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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Select column to sort.

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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
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(660): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCACCATCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCAC CACCACCATCACCACCACCATCACCATCACCATCACCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCATCATCACCATCACCACC AGCACCACCACCAACATCATCATCATCACCATCACCACCACCATCACCAC CACCACCACCATCAACACCACCATCACCACCACCATCATCATCACCACCA CCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0014 a0014	a0014c0059 a0014c0059	a0014c0059t0004 a0014c0059t0004	a0014c0059t0004g0025 a0014c0059t0004g0025	1	322	0.0031	667	c.48 others(678): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGATGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGGTGGT GATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGAGATGGTGG TGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGATGATGATGTTGATGGTGGTGGTGCTGGT GGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGA TGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGAGATGGTGGTGA TGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATG ATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(660): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTG CATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCC CCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCT CCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCC CCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATC TCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CGCACACCCCCACCCCCT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0078 a0003c0004t0016g0078	1	210	0.0048	667	c.147 others(684): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTG CACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCC ACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCAC CCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCC CTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACAC CCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACC CCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(660): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGCAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGA AGGAAGGAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGA AGGGGTGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGGAG AGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAA GGAAGGGGGGAGAGGAGGGAAGGAAGTGGGGAGAGGAGGGAAGGAAGGGG GGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGG GAAGGAAGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGT GGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGG AGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGGAGGAAGG AAGGAAGGAAGCAAGCAAGCAAGCAAAGCTGCTCAGAAACTAACTTCAGG AAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAG GAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGG AGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0025 a0002c0001t0025	a0002c0001t0025g0002 a0002c0001t0025g0002	1	62	0.0161	667	c.88+ others(686): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGTTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTTCCTCCTCTCCC CCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCACCTTCCT TTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCT CCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCC TTCCCTCCTCTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCC TCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCT TCCTTCCCTCCTCTCACCCCTTCCTTCCCTCCTCTCACCCCTTCCTTCCC TCCTCTCACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGT CTCTGCCCTTCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCCCTCCC TCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(660): Show TATATTATGGATAATATAATATAATATATTATATTATCGATAATATAATA TCTTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATGGATAATATATTATATTATGGATAATATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATAATATATTATATTATGGAT AATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02738.hp2 HG02055.hp2 HG02738.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0008 a0006c0012t0033 a0001c0001t0008 a0006c0012t0033	a0001c0001t0008g0032 a0006c0012t0033g0018 a0001c0001t0008g0032 a0006c0012t0033g0018	2	160	0.0125	667	c.389 others(688): Show c.389-154328_389-154327insATATATTATATTATCGATAATATA ATATCTTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATATTATGGATAATATATTATATTATGGATAATATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATAATATATTATATTATG GATAATATAATATAATATATCATATTATGGATAATATAATATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(660): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19009.hp2 NA19001.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0003g0133 a0001c0001t0001g0199 a0001c0001t0003g0133	2	308	0.0065	667	c.-75 others(686): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAAT ATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACT AAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGGAC others(660): Show AGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCAAGAGGGGGACAGGGCG GGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCGAGAGGGGGACAGG GCGAGAGGGGGACAGGGCGGGAGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGGACAGGGCGGCAGGGGGACAGGGCGGGAGGGGGACAGGGCGGG AGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	133	0.0075	667	c.351 others(686): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTGCCGCCCTGTCCCCCTCTCGCCCTGT CCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGT CCCCCTCTTGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(660): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0094 a0001c0001t0009g0094	1	133	0.0075	667	c.-37 others(678): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAAGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	1	203	0.0049	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCTTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	203	0.0049	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(660): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGA GGAGGCACAGGAGGAGGAGGAGGAAGCACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(25): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01256.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp2 HG02074.hp2 HG02129.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG03239.hp1 HG04115.hp2 NA18945.hp1 NA18947.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA19080.hp2 NA19088.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0004	a0000c0009 a0000c0042 a0001c0001 others(6): Show a0000c0009 a0000c0042 a0001c0001 a0001c0002 a0001c0005 a0001c0036 a0002c0003 a0002c0008 a0004c0039	a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 others(7): Show a0000c0009t0001 a0000c0009t0003 a0000c0042t0001 a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0036t0001 a0002c0003t0001 a0002c0008t0001 a0004c0039t0001	a0000c0009t0001g0152 a0000c0009t0001g0169 a0000c0009t0001g0172 others(25): Show a0000c0009t0001g0152 a0000c0009t0001g0169 a0000c0009t0001g0172 a0000c0009t0003g0171 a0000c0042t0001g0124 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0002t0001g0004 a0001c0002t0001g0125 a0001c0002t0001g0132 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0005t0001g0135 a0001c0005t0001g0160 a0001c0036t0001g0138 a0002c0003t0001g0020 a0002c0008t0001g0136 a0004c0039t0001g0137	28	203	0.1379	667	c.-12 others(686): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTG TCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTG TTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCC TGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACC TGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(660): Show CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0067 a0001c0001t0016g0067	1	150	0.0067	667	c.77- others(684): Show c.77-45377_77-45376insTCCCTCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTCCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(660): Show CCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCACCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0047	1	158	0.0063	667	c.22+ others(684): Show c.22+36334_22+36335insTCCCTCCCCTCCCCTCCCCTCCCCTACC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTCCCCTCCCCTCCCTCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTC CCCACCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401878	G G	GGCCCCGC others(660): Show GGCCCCGCTCACACCCCGGCCCCGCTCACACACCCGCCCCGCTCACACCC GGCCCCCGCTCACACCCGACCCGCTCCCACCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCCGGCCCGCCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCCCGCTCACCCCCGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACCACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACGACCACCGCCCCGC TCACACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCAGCCACCCCGCCCGC TCACCCCCGGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	242	0.0041	667	c.40 others(678): Show c.4017_*4018insGAGCGGGGCCGGGGGTGAGCGGGCGGGGTGGCTG GTGTGAGCGGGGCTGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGCGGTGGTCGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGTGAGCGGGG CCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCG GGTGTGAGCGGGGCCGGGTGGTGAGCGGGGCCGGGTGTGAGCGGGGCGGG TGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGGT GAGCGGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGGTGAGCGGGGGCGGGCCGGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGTGAGCGGGG CCGGGTGGGAGCGGGTCGGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCG GGTGTGTGAGCGGGGCCGGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3837		chr11	TogoVar
SLC19A1_chr21_45507565_45547440	45531241	A A	AGGGGGAG others(660): Show AGGGGGAGGTGGCGGGGAGCCTCCGGGGAAGGATCCACGGGGCAGGGGGA GGTGGCGGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGG GCGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAAGGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGGAGCCTCCGGGGGAAGG ATCCACGGGGCAGGGGGCGGGGGAGGGGGAGCCTCCGGGGGAAGGATCCA CGGGGCAGGGGGCGGGGAGGGGGAGCCTCCGGGGGGAAGGATCCACGGGG CAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGG GAGGTGGCGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTG GCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGG AGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	318	0.0031	667	c.949 others(682): Show c.949+147_949+148insCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCGT GGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCC TTCCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTCCC CCGGAGGCTCCCCCTCCCCCGCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCCTTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCG CCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCT CCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCGCCCACCTCCCCCT GCCCCGTGGATCCTTCCCCAGGAGGCTCCCCCGCCACCTCCCCCTGCCCC GTGGATCCTTCCCCGGAGGCTCCCCGCCACCTCCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAAGAGGGAAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	350	0.0029	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCT CCCCTCCTTCCTCTCCTCCTCCTCCCCTTCCCTCTTCTCTCCTCCTCCCC TCCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTC CTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTC CTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCTCCTCCTCCCCTCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(43): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00673.hp1 HG01243.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18944.hp1 NA18947.hp2 NA18969.hp2 NA18999.hp1 NA19004.hp2 NA19056.hp2 NA19066.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0013	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0007c0012 a0013c0016	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0007c0012t0001 a0013c0016t0001	a0001c0001t0001g0073 a0001c0001t0001g0120 a0001c0001t0001g0121 others(37): Show a0001c0001t0001g0073 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0218 a0001c0001t0001g0245 a0002c0003t0001g0003 a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0037 a0002c0003t0001g0054 a0002c0003t0001g0056 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0291 a0003c0004t0001g0296 a0007c0012t0001g0116 a0013c0016t0001g0177	46	350	0.1314	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(660): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGA AGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG04228.hp1 HG02451.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0117 a0001c0001t0001g0091 a0001c0001t0002g0117	2	350	0.0057	667	c.624 others(682): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(660): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATATTATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATAATATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAATATAAATAT ATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA20300.hp2 HG03669.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0193 a0001c0001t0003g0174 a0001c0001t0003g0193	2	346	0.0058	667	c.-70 others(684): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATATTATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATATATTATATATTATATATAATATATTTATATTTATATAA TATATAATATATTTATATTTATATATAATATATATAATATATTTATATTT ATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATAT ATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(660): Show GAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGGGAGAGGGAGGGAGGGAGAGGGA GGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGG GAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGAGGCA GGGAGGGAGGGAGAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGA GAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGG GGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGAGGGAGGGA GAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGGGAGGGAGA GAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19060.hp1 NA19005.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0012 a0001c0003 a0002c0012	a0001c0003t0032 a0002c0012t0031 a0001c0003t0032 a0002c0012t0031	a0001c0003t0032g0026 a0002c0012t0031g0077 a0001c0003t0032g0026 a0002c0012t0031g0077	2	132	0.0152	667	c.227 others(686): Show c.2271-2055_2271-2054insTCTCTCCCTTCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTGCCTCCCCCTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCTCTCCCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC TCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(660): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGAGGAGGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGA GGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	667	c.12 others(678): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCTCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCC CTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCC TCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCC CCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(660): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGA GGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	667	c.12 others(678): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCC CTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCC TCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCT CCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCT CCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCC TCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCC CCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCC TCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCC CCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19003.hp2 NA18986.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0060 a0001c0001t0001g0071	2	444	0.0045	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGT AGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGA TTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACC ACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTT GGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCGCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	444	0.0023	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGCGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(660): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCT CCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCT CAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTG GCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCAC CTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATA ATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	444	0.0023	667	c.188 others(684): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCAACATGGTGAA ACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGCG CCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACC CGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGCC TGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGAAAAAGTTC GAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTTTG CTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGCAA CCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SRSF9_chr12_120456672_120474748	120467999	C C	CAGAAGAA others(660): Show CAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAGCGGAGACA GTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAA AAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTCTCTTTTTT TTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGTAGTGGCG CCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCCT GCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACCACGCCCA GCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGG ATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCCTAAAG TGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTCAATATC CTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGGCTCACG CCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACCTCAGGT CGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTATAATCCCAG CTACTCAGGACGCTGAAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	444	0.0023	667	c.188 others(684): Show c.188+1422_188+1423insCTTCAGCGTCCTGAGTAGCTGGGATTAT AGGCATGCGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTG ATCCGCCCGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCAC CTCACCCGGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGG ATTTAGAGTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGG CCGAGGCGGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAAC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGT GGCGCGCGCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCT CTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACA TCCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAGA AAAAGTTCGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACG GAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCT CACTGCAACCTCGGCCTCCCAGGTTCAATCGATTCTTCT	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(660): Show GATTATAAAATATAATTATATATAATATATGATTATAAAATATAATTATA TATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATTATATATGATTATAAAAT ATAATTATATATTATATATGATTATAAAATATAATTATATATGATTATAA AATATAATTATATATTATATATGATTATAAAATATAATTATATATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	268	0.0037	667	c.75 others(678): Show c.7501_*7502insATTATAAAATATAATTATATATAATATATGATTA TAAAATATAATTATATATTATATATGATTATAAAATATAATTATATATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATTAT ATATGATTATAAAATATAATTATATATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATTATATATGATTATAAAATAT AATTATATATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTA TATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATA TGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
TGS1_chr8_55768446_55831445	55821296	T T	TGGAGGTG others(660): Show TGGAGGTGGGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTCAATTCTTTTTTTTTTTTTTTTTATTGATCAT TCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAG TGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCC TAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGGGTACTT AAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTCAAGCAT CTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAACCCTGAG TGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGGTCACAG ATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATG AAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACCATCCGA TTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAAAACCGC CATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCTCCCAGA CGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC CGGCAGAAGTGCCCCTCA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	370	0.0027	667	c.244 others(686): Show c.2440-3268_2440-3267insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTCAATTCTTTTTTTTTTTTTTTTTATT GATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGA CAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGG TTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGCGTTTGTGTCCCTGG GTACTTAAGATTAGGGAGTGGTGATGACTCTCAACGAGCATGCTGCCCTC AAGCATCTGTTCAACAAAGCACATCTTGCACCGCCCTTAATCCATCTAAC CCTGAGTGGACACAGCACATGTCTCAGAGAGCACAGGGTTGGGGATAAGG TCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAAC AAAATGAAAAGTCTCCCATGTCTACTTCTATCCACACAGACCCAGCAACC ATCCGATTTCTCAATTTTTTCCCCACCCTTCCCGCCTTTCTATTCCACAA AACCGCCATTGTCATCATGGCCCATCCCCAATGAGCCGCTGGGCACACCT CCCAGACGGGGTCGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCCGGCAGAAGTGCCCCTCAGGAGGTGGGGATTTCTT	TGS1	ENSG00000137574.11	transcript	ENST00000260129.6	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(660): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTC CCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	667	c.22 others(678): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(660): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTTCTCTCTCTCTCTGTCTCTCTCTG TCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCCTCC TCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGGTCTCTCTCTCTGTCTCTC TCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTC TGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0003 a0001c0001t0021g0003	1	256	0.0039	667	c.924 others(684): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGA GAGAGAGACCAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGGAGGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAG AGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAG AGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAG AGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAG AGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAG ACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAG AGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAG AGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(660): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCC TCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0002 a0017c0018t0002	a0017c0018t0002g0001 a0017c0018t0002g0001	1	114	0.0088	667	c.-25 others(686): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCT CCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCC TCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCC CCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(660): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCC CCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCC TTCCCCCCTCTGCCCTCCCCTATCCCTCCTCTGCCCTCCCCTCTCCCCTC CCCTCCCCCCCTCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCTCTCCCCTCT CCCCTACCCTCTCCCCTCCCTCTCCCTCTCCCCTCCCCTCCCCTCTCCCC TCTCCCATCCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCCCTCCCCC TCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCTCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC TCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCTCCCCCCCTCCCCTCC CCCCCTCCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCCTC CCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0002 a0019c0022t0002	a0019c0022t0002g0106 a0019c0022t0002g0106	1	114	0.0088	667	c.-25 others(686): Show c.-25-12098_-25-12097insTCCCCTCTCCCCTCCCCTTCCCTCCC CTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCCT TCCCCCCTCTGCCCTCCCCTATCCCTCCTCTGCCCTCCCCTCTCCCCTCC CCTCCCCCCCTCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCTCTCCCCTCTC CCCTACCCTCTCCCCTCCCTCTCCCTCTCCCCTCCCCTCCCCTCTCCCCT CTCCCATCCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCCCTCCCCCT CCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCTCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCT CCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCACCTCCCCTCCCCCCCTCCCCTCCC CCCCTCCCCTCCCCTCCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCCTCC CCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(660): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACAGGCACGCCAC ACACAGGCACGCCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACGCACGCCACACACAGGCACGCCACACACGCACGCCACACACA CGCACGCCACACACACACGCACGCCACACACACACGCACGCCACAAACGC ACGCCACACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCAC ACACGAACGCCACACAAACGCCACACACACGAATGCCACACGCACACCAC ACACGCACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATG CCACACACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACA CAGGCATGCCAAACACGCACGCCACACATGCATGCCACACACACAGGCAC ACCACACACAGGCACGCCACACACACAGGCACGCCACACACATGCACGCC ACACACGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	430	0.0023	667	c.961 others(682): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTG GCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTG TGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGT GTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGT GCGTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTG TGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273397	A A	AAAATTAT others(660): Show AAAATTATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATATAAAAATTATATATATATTATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATATAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0000 a0000	a0000c0014 a0000c0014	a0000c0014t0009 a0000c0014t0009	a0000c0014t0009g0058 a0000c0014t0009g0058	1	272	0.0037	667	c.29 others(678): Show c.2962_*2963insAAATTATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATTATATA TATATAAAAATTATATATATATTATATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATAAAAATTATATATATATTATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATATAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2284		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370245	G G	GTATGTGT others(660): Show GTATGTGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGT GTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTATGTGTGTGTAT GTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGT GTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGT GTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTAT GTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGT TCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTG TATGTGTGTGTATATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTA TGTGTGTATGTGTGTGTATACGTGTGTATATGTGTGTGTGTATATGTGCG TGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTA TGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTCTGTGTATATGTGTG TGTATATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00597.hp2 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0397 a0001c0002t0005g0398 a0001c0002t0005g0397 a0001c0002t0005g0398	2	468	0.0043	667	c.-6- others(682): Show c.-6-3466_-6-3465insTGTGTGTGTGTGTATATGTGTGTGTATGTG TGTGTGTATATGCGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGCG TGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTG TGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTA TGTGTGTGTGTATGTGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTA TATGCGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTG TGTATATGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGT GTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGCGTGT ATATGTGTGTGTGTATGTGTGTATGTGTGTGTATACGTGTGTATATGTGT GTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGT GTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGT CTGTGTATATGTGTGTGTATATGTGTGTGTGTATATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(660): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02135.hp2 others(3): Show HG01123.hp2 HG01192.hp1 HG02135.hp2 HG04115.hp2 HG04204.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0118 a0001c0001t0002g0085 a0001c0001t0005g0008 others(3): Show a0001c0001t0001g0118 a0001c0001t0002g0085 a0001c0001t0005g0008 a0001c0001t0011g0045 a0001c0001t0013g0084 a0001c0001t0013g0124	6	250	0.0240	667	c.82+ others(682): Show c.82+5644_82+5645insTATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATAT TTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(660): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	326	0.0031	667	c.483 others(682): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(660): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAATAT ATATTATAACTATATTAAATATATAAATTATATAATATATATTATATATT GTATATTATATAATTTATATAATATATTATATGTTATATAATATATATTA TATATTGTATATATTATATTATATATTATATATTTTATATATCATATATA GTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATATT TTTATATATTATATATAATATATATAATTATATATCATATATATTTATAT AATATATGATATATAATATATAATATATATTATGTATTATATAATTATAT AAAATATATCATATATATTATAAATAATATATTATATATATTATATATTA TAAATAATATATTATATATATTATATATTATAAATAATATATTATATATA TTATATATTATAAATAATATATTATATATATTATATATTATAAATAATAT ATTATATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATAAATAATAT ATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0177 a0001c0001t0098g0177	1	302	0.0033	667	c.-1- others(684): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAATATATATTATAACTATATTAAATATATAAATTATATA ATATATATTATATATTGTATATTATATAATTTATATAATATATTATATGT TATATAATATATATTATATATTGTATATATTATATTATATATTATATATT TTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTATA TAGTATACTATATATTTTTATATATTATATATAATATATATAATTATATA TCATATATATTTATATAATATATGATATATAATATATAATATATATTATG TATTATATAATTATATAAAATATATCATATATATTATAAATAATATATTA TATATATTATATATTATAAATAATATATTATATATATTATATATTATAAA TAATATATTATATATATTATATATTATAAATAATATATTATATATATTAT ATATTATAAATAATATATTATATATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(660): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGG AGGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGG AGGGAAGGGGAGGGAGGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGA AGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGA GGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGA GGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGG GAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGG AGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGA AAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0129 a0001c0005t0002g0129	1	290	0.0035	667	c.205 others(686): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCC CTTCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCC TCGCTCCCCTCACTTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCC TCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCC TCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTC CCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCC TCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCT CACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCA CTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(660): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02698.hp2 HG02965.hp1 others(3): Show HG01891.hp2 HG02698.hp2 HG02965.hp1 HG03516.hp2 HG03942.hp1 NA19043.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0003 a0006c0006 a0009c0010 a0003c0003 a0006c0006 a0009c0010	a0003c0003t0002 a0006c0006t0006 a0009c0010t0006 a0003c0003t0002 a0006c0006t0006 a0009c0010t0006	a0003c0003t0002g0001 a0003c0003t0002g0012 a0006c0006t0006g0109 others(1): Show a0003c0003t0002g0001 a0003c0003t0002g0012 a0006c0006t0006g0109 a0009c0010t0006g0142	6	412	0.0146	667	c.-42 others(678): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF652_chr17_49284206_49367250	49304055	A A	ATTTTTTT others(660): Show ATTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGCAGGGTTTCACT GTATTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATTCGCCCACCTC AGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCAT GTAGTTTGTTTTCTAAATTAAATATGATTTACTTGTACAATAAAATACTT TAAAAGCACATGTTTGATTAACCTCTAAGCTCCCCTGCTCTGTGACTTCA GAGTTAGTATTCTTCACACCTAGCAGCCATATGGAAACACAGCCAAAGGC CCTAATCTTTGAATTTTAGTCTAGTATGAGCAAATCCTCTCCACATTATT TACTAATCACTTCTTAGGCACACTAGACACTACTCACAGACAGAATGGAT TCCCTGAGCAGTTACTGAATGTATGGATGTTTAGGTTTTTTATGTGCTCA AATCCCCTTCCTGGACCTCTCTAATCATCTCTCATTTGCAGTCTTCTTTT TTTTTGTTTTTTCCTGAGACACAGTCTCGCTCAGTCACCCAGGCCGGAGT GCAGTGGTGTGATCTCAGCTCACTGCAAGCTCCACCTCTCAGGTTCATGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCATGCCTGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02895.hp2 others(3): Show HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0039 a0001c0001t0056 others(1): Show a0001c0001t0033 a0001c0001t0039 a0001c0001t0056 a0001c0001t0057	a0001c0001t0033g0006 a0001c0001t0033g0007 a0001c0001t0039g0035 others(3): Show a0001c0001t0033g0006 a0001c0001t0033g0007 a0001c0001t0039g0035 a0001c0001t0039g0036 a0001c0001t0056g0005 a0001c0001t0057g0004	6	382	0.0157	667	c.131 others(686): Show c.1310-5132_1310-5131insAAAATTAGCCAGGCATGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAAC CTGAGAGGTGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGC CTGGGTGACTGAGCGAGACTGTGTCTCAGGAAAAAACAAAAAAAAAGAAG ACTGCAAATGAGAGATGATTAGAGAGGTCCAGGAAGGGGATTTGAGCACA TAAAAAACCTAAACATCCATACATTCAGTAACTGCTCAGGGAATCCATTC TGTCTGTGAGTAGTGTCTAGTGTGCCTAAGAAGTGATTAGTAAATAATGT GGAGAGGATTTGCTCATACTAGACTAAAATTCAAAGATTAGGGCCTTTGG CTGTGTTTCCATATGGCTGCTAGGTGTGAAGAATACTAACTCTGAAGTCA CAGAGCAGGGGAGCTTAGAGGTTAATCAAACATGTGCTTTTAAAGTATTT TATTGTACAAGTAAATCATATTTAATTTAGAAAACAAACTACATGGCCAG GCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGG CGAATCATGAGGTCAGGAGATTGAGACCATCCTGGCTAATACAGTGAAAC CCTGCCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAA	ZNF652	ENSG00000198740.9	transcript	ENST00000430262.3	protein_coding	5/5			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(661): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCAC CCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCA ACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACAT CACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18971.hp2 NA18999.hp2 others(1): Show NA18940.hp1 NA18971.hp2 NA18999.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 others(1): Show a0001c0001t0002g0088 a0001c0001t0004g0290 a0001c0001t0005g0291 a0001c0001t0015g0292	4	337	0.0119	668	c.61+ others(683): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGG TGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGT GTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCG GGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGG TGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAG GTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTC GGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTG GGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGG GTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173269	A A	ACATCACC others(661): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACC CCCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACA TCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTC ACCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATC ACCTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCA GTCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCC CACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACAT CACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18980.hp2 NA19056.hp1 others(1): Show NA18944.hp2 NA18980.hp2 NA19056.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0021 a0001c0001t0005 a0001c0001t0010 a0001c0001t0021	a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0010g0274 others(1): Show a0001c0001t0005g0271 a0001c0001t0005g0273 a0001c0001t0010g0274 a0001c0001t0021g0272	4	337	0.0119	668	c.61+ others(683): Show c.61+6397_61+6398insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGG GGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGG GGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGG GGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGG GGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGG GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCCGTG others(661): Show CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTT CCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAG CACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGT GACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18947.hp1 NA18941.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	246	0.0081	668	c.-16 others(679): Show c.-1625_-1624insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAA ATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(661): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCC CGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGT GACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCAC CCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACAT TTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0187 a0001c0001t0005g0188	2	246	0.0081	668	c.-16 others(679): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79327856	A A	ATGGATAG others(661): Show ATGGATAGTGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGGTAGCGTGCT CTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCG TGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTT AGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTGT GGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGATAGTGTGCTCT CTGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTG CCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAG CGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCCGTGG TTAACGTGCCCTCCGTGGTTAGCGTGCCCTCCGTGGTTAGTGTGCCCTCC CTGGTTAGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGTTTAGCGTGCT CTCCGTGGTTAGCGTGCTCTCCGTGGTTAGTGTGCTCTCTCCATGGTTAG CGTGCTCGCCGTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAACGTGCTCTCTGTGGTTAGTGTGCTCTCCGTGGTTAGCGTGTTCTCC GTGGTTAGTGTGTTCTCCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0008 a0013 a0008 a0013	a0008c0030 a0013c0023 a0008c0030 a0013c0023	a0008c0030t0001 a0013c0023t0001 a0008c0030t0001 a0013c0023t0001	a0008c0030t0001g0254 a0013c0023t0001g0042 a0008c0030t0001g0254 a0013c0023t0001g0042	2	298	0.0067	668	c.177 others(687): Show c.1774-1282_1774-1281insATAGTGTGCTCTCCGTGGTTAGCGTG CTCTCCGTGGGTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAG CGTGCTCTCTCTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGG TTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTCTGGTTAGCGTGCTCTCC GTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCTCTCTGTGGTTAGCGTGCT CTCCGTGGATAGTGTGCTCTCTGTGGTTAGCGTGCTCTCCGTGGTTAGCG TGCCCTCCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTT AGCGTGCTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGT GGTTAACGTGCTCTCCGTGGTTAACGTGCCCTCCGTGGTTAGCGTGCCCT CCGTGGTTAGTGTGCCCTCCCTGGTTAGCGTGCTCTCCGTGTTTAGCGTG CTCTCCGTGTTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAG TGTGCTCTCTCCATGGTTAGCGTGCTCGCCGTGGTTAGCGTGCTCTCCGT GGTTAGCGTGCTCTCCGTGGTTAACGTGCTCTCTGTGGTTAGTGTGCTCT CCGTGGTTAGCGTGTTCTCCGTGGTTAGTGTGTTCTCCGTGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(661): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTG AGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCA GGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0217 a0001c0031t0001g0217	1	338	0.0030	668	c.300 others(685): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGC GGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGG GGCGGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCG GGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182074	A A	ACACACAC others(661): Show ACACACACACACTCACATACAGACACAACCACACCACACACACACACACA CTCACATACAGACACAACCACACCACACTCACACATACACACTCACATAC AGACACAACCACACCACACACACACACACACTCACATACAGACACAACCA CACCACACACACACACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACATAC ACACTCACATAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACTCACATACAGACACAAC CACACCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACACAACCACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0428 a0008c0008t0002g0428	1	460	0.0022	668	c.193 others(685): Show c.1938+765_1938+766insTCACATACAGACACAACCACACCACACA CACACACACACTCACATACAGACACAACCACACCACACTCACACATACAC ACTCACATACAGACACAACCACACCACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACACTCACATACAGACACAACCAC ACCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACATACACACTCACATAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACACAACCACACCACACACACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(661): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCC GGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCACCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0050 a0014c0021t0050	a0014c0021t0050g0005 a0014c0021t0050g0005	1	324	0.0031	668	c.110 others(685): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGC ATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(661): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACTGCAATACACACACCA CACATACACCCCAACACACACACACACACATACAGACACCAATACATACA CCATGCATATACCCCAACACACACACACCCCCAATACACTCACAACACAT ACACCCCAACACACACACACCCCCAATACACACACCACACATATACCCCA ACACACACACACACACACCCAATACACACACCACACATATACCCCAACAC ACACACACCAATACATGCACCAACACATATACCCCAACATACACACACAC CCCCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGC AATGCATTACCCCAACATACACACACAGACACACACACAATACACACACC AATACACACCAATGCATATACCCCAACATACACACATATAGCAACATACA CCCTAACACACATACATACACATACACACACCAAATAGACACACACCCCA ACACACACAACCAACACCCCCACACACCCAACACACACACATACACGTAC ACACACATCAACACATAACTATGCACCCCAACACACACACACACACAACA TACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG01081.hp2 others(12): Show HG00408.hp2 HG00642.hp2 HG01081.hp2 HG02132.hp2 HG02148.hp1 HG02280.hp2 HG02647.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp1 HG04184.hp2 NA18964.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(11): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0031 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0016 a0001c0002t0036	a0001c0001t0003g0103 a0001c0001t0003g0155 a0001c0001t0008g0136 others(12): Show a0001c0001t0003g0103 a0001c0001t0003g0155 a0001c0001t0008g0136 a0001c0001t0009g0010 a0001c0001t0014g0035 a0001c0001t0031g0034 a0001c0002t0002g0166 a0001c0002t0003g0073 a0001c0002t0005g0068 a0001c0002t0008g0119 a0001c0002t0010g0060 a0001c0002t0012g0047 a0001c0002t0013g0009 a0001c0002t0016g0092 a0001c0002t0036g0150	15	184	0.0815	668	c.449 others(685): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTGTA TGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTGTG TGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGTTG CTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGTGT ATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGTAT GTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTGTG TATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGGGG TATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTATA TGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTTGT GAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGTAT TGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTGTG TATTGCAGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGTGC ATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(661): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACTGCAATACACACACCACA CATACACCCCAACACACACACACACACATACAGACACCAATACATACACC ATGCATATACCCCAACACACACACACCCCCAATACACTCACAACACATAC ACCCCAACACACACACACCCCCAATACACACACCACACATATACCCCAAC ACACACACACACACACCCAATACACACACCACACATATACCCCAACACAC ACACACCAATACATGCACCAACACATATACCCCAACATACACACACACCC CCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGCAA TGCATTACCCCAACATACACACACAGACACACACACAATACACACACCAA TACACACCAATGCATATACCCCAACATACACACATATAGCAACATACACC CTAACACACATACATACACATACACACACCAAATAGACACACACCCCAAC ACACACAACCAACACCCCCACACACCCAACACACACACATACACGTACAC ACACATCAACACATAACTATGCACCCCAACACACACACACACACACAACA TACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00741.hp1 others(14): Show HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp2 HG01192.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG02074.hp2 HG02109.hp2 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0010 a0001c0002t0011 a0001c0002t0022	a0001c0001t0001g0158 a0001c0001t0004g0024 a0001c0001t0004g0025 others(14): Show a0001c0001t0001g0158 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0005g0105 a0001c0001t0005g0140 a0001c0001t0009g0018 a0001c0001t0020g0057 a0001c0002t0001g0054 a0001c0002t0001g0076 a0001c0002t0001g0098 a0001c0002t0001g0134 a0001c0002t0001g0147 a0001c0002t0003g0064 a0001c0002t0004g0038 a0001c0002t0010g0063 a0001c0002t0011g0135 a0001c0002t0022g0156	17	184	0.0924	668	c.449 others(685): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGTGC ATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar

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Search Results (Total: 10000 hits)