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
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(500): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGCATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCCATA TGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATATATT GTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAAT ATATAGTATATGCTATATGGTATATATTGTATATAAAATATATAGTATAT GCTATATGGTATATATTGTATATAAAATATATATTATATGCTATATGGTA TATATTGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02486.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0023 a0001c0001t0037	a0001c0001t0004g0071 a0001c0001t0015g0070 a0001c0001t0015g0073 others(2): Show a0001c0001t0004g0071 a0001c0001t0015g0070 a0001c0001t0015g0073 a0001c0001t0023g0072 a0001c0001t0037g0074	5	196	0.0255	507	c.-9+ others(524): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATAATAT ATATTTTATATACAATATATACCATATAGCATATACTATATATTTTATAT ACAATATATACCATATAGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATATACAATATATACCATAT GGCATATACTATATATTTTATATACAATATATACCATATGGCATATACTA TATATTTTATATGCAATATATACCATATGGCATATACTATATATTTTATA TGCAATATATACCATATGGCATATACTATATATTTTATATGCAATATATA CCATATGGCATATACTATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RPH3AL_chr17_207389_357807	356598	T T	TCACAGTC others(500): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01255.hp1 others(7): Show HG01070.hp1 HG01070.hp2 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01943.hp2 HG02738.hp2 HG03540.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0009 a0002c0005t0023	a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0003g0098 others(7): Show a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0003g0098 a0001c0001t0004g0096 a0001c0001t0004g0121 a0001c0001t0006g0072 a0001c0001t0007g0097 a0001c0001t0008g0130 a0001c0002t0009g0126 a0002c0005t0023g0125	10	133	0.0752	507	c.-41 others(518): Show c.-4100_-4099insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3792		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(500): Show GTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCCGTCCCCTCTGCGGCCCTCACCCCGTC CCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCT GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGC GGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0086 a0001c0086	a0001c0086t0004 a0001c0086t0004	a0001c0086t0004g0172 a0001c0086t0004g0172	1	196	0.0051	507	c.394 others(524): Show c.3940-492_3940-491insGTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCC TCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178012	A A	ATCGGGCT others(500): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	507	c.-78 others(516): Show c.-781_-780insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		756		chr19	TogoVar
SARDH_chr9_133658560_133743352	133668591	T T	TCCCCTTA others(500): Show TCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCCTCTCCCCTCACCCTCATCCTCCCTCTCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCATCCT CCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCT CTCCCCTTACCCTCCCTCTCCCTCTCCTTCCCTCTCCCTTACCCTCCCTC TCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0174 a0001c0016t0003g0174	1	262	0.0038	507	c.249 others(526): Show c.2496-1722_2496-1721insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGG GAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTAAGGG AGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGA GGGAAGGAGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAT GGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTGAGGGAGAGGG AGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGATGAGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGTGAGGGGAGAGGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGAG AGGGAGGGTGAGGGAGGGGGAGGGTAAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(500): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCG GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCTGGCCAGCTG CCCCGTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18944.hp2 NA18972.hp2 HG02129.hp1 NA18944.hp2 NA18972.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0123 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0123 a0001c0003t0002g0180 a0001c0003t0002g0181	3	370	0.0081	507	c.284 others(526): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SHOX_chrX_625791_656584	626585	G G	GTCTATCT others(500): Show GTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTTCTCTGTCTCTGTCTG TATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTCGTTCCTCTCTCTCTT TTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTC CTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGT CTCTCTTTCTCTCCTCTCTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTC TCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTTTCTCTCCTCTCTCTGTA TCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTCTTTTTCTCTGTCTCT GTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTCTCATCTCTCTCTGTC TCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCTGTCTCTCTTTCTCTC CTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTCTCTCTCTCCTCTCTC TCTGTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0125 a0001c0001t0184g0125	1	220	0.0046	507	c.-43 others(518): Show c.-4313_-4312insTCTATCTCTGTCTCTCTCTCTCCTCTCTCTCTTT CTCTGTCTCTGTCTGTATCTCTATCTCTGTCTCTCTTTCTCTCTGTCTTC GTTCCTCTCTCTCTTTTTCTCTTTCTCTGTATCTCTGTCTATCTCTGTCT CTCTTTCTCTCTCTCCTCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTG TGTCTCTACCTCTGTCTCTCTTTCTCTCCTCTCTTTCTCTGTCTCTGTCT GTCTCTGTCTCTCTCTCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTTTC TCTCCTCTCTCTGTATCTCTGTCTCTGTCTCTCTTTCTCTCCTCTCTCTC TTTTTCTCTGTCTCTGTATCTCTGTCTATCTCTGTCTCTCTTTCTCTCTC TCATCTCTCTCTGTCTCTTTTTCTCTGTCTCTCTCTGTGTCTCTACCTCT GTCTCTCTTTCTCTCCTCTCTTTTTCTCTGTCTCTGTCTGTCTCTGTCTC TCTCTCTCCTCTCTCTCTGTATC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4205		chrX	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(500): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp2 HG01261.hp1 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0056 a0003c0007t0001g0184 a0001c0001t0001g0056 a0003c0007t0001g0184	2	190	0.0105	507	c.72+ others(524): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(500): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0095 a0003c0008t0001g0095	1	190	0.0053	507	c.72+ others(524): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(500): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATATAACATATAATGATATATAATATATATCATAT AACATATG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG04184.hp2 HG01106.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0040 a0001c0002t0001 a0001c0002t0040	a0001c0002t0001g0066 a0001c0002t0040g0046 a0001c0002t0001g0066 a0001c0002t0040g0046	2	356	0.0056	507	c.-11 others(528): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATAA TGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(500): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGG AAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAA GGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGG AAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	251	0.0040	507	c.34 others(516): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGC TTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCC CTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852271	T T	TGGCCCAT others(500): Show TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCC CCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAG ATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCC CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCA TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTT CCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCT CTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCG GATCCCAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	356	0.0028	507	c.645 others(524): Show c.645+1629_645+1630insCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT CCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTC CCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCGGATCCCACGGCCCATCTTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852292	C C	CCCACCCC others(500): Show CCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCG GATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGC CCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCAT CCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCAC CCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCC CATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGGATCCCATGGCCCATC TTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCC CTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCC GGATCCCATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGGATCCCCTGG CCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0017 a0001c0009t0001g0017	1	356	0.0028	507	c.645 others(524): Show c.645+1638_645+1639insCCCAGATCCCCTGGCCCATCTTCCATCC TCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCC CCCGGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTT CCATCCTCCCCCCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCC CCACCCCCCGGATCCCATGGCCCATCTTCCGTCCTCTCCCCACCCCCCGG ATCCCATGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCCATGGCC CATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCATC CTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCGTCCTCTCCCCACC CCCCGGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCAGATCCC ATGGCCCATCTTCCATCCTCCCTCCACCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(500): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	422	0.0024	507	c.64 others(518): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCAT CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC ACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGC TGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(500): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	422	0.0024	507	c.64 others(518): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA TCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCG CTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(500): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	270	0.0037	507	c.451 others(524): Show c.451-2587_451-2586insCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1627843	G G	GGGGGTGA others(500): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGA ACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AACTCACGGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAG GTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCA GAACTCAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0184 a0001c0002t0002g0184	1	352	0.0028	507	c.299 others(522): Show c.299-418_299-417insGTGAGTTCTGCTGTCCCCTTCCCACCTCAC CCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTC ACCCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCCGTGAGT TCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628639	A A	AGGCGGGA others(500): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0349 a0001c0002t0035g0349	1	352	0.0028	507	c.299 others(524): Show c.299-1214_299-1213insCCACCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCC TTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(500): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGATGA GGTGGGAAGGGGACAGTAGAGCTCACAGAGGGTGAGGCGGAAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAAAACTCACGGGGTGGGGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCATGGG GATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGG ACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCATG GGGTGAGGCGGGAAGGGGACAGCAGAGCTCATGGGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCA TGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAG GGGACAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0018 a0005c0010t0018	a0005c0010t0018g0171 a0005c0010t0018g0171	1	352	0.0028	507	c.299 others(524): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCAT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCATGAGCTCTGCTGTCCCCT TCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCG TGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCC CTTCCTGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CGTGAGTTTTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCC CCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCTCACC CTCTGTGAGCTCTACTGTCCCCTTCCCACCTCATCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAA others(500): Show ATATATAATATACCTATTATATACATTATATATAATATACCTATTATATG CATTATATATAATATACCTATTATATGCATTATATATAATATACCTATTA TATGCATTATATATAATATACCTATTATATGCATTATATAATATATTATA TATAATATGCATATTATATGTATTATATATTATATATTATATATAATATA CATATTATATGTATTATATATAATATATTATATATATAATATACATATTA TATGTATTATATATTACATATAATATACATATTATATATTATATATTATA TACATATTATATATTATATATTATATACATATTATATATTATATACATAT TATATATTATATATTATATACATATTATACATTATATATATCTAAAATAT ATAATACACATTATATATTATATAATACACATTATATATTATATATAATA CACATTATATATAATATATAATACACATTATATATTATATATAATACACA TTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02976.hp2 HG01361.hp2 HG01891.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0148 a0001c0001t0005g0200 a0001c0001t0005g0119 a0001c0001t0005g0148 a0001c0001t0005g0200	3	360	0.0083	507	c.62 others(518): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATTATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATTATATGTAATATATAATACATATAATATGTATATTATATATATAATAT ATTATATATAATACATATAATATGTATATTATATATAATATATAATATAT AATACATATAATATGCATATTATATATAATATATTATATAATGCATATAA TAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GTATATAATAGGTATATTATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THAP4_chr2_241579405_241642158	241591138	T T	TCAGAGCT others(500): Show TCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCT CGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTA GGACACTCAGAGCTGCCCGGCTGATGATGATGGGCACTAGGACACACAGA ACTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCT GACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGG GCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACA CACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACGCAGAGCTGC TCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGA TGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACT AGGACAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	390	0.0026	507	c.161 others(526): Show c.1615-6414_1615-6413insTCTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGCGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGT GTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGGGCAGCTCTGAGTGTCCTACTGCCCATCATCATCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(500): Show TATGATGATCTGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATACACTA TATCATCATATGATGATATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATAACATGATGATATGATACTATATCATCATATAACATGA TGATATGATACTATATCATCATATAACATGATGATATGATACTATATCAT CATATAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0018 a0005c0010t0018	a0005c0010t0018g0144 a0005c0010t0018g0144	1	174	0.0058	507	c.41- others(524): Show c.41-49239_41-49238insCTGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATATACTATATCATCATATGATG ATATGATACACTATATCATCATATGATGATATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATAACATGATGATATGATACTATATCA TCATATAACATGATGATATGATACTATATCATCATATAACATGATGATAT GATACTATATCATCATATAACATGATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(500): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTAT CCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTT CCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCT TTCCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19043.hp1 NA19240.hp2 HG02258.hp1 NA19043.hp1 NA19240.hp2	a0001 a0022 a0001 a0022	a0001c0002 a0022c0029 a0001c0002 a0022c0029	a0001c0002t0002 a0022c0029t0002 a0001c0002t0002 a0022c0029t0002	a0001c0002t0002g0024 a0022c0029t0002g0094 a0001c0002t0002g0024 a0022c0029t0002g0094	3	334	0.0090	507	c.657 others(522): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTT CCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCC TTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TWIST2_chr2_238843085_238915534	238909177	A A	AGTGTGTG others(500): Show AGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGGGGTGTGGTGT GTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGGTGT GTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGTGTA GTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTTGTG GGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTGTGG TATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGTGTG TTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGTGTG TAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTCG TGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTGGGG TGTGTGTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	338	0.0030	507	c.36 others(522): Show c.36-649_*36-648insTGTGGTGTGTGTGTGTATGTGGGGGTGTGG TGTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTG TGTGTAGTGTGTGGTATGTTTGGTGTGTGTTTGTGTATGTGGAGGTGTGG TGTGTTTGTGGTTGTGGTATGTGTATGTGGTGTGTATGTAGTGGGTGTGT GTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGTTT GTGGGTGTGGTATGTGTATGTGGTGTGTAGTGTGGGGTGTGTGTAGTGTG TGGTATGTTTGTGTGGTGTGTGTGTGTGTATGTGGGGGTGGGGGTGTGGT GTGTTCGTGGGTGTGGTATGTGTATGTGGTGTGTATGTAGTGTGGGGTGT GTGTAGTGTGTGGTATGTTTGGTGTGTGTGTATGTGGGGGTGGGGTGTGT TCGTGGGTGTGGTATGTGGTGTGTATGTAGTGTGGGGTGTGTGTAGTGTG GGGTGTGTGTTGTGTGTGGTATGTTTG	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGAGGGAG others(500): Show GGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0016 a0005c0005t0007g0016	1	271	0.0037	507	c.71 others(516): Show c.713_*714insGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19088.hp1 NA18954.hp2 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0003 a0001c0001t0001 a0004c0004t0003	a0001c0001t0001g0156 a0004c0004t0003g0127 a0001c0001t0001g0156 a0004c0004t0003g0127	2	246	0.0081	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTC TCCCCCTCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	246	0.0041	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCC CTCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCC CCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(500): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTC CCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0138 a0005c0005t0003g0138	1	246	0.0041	507	c.53- others(520): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCT CCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCC CCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCC CTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88501080	G G	GGGGCCCT others(500): Show GGGGCCCTCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGGTGC GTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGG TGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGG GTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGTGGGCCTG GGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTG TGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0062 a0005c0007t0062	a0005c0007t0062g0255 a0005c0007t0062g0255	1	318	0.0031	507	c.268 others(526): Show c.268+11930_268+11931insCCCTCCCGCCAGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCATCCCGCAGGTGCTGGTGATGATG GAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370839	C C	CATATATC others(500): Show CATATATCACACATATGATATACACATCATATATCACACATATGATATAC ACATCATATATCACACATATGATATACACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATACATATCACACATATCATATATATCATACATATCACACATA TCATATATATCATACATATCACACATATCATATATATCATACATATCACA CATATCATATATATCATACATATCACATATATCATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATATATCACATATATGATATATATATCATATATATCACATATATGATA TATATATCATATATATCACATATATGATATATATATCATATATATCACAT ATATGATATATATATCATATATATCACATATATGATATATATATCATATA TATCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0068 a0001c0001t0022g0068	1	350	0.0029	507	c.-36 others(518): Show c.-3633_-3632insATATATCACACATATGATATACACATCATATATC ACACATATGATATACACATCATATATCACACATATGATATACACATCATA TATCACACATATGATATACATCATATATCACACATATGATATACATCATA TATCACACATATGATATATATCATACATATCACACATATCATATATATCA TACATATCACACATATCATATATATCATACATATCACACATATCATATAT ATCATACATATCACACATATCATATATATCATACATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATATA TCATATATATCACATATATGATATATATATCATATATATCACATATATGA TATATATATCATATATATCACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3529		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(501): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0007 a0002c0012t0007	a0002c0012t0007g0010 a0002c0012t0007g0010	1	306	0.0033	508	c.130 others(527): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTT ATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(501): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATAT ACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGT ATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGT ATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGAT ATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACAT GTATCTGTA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	226	0.0044	508	c.132 others(527): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCT AGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATAT ACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGT ATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTAT CTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACAT ATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCT GTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(501): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA CATACACGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0080 a0001c0007t0080	a0001c0007t0080g0162 a0001c0007t0080g0162	1	169	0.0059	508	c.48- others(525): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACATACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	236	0.0042	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATACT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19078.hp1 HG00423.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0092 a0001c0001t0009g0119 a0001c0001t0002g0092 a0001c0001t0009g0119	2	236	0.0085	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTGTATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTATATA CAGAATATATATACTATATATATTCTGTATACAGAATATATATACTATAT ATTCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATA TATACTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	236	0.0042	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAGA ATATATATAGTATATATATTCTGTATACAGAATATATAGTATATATATTC TGTATACAGAATATATATAGTATATATATTCTGTATATAGAATATATATA GTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATAC AGAATATATATACTATATATTCTGTATACAGAATATATATACTATATATA TTCTGTATATAGAATATATATACTATATATATTCTGTATATAGAATATAT ATAGTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(501): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACAGAATATATATAGT ATATATATTCTATATACAGAATATATATAGTATATATATTCTATATACAG AATATATATACTATATATATTCTATATACAGAATATATATAGTATATATA TTCTATATACAGAATATATATAGTATATATATTCTGTATACAGAATATAT AGTATATATATTCTGTATACAGAATATATAGTATATATATTCTATATACA GAATATATATAGTATATATATTCTGTATACAGAATATATATACTATATAT ATTCTATATACAGAATATATATACTATATATATTCTATATATAGAATATA TATAGTATATATATTCTGTATATAGAATATATATAGTATATATATTCTGT ATATAGAATATATATAGTATATATATTCTGTATATAGAATATATATACTA TATTAATTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18945.hp2 NA19012.hp2 NA18943.hp2 NA18945.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0006g0236 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0006g0236	3	236	0.0127	508	c.409 others(527): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATACTA TATATATTCTATATACAGAATATATATACTATATATATTCTATATATAGA ATATATATAGTATATATATTCTGTATATAGAATATATATAGTATATATAT TCTGTATACAGAATATATATACTATATATATTCTGTATATAGAATATATA TACTATATATTCTGTATACAGAATATATATACTATATATTCTGTATACAG AATATATATACTATATATATTCTGTATATAGAATATATATACTATATATA TTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATATAT ATACTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTA TATAGAATATATATACTATATATATTCTGTATATAGAATATATATACTAT ATATATTCTGTATATAGAATATATATACTATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKAP17A_chrX_1586604_1607520	1596855	T T	TCCTCCTA others(501): Show TCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCTTCCTCCTCCATCCCTCCCACCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGA GGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGC CCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGT GTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACC CTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCT CCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCC CTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCAT CCCTCCCAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	151	0.0066	508	c.911 others(525): Show c.911+1354_911+1355insCCTCCATCCCTCCCACCCTCCTAGTGAG GTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTG GATTCCTCCTCTTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGAT TCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCCTAGTGAGGTGGATTCC TCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGCCCTCCTAGTG AGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGTGTCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCCTCCTAGTGA GGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTGTGC CCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGCCGT GTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCATCCCTCCCACC CTCCTAGTGAGGTGGATTCCTCCTCCTCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(501): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGGGAGGAGGAGGGGGGGGAGGAGGGGGGGGGAGGGGGGGA GGAGGAGGGGGGGAGGAGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGA GGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGG AGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGA GGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0166 a0001c0001t0017g0166	1	301	0.0033	508	c.125 others(529): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCC CCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCC TCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCC TCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTC TCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCC TCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ARHGAP19_chr10_97217179_97297637	97251398	G G	GGAAAGGA others(501): Show GGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGACGGGGAAGGGGAAG GGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAA GGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAA GAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGA GGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGG AAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGA GGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGA AAGGGGAAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	242	0.0041	508	c.927 others(525): Show c.927+4919_927+4920insATTCCCCTTTCCTTTCCCTCCCCCTTCC CCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCTCT TCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCCCTT CCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTT TCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCCCT TTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCT CCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCGTCTCC TCCCCTTCCCCTTCCCTTCCCCTTCCTTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(501): Show CCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCATCACCTG CTCCACCCTAACTCATTCCCACCACCTGCTCCACCCTAACTCATTCCTAT CACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTA ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTC ATTCCGATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTCCACCC TAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCCACCACCTGCT CCACCCTAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0022 a0022	a0022c0082 a0022c0082	a0022c0082t0001 a0022c0082t0001	a0022c0082t0001g0277 a0022c0082t0001g0277	1	300	0.0033	508	c.654 others(527): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTGGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTG GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGC AGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGG TGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATGGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(501): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAACA TAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATA TACGTATATACATATATAAATATATGTTGTATATACGTATATACTATATA TGTTGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02300.hp2 HG02027.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0199 a0001c0001t0008g0135 a0001c0001t0002g0199 a0001c0001t0008g0135	2	236	0.0085	508	c.676 others(525): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATAGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112873155	G G	GAACGGTG others(501): Show GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTG AGTGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGCTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTT TGTCTCCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(63): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01952.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02622.hp1 HG02735.hp1 HG03017.hp1 HG03017.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18973.hp1 NA18995.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19074.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0028 a0001c0040 a0002c0003 a0002c0025 a0003c0008 a0005c0032 a0006c0034	a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 others(28): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0030 a0001c0002t0032 a0001c0002t0034 a0001c0002t0039 a0001c0002t0057 a0001c0002t0059 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0005t0017 a0001c0005t0020 a0001c0005t0035 a0001c0005t0036 a0001c0005t0061 a0001c0005t0063 a0001c0005t0071 a0001c0028t0002 a0001c0040t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0009 a0002c0003t0033 a0002c0025t0002 a0003c0008t0005 a0005c0032t0001 a0006c0034t0031	a0001c0002t0001g0019 a0001c0002t0001g0091 a0001c0002t0001g0102 others(63): Show a0001c0002t0001g0019 a0001c0002t0001g0091 a0001c0002t0001g0102 a0001c0002t0001g0167 a0001c0002t0001g0180 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0088 a0001c0002t0002g0190 a0001c0002t0012g0026 a0001c0002t0012g0028 a0001c0002t0012g0252 a0001c0002t0030g0096 a0001c0002t0032g0179 a0001c0002t0034g0042 a0001c0002t0039g0212 a0001c0002t0057g0126 a0001c0002t0059g0201 a0001c0004t0001g0017 a0001c0004t0001g0106 a0001c0004t0001g0224 a0001c0004t0002g0208 a0001c0005t0001g0039 a0001c0005t0001g0086 a0001c0005t0001g0090 a0001c0005t0001g0223 a0001c0005t0002g0081 a0001c0005t0002g0094 a0001c0005t0002g0127 a0001c0005t0009g0174 a0001c0005t0017g0080 a0001c0005t0017g0099 a0001c0005t0020g0144 a0001c0005t0020g0247 a0001c0005t0035g0101 a0001c0005t0036g0172 a0001c0005t0061g0129 a0001c0005t0063g0173 a0001c0005t0071g0125 a0001c0028t0002g0136 a0001c0040t0001g0216 a0002c0003t0001g0040 a0002c0003t0001g0059 a0002c0003t0001g0137 a0002c0003t0001g0236 a0002c0003t0002g0027 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0089 a0002c0003t0002g0113 a0002c0003t0002g0118 a0002c0003t0002g0119 a0002c0003t0002g0183 a0002c0003t0002g0192 a0002c0003t0002g0238 a0002c0003t0002g0248 a0002c0003t0009g0143 a0002c0003t0009g0226 a0002c0003t0009g0232 a0002c0003t0009g0242 a0002c0003t0033g0031 a0002c0025t0002g0037 a0003c0008t0005g0249 a0005c0032t0001g0234 a0006c0034t0031g0075	66	254	0.2598	508	c.305 others(525): Show c.3058-417_3058-416insACGGTGTGAGGTGTGGCTTTGTCTTCCT GAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTG AGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTT TGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AATGGTGTGAGGTGTGGCTTTGTCTCCTTA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112873155	G G	GAACGGTG others(501): Show GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTG AGTGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGCTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTT TGTCTCCTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0191 a0001c0002t0012g0191	1	254	0.0039	508	c.305 others(525): Show c.3058-417_3058-416insACGGTGTGAGGTGTGGCTTTGTCTTCCT GAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTG AGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGATGTGGCTT TGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTTTGTCTTCCTG AGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTG AATGGTGTGAGGTGTGGCTTTGTCTCCTTA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BSND_chr1_54993933_55022172	55003060	G G	GAGATGCT others(501): Show GAGATGCTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGAT AATAGTGATGATGATAATAGTGATAATGATGGTGAGGATGGTGATGGTGA CAATGGTGATGATGATGATGATGATAGTGATGATGATGGTGATTAGGAGA TGGTGATGATGAGGATGGTGATGGTGAGAATGGTAATGGTGATGATAATA GTGATGATGATGGTGAGGATGGTGATGGTGAAGATGGTGATGATGAGATT GGTGATAGAATGGTGATGGTAATGACGATGTTGATGGTAATGAAGATGTC AATGATGGTGATGTGATGATAATGATGGTAACGGTTATGATGATGGTGAT GGTGATAATGATAATGGTGATGATGATGGTAATGGTCACGATGGTGATAG TGATGATGATAGTGGTGATAATGATGGTGATGTTGATAATTTTGGTGGTG ATAATAGTTATGGTGATGATTGATGGTAATGAGGATGAGGATGATGACGA TTATTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG01081.hp1 others(30): Show HG00438.hp2 HG00544.hp2 HG01081.hp1 HG01175.hp1 HG01361.hp1 HG02015.hp2 HG02280.hp1 HG03041.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18972.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19072.hp1 NA19078.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0060 a0001c0001t0062 a0001c0001t0194 a0001c0001t0197 a0001c0001t0198 a0001c0001t0199 a0001c0001t0204 a0001c0001t0205 a0001c0001t0209 a0001c0001t0210 a0001c0001t0212 a0001c0001t0224 a0001c0001t0226 a0001c0001t0250 a0001c0001t0255	a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0076 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0008g0012 a0001c0001t0009g0004 a0001c0001t0018g0004 a0001c0001t0060g0012 a0001c0001t0062g0004 a0001c0001t0194g0077 a0001c0001t0197g0012 a0001c0001t0198g0012 a0001c0001t0199g0004 a0001c0001t0204g0004 a0001c0001t0205g0004 a0001c0001t0209g0063 a0001c0001t0210g0012 a0001c0001t0212g0004 a0001c0001t0224g0004 a0001c0001t0226g0004 a0001c0001t0250g0044 a0001c0001t0255g0044	33	448	0.0737	508	c.178 others(525): Show c.178-1962_178-1961insAGATGCTGATGATGAGGATGGTGATGGT GAGAATGGTAATGGTGATGATAATAGTGATGATGATAATAGTGATAATGA TGGTGAGGATGGTGATGGTGACAATGGTGATGATGATGATGATGATAGTG ATGATGATGGTGATTAGGAGATGGTGATGATGAGGATGGTGATGGTGAGA ATGGTAATGGTGATGATAATAGTGATGATGATGGTGAGGATGGTGATGGT GAAGATGGTGATGATGAGATTGGTGATAGAATGGTGATGGTAATGACGAT GTTGATGGTAATGAAGATGTCAATGATGGTGATGTGATGATAATGATGGT AACGGTTATGATGATGGTGATGGTGATAATGATAATGGTGATGATGATGG TAATGGTCACGATGGTGATAGTGATGATGATAGTGGTGATAATGATGGTG ATGTTGATAATTTTGGTGGTGATAATAGTTATGGTGATGATTGATGGTAA TGAGGATGAGGATGATGACGATTATTATTA	BSND	ENSG00000162399.9	transcript	ENST00000651561.1	protein_coding	1/3			chr1	TogoVar
C7orf50_chr7_992006_1143247	1127635	A A	AGGCTGGA others(501): Show AGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGC TGGAGTGCAGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCGCCATCTCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGC ACGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGA TCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTC AGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCAGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATC CCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCTCAC CGTCACCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	326	0.0031	508	c.-1- others(521): Show c.-1-250_-1-249insCGGGTGACGGTGAGATGAGCCGAGATTGTGCC ACTGCACTCCAGCCCGGGTGACGGTGGGATGAGCCGAGATGGCGCCACTG CACTCCAGCCCGGGTGACGGTGGGATGAGCTGAGATCGCGCCACTGCACT CCAGCCCGGGTGACGGTGAGATGAGCTGAGATCGCGCCACTGCACTCCAG CCCGGGTGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCG GGTGACGGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTG ACAGGGTGGGATGAGCCGAGATGGCGCCACTGCACTCCAGCCCGGGTGAC GGTGGGATGAGCCGAGATCGTGCCACTGCACTCCAGCCCGGGTGACGGTG GGATGAGCCGAGATTGTGCCACTGCACTCCAGCCCGGGTGACGGTGGGAT CAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACGGTGAGATGAGC TGAGATCGCGCCACTGCACTCCAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(501): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCG	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0027 a0002c0108t0027	a0002c0108t0027g0104 a0002c0108t0027g0104	1	338	0.0030	508	c.300 others(525): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(501): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCGTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	142	0.0070	508	c.244 others(527): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(501): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTC CTTCCCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG00438.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0097 a0001c0001t0006g0018 a0001c0001t0001g0097 a0001c0001t0006g0018	2	142	0.0141	508	c.244 others(527): Show c.244+69496_244+69497insGGAGGGAAGGAAAGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAA AGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209242	T T	TTCCCTCC others(501): Show TTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCC TTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	142	0.0070	508	c.244 others(527): Show c.244+69443_244+69444insGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGA AGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAGGGAAGGAGGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar

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