220	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 NA18612.hp2 others(16): Show HG00408.hp2 HG00609.hp1 NA18612.hp2 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18961.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18997.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp2 NA19077.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0012 a0002c0002 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0063 a0002c0002t0001g0064 others(12): Show a0002c0002t0001g0001 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0070 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0002g0007 a0002c0012t0001g0069	19	400	0.0475	20	c.162 others(35): Show c.162+602_162+603insGCCTTCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51313220	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	400	0.0025	20	c.162 others(35): Show c.162+602_162+603insGCCTGCCTTCCTTCCTTCCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	2/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51320934	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01256.hp2 others(15): Show HG01071.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp1 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 NA18947.hp2 NA18961.hp2 NA18997.hp1 NA19030.hp2 NA19090.hp1 NA20805.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0004c0005 others(2): Show a0001c0001 a0001c0004 a0004c0005 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0004c0006t0001 a0005c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0241 a0001c0001t0001g0242 others(13): Show a0001c0001t0001g0017 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0004t0001g0316 a0001c0004t0001g0319 a0001c0004t0001g0320 a0004c0005t0001g0041 a0004c0005t0001g0044 a0004c0006t0001g0042 a0004c0006t0001g0043 a0005c0008t0001g0013	18	400	0.0450	20	c.81+ others(35): Show c.81+3087_81+3088insGTGTGTGTGTGTGTGTGTGT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	1/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22649850	C C	CACACACA others(13): Show CACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	386	0.0026	20	c.9-5 others(33): Show c.9-5048_9-5047insATGTGTGTGTGTGTGTGTGT	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342340	G G	GTGTATTT others(13): Show GTGTATTTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	344	0.0029	20	c.-62 others(31): Show c.-6294_-6293insTGTATTTATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4873		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	344	0.0029	20	c.-62 others(31): Show c.-6290_-6289insTATATGTATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(13): Show GTATATGTATGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	344	0.0029	20	c.-62 others(31): Show c.-6290_-6289insTATATGTATGTATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102342344	G G	GTATATGT others(13): Show GTATATGTATGTATGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	344	0.0029	20	c.-62 others(31): Show c.-6290_-6289insTATATGTATGTATGTATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4869		chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364139	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	344	0.0029	20	c.112 others(37): Show c.1123+440_1123+459dupTATATATATATATATATATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364172	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18980.hp1 NA18987.hp2 others(2): Show HG02132.hp2 NA18980.hp1 NA18987.hp2 NA19075.hp1 NA19082.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0004t0001 a0004c0006t0001 a0001c0001t0001 a0001c0004t0001 a0004c0006t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0004t0001g0049 a0004c0006t0001g0057	5	344	0.0145	20	c.112 others(37): Show c.1123+459_1123+460insTATATATATATATATACATA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATACA others(13): Show TATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	344	0.0029	20	c.112 others(37): Show c.1123+459_1123+460insTATACACACACACACACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	344	0.0029	20	c.112 others(37): Show c.1123+459_1123+460insTATATATACACACACACACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC2_chr11_102342214_102383670	102364174	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	344	0.0029	20	c.112 others(37): Show c.1123+459_1123+460insTATATATATATATATATACA	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342340	G G	GTGTATTT others(13): Show GTGTATTTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	384	0.0026	20	c.52 others(31): Show c.5238_*5239insTGTATTTATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2938		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(13): Show GTATATGTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	384	0.0026	20	c.52 others(31): Show c.5242_*5243insTATATGTATATATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(13): Show GTATATGTATGTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0007 a0002c0003t0003g0007	1	384	0.0026	20	c.52 others(31): Show c.5242_*5243insTATATGTATGTATATATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342344	G G	GTATATGT others(13): Show GTATATGTATGTATGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0062 a0002c0003t0003g0062	1	384	0.0026	20	c.52 others(31): Show c.5242_*5243insTATATGTATGTATGTATATA	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2942		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32431181	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0133 a0001c0003t0003g0133	1	274	0.0037	20	c.324 others(37): Show c.3248+104_3248+123dupTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	12/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32444031	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02630.hp2 others(3): Show HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0004 a0001c0030t0004 a0001c0007t0004 a0001c0030t0004	a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(3): Show a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0030t0004g0016	6	274	0.0219	20	c.433 others(37): Show c.4336+461_4336+462insTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	20/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460245	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0027 a0001c0009t0001g0028 a0001c0009t0001g0027 a0001c0009t0001g0028	2	274	0.0073	20	c.475 others(39): Show c.4754-2940_4754-2921dupATATATATATATATATATAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460272	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0163 a0002c0002t0003g0163	1	274	0.0037	20	c.475 others(39): Show c.4754-2921_4754-2920insATATATATATATATTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32460998	C C	CTCTCTTC others(13): Show CTCTCTTCTCTTCTCTTCTCT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0002 a0001c0006t0003g0002	1	274	0.0037	20	c.475 others(39): Show c.4754-2147_4754-2128dupCTTCTCTTCTCTTCTCTTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(13): Show TTCTCTTCTCTTCTGTTCTCC	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18963.hp2 NA18955.hp2 NA18963.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0170 a0002c0004t0002g0171 a0002c0004t0002g0170 a0002c0004t0002g0171	2	274	0.0073	20	c.475 others(39): Show c.4754-2122_4754-2121insTTCTCTTCTGTTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTCTTC others(13): Show TTCTCTTCTGTTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0167 a0002c0004t0002g0167	1	274	0.0037	20	c.475 others(39): Show c.4754-2122_4754-2121insTTCTGTTCTCCTCTCCTCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461068	T T	TTCTGTTC others(13): Show TTCTGTTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18966.hp1 NA19000.hp2 others(1): Show HG01978.hp1 NA18966.hp1 NA19000.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 a0002c0002 a0002c0004 a0002c0016	a0002c0002t0002 a0002c0004t0002 a0002c0016t0002 a0002c0002t0002 a0002c0004t0002 a0002c0016t0002	a0002c0002t0002g0094 a0002c0004t0002g0172 a0002c0016t0002g0082 others(1): Show a0002c0002t0002g0094 a0002c0004t0002g0172 a0002c0016t0002g0082 a0002c0016t0002g0096	4	274	0.0146	20	c.475 others(39): Show c.4754-2123_4754-2122insGTTCTCCTCTCCTCTCCTCT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32461126	T T	TCCTCTCC others(13): Show TCCTCTCCTCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0037 a0001c0003t0003g0037	1	274	0.0037	20	c.475 others(39): Show c.4754-2064_4754-2063insTCCTCTCCTCCCCTCCCCTC	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	23/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32480621	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0045	1	274	0.0037	20	c.740 others(37): Show c.7409-681_7409-662dupTTTTTTTTTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	37/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32532134	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01952.hp2 HG01993.hp1 others(7): Show HG01168.hp2 HG01952.hp2 HG01993.hp1 HG02109.hp1 HG02257.hp1 HG03098.hp2 HG04199.hp1 NA18951.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0009 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0194 a0001c0001t0001g0224 a0001c0001t0001g0245 others(7): Show a0001c0001t0001g0194 a0001c0001t0001g0224 a0001c0001t0001g0245 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0035 a0001c0003t0003g0133 a0001c0003t0009g0031 a0002c0002t0002g0030 a0002c0002t0003g0162	10	274	0.0365	20	c.122 others(39): Show c.12291+601_12291+620dupTGTGTGTGTGTGTGTGTGTG	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	61/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32578979	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01433.hp1 others(4): Show HG01109.hp1 HG01261.hp1 HG01433.hp1 HG02622.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0008 a0001c0013 others(2): Show a0001c0001 a0001c0008 a0001c0013 a0001c0023 a0013c0045	a0001c0001t0001 a0001c0008t0003 a0001c0013t0003 others(2): Show a0001c0001t0001 a0001c0008t0003 a0001c0013t0003 a0001c0023t0001 a0013c0045t0008	a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0008t0003g0059 others(4): Show a0001c0001t0001g0204 a0001c0001t0001g0233 a0001c0008t0003g0059 a0001c0008t0003g0060 a0001c0013t0003g0036 a0001c0023t0001g0011 a0013c0045t0008g0151	7	274	0.0256	20	c.133 others(41): Show c.13355+3624_13355+3625insTATATATATATATATATATA	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	66/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32594713	T T	TGGATGGA others(13): Show TGGATGGATGGATGGATGGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0007 a0001c0030 a0001c0007 a0001c0030	a0001c0007t0004 a0001c0007t0007 a0001c0030t0004 a0001c0007t0004 a0001c0007t0007 a0001c0030t0004	a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 others(4): Show a0001c0007t0004g0017 a0001c0007t0004g0018 a0001c0007t0004g0019 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0007t0007g0021 a0001c0030t0004g0016	7	274	0.0256	20	c.135 others(39): Show c.13502-312_13502-293dupGGATGGATGGACGGATGGAT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	67/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32609285	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0002 a0009c0029t0002	a0009c0029t0002g0181 a0009c0029t0002g0181	1	274	0.0037	20	c.142 others(41): Show c.14259+1650_14259+1669dupGTGTGTGTGTGTGTGTGTGT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	72/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC7_chr20_63230905_63245495	63242405	G G	GTGGATGG others(13): Show GTGGATGGATGGACGGACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02280.hp2 HG02818.hp2 others(8): Show HG01167.hp1 HG02280.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1	a0003 a0004 a0003 a0004	a0003c0021 a0004c0005 a0003c0021 a0004c0005	a0003c0021t0001 a0004c0005t0001 a0003c0021t0001 a0004c0005t0001	a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 others(1): Show a0003c0021t0001g0005 a0004c0005t0001g0005 a0004c0005t0001g0009 a0004c0005t0001g0023	11	300	0.0367	20	c.21 others(31): Show c.2155_*2156insTGGATGGATGGACGGACGGA	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		1911		chr20	TogoVar
BIVM_chr13_102794119_102846533	102843363	T T	TGGTTTCT others(13): Show TGGTTTCTTCTGAGGCCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	404	0.0025	20	c.34 others(31): Show c.3498_*3499insGGTTTCTTCTGAGGCCTGTC	BIVM	ENSG00000134897.14	transcript	ENST00000257336.6	protein_coding		1831		chr13	TogoVar
BLID_chr11_122110340_122121215	122112071	C C	CAAACAAA others(13): Show CAAACAAAACAAAACAAAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG01069.hp2 others(36): Show HG00423.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp1 HG01255.hp1 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG02074.hp2 HG02080.hp2 HG02258.hp2 HG02559.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03139.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp2 NA18612.hp1 NA18906.hp1 NA18949.hp2 NA18962.hp2 NA18984.hp1 NA19060.hp1 NA19077.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	39	434	0.0899	20	c.35 others(31): Show c.3524_*3525insTGTTTTGTTTTGTTTTGTTT	BLID	ENSG00000259571.2	transcript	ENST00000560104.2	protein_coding		3268		chr11	TogoVar
BLK_chr8_11489387_11569599	11504367	G G	GAAAGAAA others(13): Show GAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0238 a0002c0007t0004g0238	1	308	0.0033	20	c.-2+ others(35): Show c.-2+9805_-2+9824dupGAAAAGAAAAGAAAAGAAAA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BLM_chr15_90712346_90821166	90735236	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG04204.hp1 HG02109.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0002 a0001c0011t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0002g0028 a0001c0011t0001g0013 a0001c0001t0002g0028 a0001c0011t0001g0013	2	280	0.0071	20	c.-4- others(37): Show c.-4-12136_-4-12117dupATATATATATATATATATAT	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BLOC1S1_chr12_55711046_55724703	55714709	T T	TACATATA others(13): Show TACATATACATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02922.hp1 HG02630.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	2	410	0.0049	20	c.-13 others(31): Show c.-1343_-1342insACATATACATACATATATAC	BLOC1S1	ENSG00000135441.8	transcript	ENST00000548925.6	protein_coding		1336		chr12	TogoVar
BLOC1S3_chr19_45173784_45186800	45180235	A A	AATTTTTT others(13): Show AATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0001 a0001c0001t0034g0001	1	426	0.0024	20	c.33 others(29): Show c.330_*331insATTTTTTTTTTTTTTTTTTT	BLOC1S3	ENSG00000189114.8	transcript	ENST00000433642.3	protein_coding	2/2	331		chr19	TogoVar
BLOC1S4_chr4_6711174_6722664	6716006	C C	CAGCGCGC others(13): Show CAGCGCGCATGCGTGAGCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02809.hp2 HG02886.hp2 others(5): Show HG01243.hp1 HG02809.hp2 HG02886.hp2 HG04204.hp1 NA18999.hp1 NA19057.hp1 NA19057.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0002g0000	8	458	0.0175	20	c.-20 others(29): Show c.-204_-203insAGCGCGCATGCGTGAGCGTG	BLOC1S4	ENSG00000186222.5	transcript	ENST00000320776.5	protein_coding		167		chr4	TogoVar

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