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
RSPH10B_chr7_5921136_5975689	5930783	A A	ACCTAGCA others(198): Show ACCTAGCAGCAAAGGTGAGCACGTACACAGCCCCCCAAGATGCCTAGCAG CAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGA GCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACA CAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCC AAGATG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0067 a0003c0004t0003g0067	1	70	0.0143	205	c.223 others(224): Show c.2233+1998_2233+1999insCATCTTGGGGGGCTGTGTACATGCTC ACCTTTGCTGCTAGGCATCTTGAGGGGCTGTGTACATGCTCACCTTTGCT GCTAGGCATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGTAT CTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGCATCTTGGGGGG CTGTGTACGTGCTCACCTTTGCTGCTAGG	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42477101	C C	CCCCCTCC others(198): Show CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC CCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC CTCTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0331 a0002c0003t0001g0331	1	408	0.0025	205	c.727 others(220): Show c.727+189_727+190insTCAGAGGGTGTAGGGCACCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGG GGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGG GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC ATCCCCGGGCTGTGGGGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477183	A A	ACCCCTCC others(198): Show ACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA CCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGC CCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTG CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC CTCTGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0192 a0001c0001t0004g0192	1	408	0.0025	205	c.727 others(220): Show c.727+107_727+108insGCAGAGGGTGTAGGGCACCCCCGGGCTGTG GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGG GGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG GTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC ACCCCCGGGCTGTGGAGTGGAGGGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477223	G G	GACCCCTC others(198): Show GACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAG CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT GCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACAC CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC CCTCCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	408	0.0025	205	c.727 others(218): Show c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAG TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGG CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATC CCCGGGCTGTGGGGTGGAGGGGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(198): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	408	0.0025	205	c.727 others(218): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(198): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	408	0.0025	205	c.727 others(218): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCACCCCCGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477239	G G	GTGCCCCA others(198): Show GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC ACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGC CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC CGGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	408	0.0025	205	c.727 others(218): Show c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCA CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG GAGGGGGCAGAGGGTGTGGGGCA	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(198): Show CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC TGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG TGCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18981.hp2 NA19002.hp2 others(1): Show NA18961.hp2 NA18981.hp2 NA19002.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0003 a0001c0001t0001g0048	4	408	0.0098	205	c.727 others(218): Show c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT GGGGTGGAGGGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSPH1_chr21_42467486_42501224	42477245	C C	CACACCCT others(198): Show CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTC TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA TGCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	408	0.0025	205	c.727 others(218): Show c.727+45_727+46insAGGGCATCCCCGGGCTGTGGGGTGGAGGGGGC AGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT GGAGTGGAGGGGGCAGAGGGTGT	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RYR2_chr1_237037184_237838988	237286556	C C	CTTTATTG others(198): Show CTTTATTGACTTTCTGTCTTGATGACCTGTCTGGTGCTGTCAGTGGAACA TTGAAGTCCCCCCGCTATTATTATGTTGCTGTCTGTCTCATTTGTTAGGT CTATTAGTAATTGTTTTATAAATTTGGGAGCTCCAGTGTTAGGTGCATAT ATGTTTAGGATTGTGATATTTTCCTGTTGCACAAGGCCTTTTACTATCAT ATACCA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp2 others(10): Show HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01361.hp2 HG01928.hp2 HG02293.hp1 HG02293.hp2 HG03471.hp1 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0027 a0001c0042 a0001c0047 a0002c0009 a0003c0006 a0003c0013	a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0009 a0001c0003t0001 a0001c0003t0003 a0001c0004t0020 a0001c0007t0019 a0001c0027t0002 a0001c0042t0017 a0001c0047t0002 a0002c0009t0002 a0003c0006t0002 a0003c0013t0001	a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0002t0009g0021 others(10): Show a0001c0001t0003g0100 a0001c0001t0004g0036 a0001c0002t0009g0021 a0001c0003t0001g0078 a0001c0003t0003g0046 a0001c0004t0020g0093 a0001c0007t0019g0057 a0001c0027t0002g0085 a0001c0042t0017g0050 a0001c0047t0002g0077 a0002c0009t0002g0079 a0003c0006t0002g0006 a0003c0013t0001g0091	13	100	0.1300	205	c.168 others(224): Show c.168+15944_168+15945insTTGACTTTCTGTCTTGATGACCTGTC TGGTGCTGTCAGTGGAACATTGAAGTCCCCCCGCTATTATTATGTTGCTG TCTGTCTCATTTGTTAGGTCTATTAGTAATTGTTTTATAAATTTGGGAGC TCCAGTGTTAGGTGCATATATGTTTAGGATTGTGATATTTTCCTGTTGCA CAAGGCCTTTTACTATCATATACCATTTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237286556	C C	CTTTATTG others(198): Show CTTTATTGACTTTCTGTCTTGATGACCTGTCTGGTGCTGTCAGTGGAGCA TTGAAGTCCCCCCGCTATTATTATGTTGCTGTCTGTCTCATTTGTTAGGT CTATTAGTAATTGTTTTATAAATTTGGGAGCTCCAGTGTTAGGTGCATAT ATGTTTAGGATTGTGATATTTTCCTGTTGCACAAGGCCTTTTACTATCAT ATACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp2 others(61): Show HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04228.hp2 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0028 a0001c0029 a0001c0030 a0001c0036 a0001c0040 a0001c0041 a0001c0044 a0001c0045 a0002c0009 a0002c0012 a0002c0025 a0002c0035 a0002c0038 a0002c0039 a0003c0006 a0003c0021 a0003c0043 a0004c0034 a0005c0033 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(56): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0026 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0006 a0001c0005t0034 a0001c0007t0001 a0001c0007t0016 a0001c0008t0027 a0001c0008t0028 a0001c0008t0042 a0001c0010t0004 a0001c0010t0029 a0001c0011t0004 a0001c0011t0044 a0001c0014t0035 a0001c0015t0006 a0001c0016t0033 a0001c0017t0037 a0001c0018t0032 a0001c0019t0022 a0001c0022t0014 a0001c0023t0003 a0001c0028t0007 a0001c0029t0008 a0001c0030t0005 a0001c0036t0003 a0001c0040t0039 a0001c0041t0006 a0001c0044t0002 a0001c0045t0001 a0002c0009t0004 a0002c0009t0008 a0002c0012t0002 a0002c0012t0023 a0002c0025t0040 a0002c0035t0021 a0002c0038t0043 a0002c0039t0036 a0003c0006t0004 a0003c0021t0001 a0003c0043t0002 a0004c0034t0011 a0005c0033t0008 a0006c0020t0001	a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0089 others(61): Show a0001c0001t0001g0099 a0001c0001t0003g0023 a0001c0001t0003g0089 a0001c0001t0006g0025 a0001c0001t0007g0011 a0001c0001t0007g0082 a0001c0001t0015g0069 a0001c0001t0041g0001 a0001c0002t0001g0070 a0001c0002t0002g0022 a0001c0002t0003g0008 a0001c0002t0003g0052 a0001c0002t0013g0017 a0001c0002t0026g0059 a0001c0002t0031g0033 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0002g0087 a0001c0003t0003g0084 a0001c0003t0004g0016 a0001c0003t0004g0060 a0001c0004t0001g0058 a0001c0004t0002g0092 a0001c0005t0006g0029 a0001c0005t0034g0028 a0001c0007t0001g0020 a0001c0007t0016g0042 a0001c0008t0027g0081 a0001c0008t0028g0039 a0001c0008t0042g0002 a0001c0010t0004g0097 a0001c0010t0029g0051 a0001c0011t0004g0064 a0001c0011t0044g0054 a0001c0014t0035g0031 a0001c0015t0006g0034 a0001c0016t0033g0024 a0001c0017t0037g0032 a0001c0018t0032g0041 a0001c0019t0022g0035 a0001c0022t0014g0066 a0001c0023t0003g0071 a0001c0028t0007g0062 a0001c0029t0008g0090 a0001c0030t0005g0053 a0001c0036t0003g0038 a0001c0040t0039g0095 a0001c0041t0006g0027 a0001c0044t0002g0014 a0001c0045t0001g0073 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0002g0072 a0002c0012t0023g0074 a0002c0025t0040g0003 a0002c0035t0021g0010 a0002c0038t0043g0096 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0021t0001g0019 a0003c0043t0002g0068 a0004c0034t0011g0043 a0005c0033t0008g0049 a0006c0020t0001g0015	64	100	0.6400	205	c.168 others(224): Show c.168+15944_168+15945insTTGACTTTCTGTCTTGATGACCTGTC TGGTGCTGTCAGTGGAGCATTGAAGTCCCCCCGCTATTATTATGTTGCTG TCTGTCTCATTTGTTAGGTCTATTAGTAATTGTTTTATAAATTTGGGAGC TCCAGTGTTAGGTGCATATATGTTTAGGATTGTGATATTTTCCTGTTGCA CAAGGCCTTTTACTATCATATACCATTTA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(198): Show AATACAGTACTTATTTATAAATACAGTACTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	332	0.0030	205	c.632 others(222): Show c.632+8312_632+8313insCAGTACTTATTTATAAATACAGTACTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(198): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG03098.hp1 others(4): Show HG00558.hp2 HG02145.hp2 HG03098.hp1 HG03209.hp2 NA18966.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0276 others(4): Show a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0286 a0001c0001t0003g0323 a0001c0001t0004g0320	7	332	0.0211	205	c.632 others(222): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACACTCA others(198): Show CACACTCACCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCAC CCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	356	0.0028	205	c.127 others(224): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGTGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACACTCA others(198): Show CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCTGCACCCTCAC CCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0311 a0001c0003t0001g0311	1	356	0.0028	205	c.127 others(224): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGTGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839966	C C	CCCTCGCC others(198): Show CCCTCGCCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCGCCC CAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCT CCGCAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03710.hp1 HG01106.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0152 a0001c0002t0003g0153 a0001c0001t0001g0152 a0001c0002t0003g0153	2	356	0.0056	205	c.127 others(224): Show c.127-22260_127-22259insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTG CGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGCGAGGGTGCGGAGAAAT CGGGGCCCATGTGTGCCGTTGGGGCGAGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840007	C C	CACTCACC others(198): Show CACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCC CAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCT CCGCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18942.hp1 HG01081.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0171 a0001c0003t0002g0069 a0001c0001t0001g0171 a0001c0003t0002g0069	2	356	0.0056	205	c.127 others(224): Show c.127-22301_127-22300insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATG CGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAAT CGGGGCCCATGTGTGCCGTTGGGGTGAGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(44): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03927.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18948.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0020 a0002c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0007t0001 a0001c0007t0005 a0001c0010t0003 a0001c0020t0003 a0002c0006t0002 a0002c0006t0005 a0005c0011t0002	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 others(44): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0001g0318 a0001c0001t0002g0229 a0001c0001t0002g0253 a0001c0001t0003g0257 a0001c0001t0004g0155 a0001c0001t0005g0057 a0001c0001t0006g0041 a0001c0002t0001g0147 a0001c0002t0001g0189 a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0005g0255 a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 a0001c0003t0001g0215 a0001c0003t0002g0056 a0001c0003t0002g0136 a0001c0003t0002g0149 a0001c0003t0002g0160 a0001c0003t0002g0187 a0001c0003t0002g0192 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0003t0002g0273 a0001c0003t0002g0317 a0001c0003t0007g0274 a0001c0007t0001g0107 a0001c0007t0001g0150 a0001c0007t0005g0191 a0001c0010t0003g0259 a0001c0020t0003g0343 a0002c0006t0002g0017 a0002c0006t0005g0018 a0005c0011t0002g0210 a0005c0011t0002g0250	47	356	0.1320	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18983.hp2 NA19066.hp2 others(1): Show HG00639.hp2 NA18983.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0002g0096 a0001c0002t0001g0177 a0001c0003t0002g0103 others(1): Show a0001c0001t0002g0096 a0001c0002t0001g0177 a0001c0003t0002g0103 a0001c0004t0001g0099	4	356	0.0112	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01361.hp1 HG03130.hp1 others(1): Show HG01069.hp1 HG01361.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0172 a0001c0001t0003g0038 a0001c0001t0003g0239 others(1): Show a0001c0001t0001g0172 a0001c0001t0003g0038 a0001c0001t0003g0239 a0001c0001t0008g0330	4	356	0.0112	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACGCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CAGCAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0006 a0001c0018t0006	a0001c0018t0006g0340 a0001c0018t0006g0340	1	356	0.0028	205	c.127 others(224): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGCGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CAGCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0015 a0001c0005t0001 a0001c0004t0015 a0001c0005t0001	a0001c0004t0015g0059 a0001c0005t0001g0350 a0001c0004t0015g0059 a0001c0005t0001g0350	2	356	0.0056	205	c.127 others(224): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCRIB_chr8_143785925_143820773	143808399	A A	AGTCCAAG others(198): Show AGTCCAAGCATGGACTGAGACCAACGCCAGGGCAGGCCTGGAGTCCAAGC ATGGACTGAGACCAACGCCAGGGCAGGCCTGGGGTCCAAGCATGGACTGA GACCAATGCCAGGGCAGGCCTGGAGTCCAAGCATGGACTGAGACCAACGC CAGGGCAGGCCTGGGGTCCAAGCATGGACTGAGACCAACGCCAGGGCAGG CCTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01070.hp2 others(7): Show HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG03834.hp1 HG04184.hp2 NA18972.hp1 NA18974.hp1 NA19056.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0029 a0002 a0004 a0029	a0002c0030 a0004c0007 a0029c0072 a0002c0030 a0004c0007 a0029c0072	a0002c0030t0001 a0004c0007t0001 a0029c0072t0001 a0002c0030t0001 a0004c0007t0001 a0029c0072t0001	a0002c0030t0001g0062 a0004c0007t0001g0034 a0004c0007t0001g0217 others(4): Show a0002c0030t0001g0062 a0004c0007t0001g0034 a0004c0007t0001g0217 a0004c0007t0001g0218 a0004c0007t0001g0220 a0004c0007t0001g0221 a0029c0072t0001g0219	10	387	0.0258	205	c.211 others(222): Show c.2115+209_2115+210insCCCAGGCCTGCCCTGGCGTTGGTCTCAG TCCATGCTTGGACCCCAGGCCTGCCCTGGCGTTGGTCTCAGTCCATGCTT GGACTCCAGGCCTGCCCTGGCATTGGTCTCAGTCCATGCTTGGACCCCAG GCCTGCCCTGGCGTTGGTCTCAGTCCATGCTTGGACTCCAGGCCTGCCCT GGCGTTGGTCTCAGTCCATGCTTGGAC	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	15/36			chr8	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(198): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01257.hp1 others(12): Show HG00738.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp2 HG02602.hp2 HG02976.hp2 HG03239.hp2 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18969.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0026 others(2): Show a0001c0001t0005 a0001c0001t0020 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037	a0001c0001t0005g0010 a0001c0001t0005g0192 a0001c0001t0005g0202 others(11): Show a0001c0001t0005g0010 a0001c0001t0005g0192 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0205 a0001c0001t0005g0208 a0001c0001t0005g0209 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0020g0007 a0001c0001t0026g0204 a0001c0001t0036g0201 a0001c0001t0037g0206	15	346	0.0434	205	c.61+ others(222): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAAAGTTGGAGAGTATT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(198): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAACATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATATTATATAATATATTGTATATTATATAT TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	366	0.0027	205	c.-15 others(216): Show c.-1543_-1542insTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATAATATATAATATACAATATATTATATA ATATATAATATACAATATATTATATATAATATACAATATATTATATATAA TATACAATATGTTATATATAATATACAATATACAATATATTATATAATAT ACAATATATTATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(198): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATAAATATATATTTATATAACATATA AATATATATTTATATAACATATAAATATATATTTATATAACATATAAATA TATATT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	102	0.0098	205	c.39+ others(224): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATGTTATATAAATATATATTTATATGTTATATAAATATATATTTAT ATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATATGT TATATAAATATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM1_chr22_24801211_24932578	24900391	C C	CTTTCTTT others(198): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTTCTTT CTTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	338	0.0030	205	c.261 others(224): Show c.2611-1425_2611-1424insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTT CTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2773298	A A	ATGGGTGA others(198): Show ATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	396	0.0025	205	c.-23 others(222): Show c.-23-4208_-23-4207insCCTCTGCCCTCGGTGTCCCTGCCGTGTG GCCGCGTCACCCACCTCTGCCCTCGGTGTCCCCGCCGTGTGGCCGCGTCA CCCATCTCTGCCCTCGGTGTCCCTGCCCTGTGGCCGCGTCACCCATCTCT GCCCTCGGTGTCCCTGCCGTGTGGCCGCGTCACCCACCTCTGCCCTCGGT GTCCCCGCCGTGTGGCCGCGTCACCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(198): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	256	0.0039	205	c.165 others(222): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	410945	G G	GGGAGGGG others(198): Show GGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACA GTCGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	242	0.0041	205	c.-15 others(222): Show c.-153-919_-153-918insACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGC ACCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGAC TGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGCCGACTGTATCCAGA CATGGTCAGAGCTGGGCACCCCCCTCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC25A13_chr7_96115220_96327098	96166256	A A	AATACCCT others(198): Show AATACCCTGGACCCATTATCAAAGGACCATAGTTTAAAAAACATGTTAAT TTGTCTTTCCAAAAATTACTACACAATACTATTACTTTCTCTTGTTATAT AAACAGTTTTTACTAAATATGGCTTTATAAGACAGATGTTCATACTTTCA TGACTTTCTTTCTTAGTAATATTAGATTTATTTTCAGGCCAAATAAATTA ATCATC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0198	1	276	0.0036	205	c.131 others(224): Show c.1311+3584_1311+3788dupGATGATTAATTTATTTGGCCTGAAAA TAAATCTAATATTACTAAGAAAGAAAGTCATGAAAGTATGAACATCTGTC TTATAAAGCCATATTTAGTAAAAACTGTTTATATAACAAGAGAAAGTAAT AGTATTGTGTAGTAATTTTTGGAAAGACAAATTAACATGTTTTTTAAACT ATGGTCCTTTGATAATGGGTCCAGGGTAT	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC2A8_chr9_127392169_127412898	127409324	A A	AAGATGAT others(198): Show AAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATG GGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGG GGGGAGATGATGGAGAGGTGGGGGAGATGATGGAGAGGTGGGGGGAGATG ATGGAGAGGTGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGG TGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02683.hp2 HG03490.hp1 others(3): Show HG01361.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0002g0090	6	418	0.0144	205	c.20 others(216): Show c.2075_*2076insAGATGATGGGGAGGTGGGGGGAGATGATGGAGAG GTGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAG ATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGAG AGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGGGGG GAGATGATGGAGAGGTGGGGG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1427		chr9	TogoVar
SLC35A1_chr6_87467974_87517336	87507828	C C	CGGCTAAT others(198): Show CGGCTAATTTTTGTATTTTTGTAGAGACAGGTTTTCGCCCTGGTGGCCAG GCTGGTTTCGAACTTCTGGCCTCAGGTGATCCACCCACATCGGCCTCCCA AAATGCTAGATTACAGGGATGAACTGCCATGCCCGGCCAACTTTAAGTTT TAAATTGGATGTCGAAGAGTGCGTGGAAGAACAGAAGCAGTCAGATAATA GAATTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00738.hp2 others(16): Show HG00323.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02451.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03710.hp2 NA18944.hp1 NA18945.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0035 others(13): Show a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0182 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0007g0033 a0001c0001t0009g0035	19	398	0.0477	205	c.575 others(220): Show c.575-592_575-591insGGCTAATTTTTGTATTTTTGTAGAGACAGG TTTTCGCCCTGGTGGCCAGGCTGGTTTCGAACTTCTGGCCTCAGGTGATC CACCCACATCGGCCTCCCAAAATGCTAGATTACAGGGATGAACTGCCATG CCCGGCCAACTTTAAGTTTTAAATTGGATGTCGAAGAGTGCGTGGAAGAA CAGAAGCAGTCAGATAATAGAATTG	SLC35A1	ENSG00000164414.19	transcript	ENST00000369552.9	protein_coding	5/7			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387743	T T	TTATATAA others(198): Show TTATATAAATATATATTATATATTATATATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATATTATATATA ATATATAAATATATTATATATATTATATATAATATATAAATATATTATAT ATATTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	346	0.0029	205	c.-70 others(222): Show c.-70-5148_-70-5147insTAATATATATAATATATTTATATATTAT ATATAATATATATAATATATTTATATATTATATATAATATATATAATATA TTTATATTTATATATAATATATATAATATATTTATATTTATATATAATAT ATATAATATATTTATATTATATATAATATATATAATATATTTATATTTAT ATATAATATATAATATATATTTATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A11_chr3_10811228_10945714	10873404	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTAT CCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18985.hp2 HG01074.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0004 a0001c0001t0001 a0001c0007t0004	a0001c0001t0001g0297 a0001c0007t0004g0074 a0001c0001t0001g0297 a0001c0007t0004g0074	2	362	0.0055	205	c.757 others(222): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTAT CCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01952.hp2 HG02683.hp1 others(2): Show HG01123.hp2 HG01952.hp2 HG02683.hp1 HG02970.hp2 NA18973.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0025	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0005c0025t0002	a0001c0001t0001g0222 a0001c0001t0001g0290 a0001c0002t0002g0075 others(2): Show a0001c0001t0001g0222 a0001c0001t0001g0290 a0001c0002t0002g0075 a0001c0003t0001g0051 a0005c0025t0002g0305	5	362	0.0138	205	c.757 others(222): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTAC ACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	362	0.0028	205	c.757 others(222): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(198): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	410	0.0024	205	c.152 others(222): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558730	G G	GTGAGGGG others(198): Show GTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGG AGTGAATGTGAGTGAGGGGGAGTGAATGTGAATGAGGGGGAGTGAATGTG AGTGACGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGTGG AGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGT GAATGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	330	0.0030	205	c.-11 others(224): Show c.-114-4871_-114-4870insTCATTCACATTCACTCCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACTCACATTCACT CCCCCTCACTCACATTCACTCCCCGTCACTCACATTCACTCCCCCTCATT CACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACT CCCCCTCACTCACATTCACTCCCCCCTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMOC2_chr6_168436184_168672992	168654473	T T	TACCTGAG others(198): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGA ACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAA CCCTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02004.hp1 HG02970.hp2 others(2): Show HG00558.hp2 HG02004.hp1 HG02970.hp2 NA18939.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0003g0169 a0001c0002t0002g0029	5	180	0.0278	205	c.128 others(224): Show c.1285+1261_1285+1262insGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGAT GTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAAC TCACCAACCCTGCACCTGAGCTCCAACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168655005	G G	GCACCTGA others(198): Show GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0106 a0001c0001t0003g0107	2	180	0.0111	205	c.128 others(224): Show c.1285+1981_1285+1982insACACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168655046	G G	GCACCTGA others(198): Show GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp1 HG01069.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0090 a0001c0001t0003g0109	2	180	0.0111	205	c.128 others(224): Show c.1285+2022_1285+2023insACACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1222536	T T	TGCTGGAC others(198): Show TGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCT GTCCTGCTGTGGAGGTGCTGGACCGCTGTAGAGGAAGGCGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	190	0.0053	205	c.719 others(224): Show c.719+13312_719+13313insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGGACCGCTGTAGAG GAAGGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGGGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(198): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC ATGATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18986.hp1 HG04115.hp2 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0014 a0001c0002t0007 a0001c0004t0014	a0001c0002t0007g0175 a0001c0004t0014g0343 a0001c0002t0007g0175 a0001c0004t0014g0343	2	356	0.0056	205	c.-11 others(226): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATTATATAACATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(198): Show CCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCCTCCCGCTTTCCAACCC CTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	205	c.54 others(216): Show c.5407_*5408insAGAGAGGGGTTGGAAAGCGGGAGGGGGGAGGGAG AGGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGG GAGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(198): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	260	0.0039	205	c.138 others(224): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRRM4_chr12_118976541_119168051	119044041	T T	TTTTTTTT others(198): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTT TTTGTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0117 a0001c0001t0026g0117	1	328	0.0031	205	c.132 others(224): Show c.132-58190_132-58189insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTTTTTTTTTTTTTTTTTTTTGTATTTTT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(198): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATATACATATATACACAT ATGTGTACATATGTGTATATATACATATATATACACATATATATGTATAT ATACACATATGTGAATATGTATATATGTGTTATATATACACATATGTGTA TATGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02717.hp1 NA19072.hp2 HG00438.hp2 HG02717.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0043 a0001c0001t0007 a0001c0001t0017 a0001c0001t0043	a0001c0001t0007g0122 a0001c0001t0017g0322 a0001c0001t0043g0221 a0001c0001t0007g0122 a0001c0001t0017g0322 a0001c0001t0043g0221	3	376	0.0080	205	c.158 others(224): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATATACATATATACACATATGTGTACATATGTGTATATATACATATAT ATACACATATATATGTATATATACACATATGTGAATATGTATATATGTGT TATATATACACATATGTGTATATGTATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYTL3_chr6_158645054_158769871	158704861	G G	GCAGGGTG others(198): Show GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAG GGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCG GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC GGGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACC TGGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	292	0.0034	205	c.395 others(222): Show c.395-2271_395-2270insGGGGCAGGGTGACAGTGAGGGCTGTAAG GCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGCTATAA GGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTGACAGTGAGGGCTGT AAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTG TAAGGCCACATAGGGCAGGAGGGACCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(198): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	266	0.0038	205	c.-23 others(224): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar

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