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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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
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp1 HG03139.hp1 others(1): Show HG02257.hp1 HG02886.hp1 HG03139.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0004g0048 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0004g0048 a0002c0002t0001g0057	4	76	0.0526	-26	c.310 others(45): Show c.310-22766_310-22741delATATATATATATATATATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33933520	CACACAGA others(19): Show CACACAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0021 a0008c0009t0002g0021	1	266	0.0038	-26	c.446 others(45): Show c.446-57551_446-57526delCTCTCTCTCTCTCTCTCTCTCTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33933522	CACAGAGA others(19): Show CACAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	266	0.0038	-26	c.446 others(45): Show c.446-57553_446-57528delCTCTCTCTCTCTCTCTCTCTCTCTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0091 a0001c0004t0091	a0001c0004t0091g0114 a0001c0004t0091g0114	1	330	0.0030	-26	c.94- others(41): Show c.94-2250_94-2225delTTTTTTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579576	ATATATTA others(19): Show ATATATTATATATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG02258.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0063 a0003c0005t0064 others(1): Show a0003c0005t0023 a0003c0005t0063 a0003c0005t0064 a0003c0005t0066	a0003c0005t0023g0317 a0003c0005t0063g0318 a0003c0005t0064g0323 others(1): Show a0003c0005t0023g0317 a0003c0005t0063g0318 a0003c0005t0064g0323 a0003c0005t0066g0326	4	330	0.0121	-26	c.168 others(43): Show c.1689-623_1689-598delTATATATTATATTATATATTATATAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVP_chr20_3077556_3089724	3082594	GGCGCGAA others(19): Show GGCGCGAAGAGCGCGCCGGTGGGGCGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	468	0.0021	-26	c.10 others(33): Show c.10_*35delTCGCCCCACCGGCGCGCTCTTCGCGC	AVP	ENSG00000101200.5	transcript	ENST00000380293.3	protein_coding	3/3	10		chr20	TogoVar
AXDND1_chr1_179360971_179559735	179541665	TAATATGC others(19): Show TAATATGCATAATAATATTGCATGATA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp2 HG01496.hp1 others(11): Show HG01106.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG02071.hp1 HG02165.hp2 HG03710.hp1 NA18943.hp2 NA18979.hp1 NA18989.hp2 NA19065.hp1 NA19079.hp1 NA20805.hp1	a0002 a0004 a0002 a0004	a0002c0019 a0004c0005 a0002c0019 a0004c0005	a0002c0019t0001 a0004c0005t0001 a0002c0019t0001 a0004c0005t0001	a0002c0019t0001g0044 a0004c0005t0001g0298 a0004c0005t0001g0299 others(11): Show a0002c0019t0001g0044 a0004c0005t0001g0298 a0004c0005t0001g0299 a0004c0005t0001g0300 a0004c0005t0001g0301 a0004c0005t0001g0302 a0004c0005t0001g0303 a0004c0005t0001g0304 a0004c0005t0001g0305 a0004c0005t0001g0306 a0004c0005t0001g0307 a0004c0005t0001g0308 a0004c0005t0001g0309 a0004c0005t0001g0310	14	356	0.0393	-26	c.303 others(45): Show c.3031+6705_3031+6730delATATGCATAATAATATTGCATGATAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235474969	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0106 a0001c0001t0040g0106	1	344	0.0029	-26	c.652 others(43): Show c.652-4035_652-4010delAAAAAAAATATATATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GALT1_chr2_167288001_167879045	167512566	ATGTATAT others(19): Show ATGTATATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	118	0.0085	-26	c.-41 others(47): Show c.-410+22303_-410+22328delGTATATATATATGTGTATATATAT AT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167512595	TATATATA others(19): Show TATATATATATATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02257.hp2 others(7): Show HG01106.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02896.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0094 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0094 a0001c0001t0011g0050 a0001c0001t0015g0079 a0001c0001t0016g0053 a0001c0001t0018g0093 a0001c0001t0025g0004 a0001c0001t0028g0056 a0001c0001t0039g0048	10	118	0.0848	-26	c.-41 others(47): Show c.-410+22319_-410+22344delATATATATATATGTATATATATAT AC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4			chr2	TogoVar
B3GALT1_chr2_167288001_167879045	167625942	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp1 HG01496.hp1 others(10): Show HG01169.hp2 HG01255.hp1 HG01496.hp1 HG02647.hp1 HG02723.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 others(10): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0045 a0001c0002t0011 a0001c0003t0044	a0001c0001t0002g0049 a0001c0001t0011g0050 a0001c0001t0021g0035 others(10): Show a0001c0001t0002g0049 a0001c0001t0011g0050 a0001c0001t0021g0035 a0001c0001t0022g0047 a0001c0001t0023g0037 a0001c0001t0026g0009 a0001c0001t0027g0006 a0001c0001t0028g0056 a0001c0001t0029g0036 a0001c0001t0030g0072 a0001c0001t0045g0045 a0001c0002t0011g0090 a0001c0003t0044g0115	13	118	0.1102	-26	c.-40 others(47): Show c.-409-20948_-409-20923delATATATATATATATATATATATAT AT	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT6_chr1_1227237_1240041	1229060	CGCCTTCT others(19): Show CGCCTTCTCCAGACCACACGTGGCACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01099.hp2 others(32): Show HG00597.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01261.hp2 HG01516.hp1 HG01891.hp2 HG01993.hp1 HG02280.hp2 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA19060.hp2 NA19067.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0013 a0005c0007	a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0009 a0002c0003t0013 a0002c0003t0024 a0002c0004t0001 a0002c0004t0008 a0002c0004t0012 a0002c0004t0019 a0002c0013t0001 a0005c0007t0001	a0001c0001t0001g0000 a0001c0002t0003g0000 a0002c0003t0001g0000 others(11): Show a0001c0001t0001g0000 a0001c0002t0003g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0003t0009g0000 a0002c0003t0013g0000 a0002c0003t0024g0000 a0002c0004t0001g0000 a0002c0004t0008g0000 a0002c0004t0012g0000 a0002c0004t0019g0000 a0002c0013t0001g0000 a0005c0007t0001g0000	35	366	0.0956	-26	c.-32 others(37): Show c.-3218_-3193delGCCTTCTCCAGACCACACGTGGCACT	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding		3176		chr1	TogoVar
B3GALT6_chr1_1227237_1240041	1237403	CCTCTGTC others(19): Show CCTCTGTCCTGGTCGCGTTGCCCAGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0000 a0002c0003t0016g0000	1	366	0.0027	-26	c.41 others(37): Show c.4136_*4161delCTCTGTCCTGGTCGCGTTGCCCAGCG	B3GALT6	ENSG00000176022.7	transcript	ENST00000379198.5	protein_coding		2363		chr1	TogoVar
B3GAT1_chr11_134373508_134417242	134403979	TTCTTTAT others(19): Show TTCTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG01243.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0227 a0002c0002t0001g0228	2	352	0.0057	-26	c.-28 others(45): Show c.-282+7802_-282+7827delTATATATATATATATATATATAAAGA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31265832	TGGAAGTG others(19): Show TGGAAGTGGGACTGAAAAAGTTAGCTA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	268	0.0037	-26	c.597 others(43): Show c.597-3361_597-3336delTAGCTAGGAAGTGGGACTGAAAAAGT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNT3_chr19_17790138_17818576	17818382	TAGGTGGG others(19): Show TAGGTGGGTGCGTTGCTTGAGCCCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	406	0.0025	-26	c.62 others(37): Show c.6261_*6286delAGGTGGGTGCGTTGCTTGAGCCCAGG	B3GNT3	ENSG00000179913.11	transcript	ENST00000318683.7	protein_coding		4807		chr19	TogoVar
B3GNT6_chr11_77029398_77046973	77032660	TATATATA others(19): Show TATATATATATATATATATACACATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02723.hp1 others(2): Show HG02486.hp1 HG02572.hp2 HG02723.hp1 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0003 a0001c0002t0020 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0020 a0002c0003t0004	a0001c0001t0002g0009 a0001c0002t0003g0077 a0001c0002t0020g0040 others(1): Show a0001c0001t0002g0009 a0001c0002t0003g0077 a0001c0002t0020g0040 a0002c0003t0004g0020	5	442	0.0113	-26	c.-18 others(37): Show c.-1818_-1793delATATATATATATATATATACACATAC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1737		chr11	TogoVar
BAD_chr11_64264830_64289665	64271294	TCTCACAC others(19): Show TCTCACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(59): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG02040.hp2 HG02074.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02698.hp2 HG02735.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18965.hp2 NA18971.hp1 NA18988.hp2 NA18991.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp2 NA19091.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 others(54): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0112 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0341 a0001c0001t0001g0346	62	388	0.1598	-26	c.378 others(41): Show c.378+293_378+318delTGTGTGTGTGTGTGTGTGTGTGTGAG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BAHCC1_chr17_81390457_81471331	81452133	TGGGAGGG others(19): Show TGGGAGGGTCGCAGCACCCCCACCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(96): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18980.hp2 NA18984.hp1 NA18990.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0017 a0018 a0023 a0024 a0025 a0026 a0027 a0045 a0047 a0048 a0052 a0053 a0055	a0001c0007 a0001c0085 a0003c0002 others(20): Show a0001c0007 a0001c0085 a0003c0002 a0003c0018 a0003c0064 a0004c0004 a0004c0011 a0004c0035 a0004c0037 a0017c0023 a0018c0039 a0018c0106 a0023c0084 a0024c0082 a0025c0107 a0026c0083 a0027c0088 a0045c0080 a0047c0046 a0048c0045 a0052c0038 a0053c0040 a0055c0034	a0001c0007t0015 a0001c0007t0016 a0001c0007t0033 others(33): Show a0001c0007t0015 a0001c0007t0016 a0001c0007t0033 a0001c0085t0001 a0003c0002t0001 a0003c0002t0004 a0003c0002t0013 a0003c0002t0028 a0003c0002t0035 a0003c0018t0001 a0003c0018t0002 a0003c0064t0005 a0004c0004t0002 a0004c0004t0014 a0004c0004t0022 a0004c0004t0029 a0004c0011t0002 a0004c0011t0004 a0004c0011t0023 a0004c0035t0002 a0004c0037t0014 a0017c0023t0015 a0017c0023t0038 a0018c0039t0011 a0018c0106t0010 a0023c0084t0003 a0024c0082t0001 a0025c0107t0002 a0026c0083t0001 a0027c0088t0004 a0045c0080t0004 a0047c0046t0004 a0048c0045t0001 a0052c0038t0002 a0053c0040t0002 a0055c0034t0002	a0001c0007t0015g0275 a0001c0007t0016g0234 a0001c0007t0033g0135 others(94): Show a0001c0007t0015g0275 a0001c0007t0016g0234 a0001c0007t0033g0135 a0001c0085t0001g0073 a0003c0002t0001g0002 a0003c0002t0001g0039 a0003c0002t0001g0049 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0062 a0003c0002t0001g0075 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0097 a0003c0002t0001g0098 a0003c0002t0001g0100 a0003c0002t0001g0101 a0003c0002t0001g0103 a0003c0002t0001g0104 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0001g0107 a0003c0002t0001g0111 a0003c0002t0001g0124 a0003c0002t0001g0183 a0003c0002t0001g0209 a0003c0002t0001g0213 a0003c0002t0004g0115 a0003c0002t0004g0122 a0003c0002t0004g0123 a0003c0002t0004g0170 a0003c0002t0004g0171 a0003c0002t0004g0172 a0003c0002t0004g0182 a0003c0002t0004g0194 a0003c0002t0004g0205 a0003c0002t0004g0229 a0003c0002t0004g0280 a0003c0002t0004g0295 a0003c0002t0004g0310 a0003c0002t0013g0024 a0003c0002t0013g0168 a0003c0002t0013g0173 a0003c0002t0028g0299 a0003c0002t0035g0197 a0003c0018t0001g0307 a0003c0018t0002g0143 a0003c0018t0002g0210 a0003c0064t0005g0198 a0004c0004t0002g0003 a0004c0004t0002g0010 a0004c0004t0002g0061 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0127 a0004c0004t0002g0138 a0004c0004t0002g0149 a0004c0004t0002g0156 a0004c0004t0002g0158 a0004c0004t0002g0167 a0004c0004t0002g0214 a0004c0004t0002g0217 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0221 a0004c0004t0002g0222 a0004c0004t0002g0240 a0004c0004t0002g0241 a0004c0004t0002g0266 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0004t0022g0139 a0004c0004t0029g0220 a0004c0011t0002g0023 a0004c0011t0002g0120 a0004c0011t0002g0162 a0004c0011t0004g0071 a0004c0011t0023g0041 a0004c0035t0002g0215 a0004c0037t0014g0256 a0017c0023t0015g0277 a0017c0023t0038g0027 a0018c0039t0011g0270 a0018c0106t0010g0328 a0023c0084t0003g0129 a0024c0082t0001g0236 a0025c0107t0002g0250 a0026c0083t0001g0099 a0027c0088t0004g0165 a0045c0080t0004g0128 a0047c0046t0004g0273 a0048c0045t0001g0254 a0052c0038t0002g0144 a0053c0040t0002g0268 a0055c0034t0002g0216	99	332	0.2982	-26	c.431 others(41): Show c.4316+33_4316+58delGTCGCAGCACCCCCACCCCCGGGAGG	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81093077	CCCTGGGC others(19): Show CCCTGGGCTGGGCTGGGCTGGGCTGGG	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	376	0.0027	-26	c.489 others(43): Show c.489+6499_489+6524delCTGGGCTGGGCTGGGCTGGGCTGGGC	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAK1_chr6_33567552_33585276	33570098	TGCACGCA others(19): Show TGCACGCACACATACACACGCATGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(14): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp2 HG04199.hp1 NA19005.hp2 NA19030.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0003t0001g0009 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0003t0001g0009 a0001c0003t0001g0017 a0001c0003t0001g0066	17	434	0.0392	-26	c.36 others(37): Show c.3679_*3704delGTGCATGCGTGTGTATGTGTGCGTGC	BAK1	ENSG00000030110.14	transcript	ENST00000374467.4	protein_coding		2453		chr6	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	284	0.0035	-26	c.469 others(43): Show c.469+9755_469+9780delTTTTTTTTTTTTTTTTTTTTTTTTTT	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88035636	GGTAGATG others(19): Show GGTAGATGTTTCTACTGCTGGCTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02040.hp1 HG02056.hp1 others(3): Show HG00621.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02135.hp2 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 others(3): Show a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0080	6	352	0.0171	-26	c.127 others(43): Show c.1272+245_1272+270delAGATGTTTCTACTGCTGGCTGGAAGT	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANP_chr16_87946434_88082316	88059059	TGGTCCGT others(19): Show TGGTCCGTGCTCCTGCTGGTGTGCTGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01167.hp2 others(27): Show HG00639.hp2 HG01109.hp1 HG01167.hp2 HG01891.hp1 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp2 NA19030.hp2 NA20905.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0009 others(7): Show a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0012 a0001c0020 a0001c0023 a0001c0027 a0001c0030 a0001c0032	a0001c0005t0005 a0001c0007t0005 a0001c0009t0005 others(7): Show a0001c0005t0005 a0001c0007t0005 a0001c0009t0005 a0001c0010t0007 a0001c0012t0001 a0001c0020t0007 a0001c0023t0005 a0001c0027t0007 a0001c0030t0001 a0001c0032t0005	a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0007t0005g0088 others(27): Show a0001c0005t0005g0063 a0001c0005t0005g0064 a0001c0007t0005g0088 a0001c0007t0005g0089 a0001c0007t0005g0119 a0001c0007t0005g0282 a0001c0009t0005g0096 a0001c0009t0005g0099 a0001c0009t0005g0100 a0001c0009t0005g0101 a0001c0009t0005g0102 a0001c0009t0005g0103 a0001c0009t0005g0104 a0001c0009t0005g0105 a0001c0010t0007g0122 a0001c0010t0007g0123 a0001c0010t0007g0127 a0001c0010t0007g0149 a0001c0010t0007g0151 a0001c0010t0007g0156 a0001c0010t0007g0158 a0001c0010t0007g0159 a0001c0012t0001g0160 a0001c0012t0001g0161 a0001c0020t0007g0141 a0001c0020t0007g0147 a0001c0023t0005g0289 a0001c0027t0007g0090 a0001c0030t0001g0084 a0001c0032t0005g0107	30	352	0.0852	-26	c.131 others(45): Show c.1312-6130_1312-6105delAGGTCCGTGCTCCTGCTGGTGTGCTG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BARD1_chr2_214720646_214814683	214723984	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02055.hp2 others(1): Show HG01123.hp1 HG01884.hp2 HG02055.hp2 HG02895.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0005c0006 a0001c0003 a0005c0006	a0001c0003t0010 a0005c0006t0020 a0001c0003t0010 a0005c0006t0020	a0001c0003t0010g0100 a0005c0006t0020g0022 a0005c0006t0020g0023 others(1): Show a0001c0003t0010g0100 a0005c0006t0020g0022 a0005c0006t0020g0023 a0005c0006t0020g0024	4	362	0.0111	-26	c.46 others(37): Show c.4666_*4691delACACACACACACACACACACACACAC	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding		1661		chr2	TogoVar
BARD1_chr2_214720646_214814683	214751101	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp1 others(112): Show HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19240.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0013 a0017 a0018 a0022	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0002c0001 a0007c0015 a0007c0018 a0007c0030 a0013c0017 a0017c0027 a0018c0020 a0022c0029	a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 others(29): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0019 a0001c0002t0024 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0003t0002 a0001c0003t0007 a0001c0003t0010 a0001c0003t0028 a0001c0003t0031 a0001c0003t0040 a0001c0003t0042 a0001c0003t0043 a0001c0003t0053 a0001c0004t0017 a0001c0004t0033 a0001c0004t0051 a0001c0022t0003 a0002c0001t0002 a0002c0001t0007 a0007c0015t0002 a0007c0018t0010 a0007c0030t0044 a0013c0017t0002 a0017c0027t0002 a0018c0020t0024 a0022c0029t0004	a0001c0002t0003g0002 a0001c0002t0003g0018 a0001c0002t0003g0020 others(106): Show a0001c0002t0003g0002 a0001c0002t0003g0018 a0001c0002t0003g0020 a0001c0002t0003g0260 a0001c0002t0003g0272 a0001c0002t0003g0275 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0303 a0001c0002t0003g0307 a0001c0002t0003g0310 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0317 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0321 a0001c0002t0003g0323 a0001c0002t0003g0329 a0001c0002t0003g0334 a0001c0002t0003g0335 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0004g0282 a0001c0002t0004g0285 a0001c0002t0004g0289 a0001c0002t0004g0293 a0001c0002t0004g0296 a0001c0002t0004g0297 a0001c0002t0004g0316 a0001c0002t0004g0325 a0001c0002t0004g0327 a0001c0002t0007g0056 a0001c0002t0019g0290 a0001c0002t0019g0302 a0001c0002t0019g0309 a0001c0002t0024g0270 a0001c0002t0024g0324 a0001c0002t0059g0318 a0001c0002t0060g0292 a0001c0002t0061g0304 a0001c0002t0062g0328 a0001c0002t0063g0326 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0040 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0067 a0001c0003t0002g0071 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0087 a0001c0003t0002g0092 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0099 a0001c0003t0002g0102 a0001c0003t0002g0107 a0001c0003t0007g0050 a0001c0003t0007g0055 a0001c0003t0007g0074 a0001c0003t0007g0081 a0001c0003t0010g0044 a0001c0003t0010g0091 a0001c0003t0010g0098 a0001c0003t0010g0100 a0001c0003t0028g0062 a0001c0003t0031g0072 a0001c0003t0031g0086 a0001c0003t0040g0052 a0001c0003t0042g0051 a0001c0003t0043g0063 a0001c0003t0053g0234 a0001c0004t0017g0231 a0001c0004t0017g0232 a0001c0004t0017g0238 a0001c0004t0017g0239 a0001c0004t0033g0229 a0001c0004t0033g0237 a0001c0004t0051g0230 a0001c0022t0003g0271 a0002c0001t0002g0182 a0002c0001t0002g0216 a0002c0001t0002g0217 a0002c0001t0007g0142 a0002c0001t0007g0148 a0002c0001t0007g0169 a0002c0001t0007g0199 a0007c0015t0002g0195 a0007c0015t0002g0218 a0007c0015t0002g0219 a0007c0015t0002g0220 a0007c0018t0010g0186 a0007c0018t0010g0187 a0007c0030t0044g0153 a0013c0017t0002g0141 a0017c0027t0002g0085 a0018c0020t0024g0284 a0022c0029t0004g0295	115	362	0.3177	-26	c.167 others(45): Show c.1677+1320_1677+1345delTATATATATACACACACACACACACA	BARD1	ENSG00000138376.11	transcript	ENST00000260947.9	protein_coding	7/10			chr2	TogoVar
BARX2_chr11_129370848_129457279	129445004	AAATAAAA others(19): Show AAATAAAAATAAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18950.hp1 HG00438.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0154 a0001c0001t0003g0122 a0001c0001t0003g0154	2	400	0.0050	-26	c.573 others(43): Show c.573+2103_573+2128delTAAATAAATAATAAAAATAAAATAAA	BARX2	ENSG00000043039.7	transcript	ENST00000281437.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
BATF_chr14_75517469_75551992	75519990	TCATCACT others(19): Show TCATCACTGTCTAACTGGCCTATGCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	376	0.0027	-26	c.-26 others(37): Show c.-2692_-2667delCATCACTGTCTAACTGGCCTATGCTG	BATF	ENSG00000156127.8	transcript	ENST00000286639.8	protein_coding		2478		chr14	TogoVar
BAZ1B_chr7_73435406_73527293	73524747	ACCTCTAT others(19): Show ACCTCTATCTCCTTTTCTTCTCACCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	200	0.0050	-26	c.-28 others(37): Show c.-2840_-2815delGAGGTGAGAAGAAAAGGAGATAGAGG	BAZ1B	ENSG00000009954.11	transcript	ENST00000339594.9	protein_coding		2455		chr7	TogoVar
BAZ2B_chr2_159313979_159621548	159324625	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(46): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG01081.hp2 HG01358.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02280.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG03017.hp2 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp2 HG06807.hp1 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA19000.hp1 NA19000.hp2 NA19055.hp2 NA19057.hp1 NA19066.hp2 NA19083.hp2 NA19240.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0015 a0017	a0001c0001 a0002c0002 a0002c0007 others(7): Show a0001c0001 a0002c0002 a0002c0007 a0002c0028 a0003c0003 a0004c0004 a0005c0005 a0008c0011 a0015c0025 a0017c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0002c0002t0001 a0002c0002t0002 a0002c0007t0002 a0002c0028t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0008c0011t0001 a0015c0025t0001 a0017c0027t0001	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(46): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0005g0130 a0001c0001t0008g0131 a0002c0002t0001g0018 a0002c0002t0001g0074 a0002c0002t0001g0077 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0125 a0002c0002t0002g0151 a0002c0002t0002g0163 a0002c0002t0002g0186 a0002c0002t0002g0211 a0002c0007t0002g0215 a0002c0028t0002g0216 a0003c0003t0001g0056 a0003c0003t0001g0059 a0003c0003t0002g0177 a0003c0003t0002g0182 a0004c0004t0001g0005 a0005c0005t0001g0042 a0008c0011t0001g0052 a0008c0011t0001g0080 a0015c0025t0001g0116 a0017c0027t0001g0106	49	216	0.2269	-26	c.635 others(43): Show c.6353+160_6353+185delGTGTGTGTGTGTGTGTGTGTGTGTGT	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	36/36			chr2	TogoVar
BBOF1_chr14_74014349_74071092	74058340	ACAACAAC others(19): Show ACAACAACAAAAAAAATCACTACCAGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03130.hp1 HG04184.hp2 HG06807.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0009 a0004c0007 a0004c0009	a0004c0007t0003 a0004c0009t0007 a0004c0007t0003 a0004c0009t0007	a0004c0007t0003g0004 a0004c0007t0003g0005 a0004c0007t0003g0006 others(7): Show a0004c0007t0003g0004 a0004c0007t0003g0005 a0004c0007t0003g0006 a0004c0007t0003g0007 a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365 a0004c0009t0007g0138 a0004c0009t0007g0139 a0004c0009t0007g0140	10	386	0.0259	-26	c.157 others(45): Show c.1578+1083_1578+1108delCAACAACAAAAAAAATCACTACCAGT	BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	11/11			chr14	TogoVar
BBS9_chr7_33124564_33611069	33294327	ATCTATCT others(19): Show ATCTATCTATCTATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	268	0.0037	-26	c.101 others(47): Show c.1016+20375_1016+20400delATCTATCTATCTATCTATCTATCT CT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33370142	TGAGTAGG others(19): Show TGAGTAGGATTATATTTTTAGAAAGCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02886.hp2 others(2): Show HG02615.hp2 HG02630.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0124 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126	5	268	0.0187	-26	c.178 others(45): Show c.1789+2283_1789+2308delGTAGGATTATATTTTTAGAAAGCAGA	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAR3_chr1_93556741_93686837	93681667	GCGCGGCC others(19): Show GCGCGGCCGGCCTCGCACCGCCCGCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0186 a0004c0005t0006g0186	1	202	0.0050	-26	c.-10 others(34): Show c.-107_-82delGCGCGGGCGGTGCGAGGCCGGCCGCG	BCAR3	ENSG00000137936.18	transcript	ENST00000260502.11	protein_coding	1/12	6738		chr1	TogoVar
BCAS3_chr17_60672851_61397831	60754680	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02615.hp2 others(9): Show HG02145.hp2 HG02451.hp1 HG02615.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0002c0005 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0008t0002 a0002c0005t0001 a0003c0001t0001	a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(9): Show a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0002g0001 a0001c0002t0002g0069 a0001c0004t0002g0072 a0001c0008t0002g0062 a0002c0005t0001g0051 a0003c0001t0001g0026	12	74	0.1622	-26	c.403 others(43): Show c.403+7437_403+7462delCACACACACACACACACACACACACA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61067259	TTATGTGT others(19): Show TTATGTGTGTATGTGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03195.hp2 HG02922.hp2 HG02965.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017	3	74	0.0405	-26	c.203 others(45): Show c.2030-7657_2030-7632delGTGTGTATGTGTATATATATATATAT	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAT1_chr12_24805024_24954101	24836906	GAGAGAAA others(19): Show GAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0297 a0001c0001t0129g0297	1	322	0.0031	-26	c.818 others(41): Show c.818-336_818-311delTTCTTTCTTTCTTTCTTTCTTTCTCT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCL11B_chr14_99164287_99277197	99199679	TGTGTGCG others(19): Show TGTGTGCGCGCGCGCGCGCACGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02970.hp1 others(5): Show HG02109.hp1 HG02145.hp1 HG02970.hp1 HG03041.hp2 HG03654.hp1 HG04184.hp1 HG04184.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0078 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0078 a0001c0002t0019 a0001c0002t0073	a0001c0001t0001g0282 a0001c0001t0002g0016 a0001c0001t0002g0040 others(5): Show a0001c0001t0001g0282 a0001c0001t0002g0016 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0102 a0001c0001t0078g0291 a0001c0002t0019g0062 a0001c0002t0073g0281	8	350	0.0229	-26	c.641 others(45): Show c.641-23510_641-23485delGTGCACGTGCGCGCGCGCGCGCACAC	BCL11B	ENSG00000127152.18	transcript	ENST00000357195.8	protein_coding	3/3			chr14	TogoVar
BCL2L13_chr22_17633757_17735855	17715122	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03927.hp1 HG04115.hp1 others(1): Show HG00423.hp2 HG03927.hp1 HG04115.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0051 a0001c0001t0002 a0001c0001t0032 a0001c0001t0051	a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0032g0166 others(1): Show a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0032g0166 a0001c0001t0051g0205	4	306	0.0131	-26	c.601 others(45): Show c.601-11531_601-11506delATATATATATATATATATATATATAT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715146	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01074.hp2 others(7): Show HG00438.hp2 HG00609.hp1 HG01074.hp2 HG01934.hp1 HG02300.hp1 NA18946.hp1 NA18964.hp1 NA18964.hp2 NA18989.hp1 NA19088.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0001t0054 a0001c0001t0056 a0003c0005t0006	a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0213 others(7): Show a0001c0001t0002g0203 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0005g0161 a0001c0001t0005g0173 a0001c0001t0005g0185 a0001c0001t0018g0207 a0001c0001t0054g0183 a0001c0001t0056g0214 a0003c0005t0006g0085	10	306	0.0327	-26	c.601 others(45): Show c.601-11529_601-11504delATATATATATATATATATATATATTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03831.hp1 NA18522.hp1 others(1): Show HG03492.hp2 HG03831.hp1 NA18522.hp1 NA18974.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0007 a0003c0005t0006 a0001c0001t0002 a0001c0001t0007 a0003c0005t0006	a0001c0001t0002g0100 a0001c0001t0002g0150 a0001c0001t0007g0108 others(1): Show a0001c0001t0002g0100 a0001c0001t0002g0150 a0001c0001t0007g0108 a0003c0005t0006g0084	4	306	0.0131	-26	c.601 others(45): Show c.601-11527_601-11502delATATATATATATATATATATATTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG03209.hp1 HG00423.hp1 HG01069.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0008 a0003c0005t0006 a0001c0001t0002 a0001c0001t0008 a0003c0005t0006	a0001c0001t0002g0176 a0001c0001t0008g0226 a0003c0005t0006g0083 a0001c0001t0002g0176 a0001c0001t0008g0226 a0003c0005t0006g0083	3	306	0.0098	-26	c.601 others(45): Show c.601-11525_601-11500delATATATATATATATATATATTTTTTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL3_chr19_44743708_44765044	44762762	CACCCGCC others(19): Show CACCCGCCTCGGCCTCCCAAAGTGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	344	0.0029	-26	c.31 others(37): Show c.3148_*3173delACCCGCCTCGGCCTCCCAAAGTGCTG	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding		2719		chr19	TogoVar
BCO1_chr16_81233689_81296142	81235175	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	402	0.0025	-26	c.-37 others(37): Show c.-3733_-3708delATATATATATATATATATATATATAA	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding		3513		chr16	TogoVar
BDKRB2_chr14_96199839_96249164	96216689	GGAGGAAG others(19): Show GGAGGAAGGAGGAGGAAGGAGGAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0280 a0001c0002t0002g0280	1	436	0.0023	-26	c.-40 others(45): Show c.-40+11746_-40+11771delAGGAGGAGGAAGAGGAAGGAGGAGGA	BDKRB2	ENSG00000168398.7	transcript	ENST00000554311.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
BECN2_chr1_241952767_241964062	241957039	CTGTGTGT others(19): Show CTGTGTGTGTGTATGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA18951.hp2 NA19030.hp1 HG03041.hp1 NA18951.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0000 a0002c0002t0000 a0001c0001t0000 a0002c0002t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000	3	444	0.0068	-26	c.-72 others(35): Show c.-727_-702delTGTGTGTGTGTATGTGTGTGTGTGTG	BECN2	ENSG00000196289.7	transcript	ENST00000419583.2	protein_coding		727		chr1	TogoVar
BEND2_chrX_18157931_18225886	18224006	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	295	0.0034	-26	c.-32 others(37): Show c.-3282_-3257delATATATATATATATATATATATATAT	BEND2	ENSG00000177324.14	transcript	ENST00000380033.9	protein_coding		3121		chrX	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(19): Show GTATGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	368	0.0027	-26	c.241 others(43): Show c.241-2273_241-2248delTATATATATATATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEND3_chr6_107060182_107120515	107073201	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01243.hp1 HG01123.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0139 a0001c0002t0001g0270 a0001c0001t0003g0139 a0001c0002t0001g0270	2	368	0.0054	-26	c.241 others(43): Show c.241-2277_241-2252delTATATATATATATATATATATATATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BEX1_chrX_103057651_103069171	103059998	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	339	0.0030	-26	c.28 others(37): Show c.2873_*2898delTATATATAGAGAGAGAGAGAGAGAGA	BEX1	ENSG00000133169.6	transcript	ENST00000372728.4	protein_coding		2652		chrX	TogoVar

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