Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(631): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	362	0.0028	638	c.391 others(653): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(631): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	362	0.0028	638	c.391 others(653): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAGGTT others(631): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGGAGCTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGGTAGGGGT TAGGGAGGTTGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGGAAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTT AGATGAGGTTAGGGATGTTATGGAAGGTTAGGGAGGTTACGGTAGGTTAA TGGAGGTTAGGGAGTAAGGTTATGGAGGTTATGGGAGGTTAGGGAGGTTA GGGAGTTAGAGTTAGGGAGGTTAGGGAGTAGGTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGGTTAGGGAGGTTATGAGAGTTATGGAGGTTAGG GAGGTCTATGAAGGTTAGGGAGGTTAGACGGAAGGTTAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0144 a0008c0011t0001g0144	1	274	0.0037	638	c.224 others(657): Show c.2242-5374_2242-5373insATAACCTTCCGTCTAACCTCCCTAAC CTTCATAGACCTCCCTAACCTCCATAACTCTCATAACCTCCCTAACCCTC CATAACCTCCCTAACCTCCCTAACCTCCATACCTACTCCCTAACCTCCCT AACTCTAACTCCCTAACCTCCCTAACCTCCCATAACCTCCATAACCTTAC TCCCTAACCTCCATTAACCTACCGTAACCTCCCTAACCTTCCATAACATC CCTAACCTCATCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTA ACCTTCCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACC TCCAACCTCCCTAACCCCTACCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGC TCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCCTAACCTCCCTAACC TCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(631): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATGTATATAAATATATATATTTAAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAAT ATAAGTATGTATAAATATATATTTAAATATAAGTAGTATATATAAAAAAT ATATATATTTTAAATATAAGTATATATAAAAATATATATATTTAAATATA AGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAATATATAT ATTTAAATATAAGTATATATAAAAATATATATTAAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0166 a0001c0001t0006g0166	1	326	0.0031	638	c.358 others(655): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATGTATATAAATATATATATTTAAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAAAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATGTATAAATATATATTTAAATATAAGTAGT ATATATAAAAAATATATATATTTTAAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATTAAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATAAAA ATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(631): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTGTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCT TCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCC TCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCC CTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTC CTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	104	0.0096	638	c.153 others(655): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGACAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAA GGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGG GGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGA GGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGG AGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGG GAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAG GGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NTM_chr11_131365615_132341822	131681036	T T	TGTGTGTT others(631): Show TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTC CCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTG TGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTA TGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCG TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTT TCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATG TCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTG TGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTATCCCTGTTTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTG TGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02922.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 a0001c0001t0004g0005 a0001c0001t0004g0029 a0001c0001t0007g0021 a0001c0001t0009g0050	7	86	0.0814	638	c.83- others(657): Show c.83-230495_83-230494insTGTGAGCGTGTGTGTTTCTGTGTCTG TGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTC CCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTG TGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTATGTGAGCTTG TTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTC TGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCC TGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTG TGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCA TGTGTGTTTCTGTGTCTGTATGTATCCCTGTTTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTTCTGTGTCTGTATG TCTCCCTGTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131681036	T T	TGTGTGTT others(631): Show TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTC CCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTG TGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTA TGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCG TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTT TCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATG TCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTG TGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTG TGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	86	0.0116	638	c.83- others(657): Show c.83-230495_83-230494insTGTGAGCGTGTGTGTTTCTGTGTCTG TGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTC CCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTG TGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTATGTGAGCTTG TTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTC TGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCC TGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTG TGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCA TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTTCTGTGTCTGTATG TCTCCCTGTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGCT others(631): Show GGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0022 a0001c0003t0008g0022	1	242	0.0041	638	c.360 others(657): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCCGCCCA others(631): Show CCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18947.hp2 HG03491.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0137 a0001c0001t0001g0047 a0001c0001t0001g0137	2	237	0.0084	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19067.hp1 NA19086.hp1 NA18956.hp1 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0057 a0001c0001t0001g0096 a0001c0001t0001g0102	3	237	0.0127	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp1 NA18943.hp1 others(2): Show HG01361.hp2 HG02683.hp1 NA18943.hp1 NA18980.hp2 NA18991.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0014 a0003c0007t0001 a0001c0001t0001 a0001c0001t0014 a0003c0007t0001	a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0014g0086 a0003c0007t0001g0091	5	237	0.0211	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGTCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGACCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	237	0.0042	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(631): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0058 a0001c0006t0001g0058	1	216	0.0046	638	c.106 others(655): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(631): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATGTGTATATATATATATGTATATATATATATATTATATATG CATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATT CTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATC CATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	320	0.0031	638	c.98- others(653): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TGTGTATATATATATATGTATATATATATATATTATATATGCATATTATG TTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGAC CCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGG AACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCACTG TCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181336	A A	AGTCTTAC others(631): Show AGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTACGG TCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGC AGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTAC ACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCAT GGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTAC ACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACAC ACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACAC ATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGC GCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACAC ACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTAC ACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGCCTT ACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTC TTACGGTCTTACACACGCAGTCTTATGGTCTTACACACG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	210	0.0048	638	c.38- others(653): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAGTC TTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACACAA GCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGGTC TTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACACGG TCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACATGC AGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGCAG TCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGG TCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACACAT GCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGCCTTACAC ACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTAC GGTCTTACACACGCAGTCTTATGGTCTTACACACGGTCTTACACACGGTC TTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133882	T T	TCTCTCTC others(631): Show TCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCTCC ACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	227	0.0044	638	c.24 others(649): Show c.2450_*2451insCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCT CTCCCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2170		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGT GATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0065 a0004c0006t0001g0065	1	374	0.0027	638	c.-46 others(649): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGGTGGTG ATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGG GGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAA TGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	467524	G G	GCGTCAGG others(631): Show GCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC AGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTG GGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGA GGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp2 HG00323.hp2 HG02145.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0006c0010 a0001c0002 a0006c0010	a0001c0002t0009 a0006c0010t0005 a0001c0002t0009 a0006c0010t0005	a0001c0002t0009g0081 a0006c0010t0005g0080 a0001c0002t0009g0081 a0006c0010t0005g0080	2	295	0.0068	638	c.809 others(655): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(631): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGG GAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGG AGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	318	0.0031	638	c.36 others(649): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAG GAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGG AGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(631): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	276	0.0036	638	c.132 others(655): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTATAAAT others(631): Show TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	332	0.0030	638	c.632 others(655): Show c.632+8246_632+8247insAAATACTGTATTTATTTATAAATACTGT ATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTAT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20129.hp1 HG03486.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0275 a0003c0003t0001g0415 a0003c0003t0001g0275 a0003c0003t0001g0415	2	454	0.0044	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 NA18945.hp1 others(7): Show HG01884.hp2 HG02965.hp1 NA18945.hp1 NA18947.hp1 NA18963.hp2 NA18980.hp2 NA18983.hp1 NA18990.hp2 NA19001.hp1 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0004c0012 a0006c0005	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0004c0012t0003 a0006c0005t0003	a0001c0001t0001g0241 a0001c0001t0001g0320 a0001c0001t0001g0344 others(7): Show a0001c0001t0001g0241 a0001c0001t0001g0320 a0001c0001t0001g0344 a0001c0001t0001g0408 a0001c0006t0001g0101 a0002c0002t0001g0337 a0002c0002t0002g0028 a0002c0002t0010g0090 a0004c0012t0003g0345 a0006c0005t0003g0140	10	454	0.0220	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0242 a0003c0003t0001g0242	1	454	0.0022	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02895.hp1 others(7): Show HG02280.hp2 HG02630.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0011 a0003c0003 others(1): Show a0001c0001 a0002c0011 a0003c0003 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0002c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0011t0001 a0003c0003t0001 a0004c0009t0008	a0001c0001t0001g0020 a0001c0001t0001g0348 a0001c0001t0001g0360 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0348 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0005g0011 a0002c0011t0001g0119 a0003c0003t0001g0235 a0004c0009t0008g0326	10	454	0.0220	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0338 a0004c0009t0003g0338	1	454	0.0022	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0011 a0013 a0015 a0018	a0001c0001 a0001c0004 a0001c0006 others(11): Show a0001c0001 a0001c0004 a0001c0006 a0002c0002 a0002c0011 a0003c0018 a0004c0014 a0006c0005 a0007c0008 a0009c0017 a0011c0021 a0013c0022 a0015c0019 a0018c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0004t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0018 a0002c0011t0001 a0003c0018t0001 a0004c0014t0003 a0006c0005t0003 a0007c0008t0001 a0009c0017t0001 a0011c0021t0001 a0013c0022t0001 a0015c0019t0001 a0018c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(162): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0130 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0376 a0001c0001t0001g0382 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0391 a0001c0001t0001g0394 a0001c0001t0001g0400 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0003g0226 a0001c0001t0004g0414 a0001c0001t0005g0135 a0001c0001t0016g0198 a0001c0004t0001g0206 a0001c0004t0001g0208 a0001c0004t0001g0209 a0001c0004t0001g0239 a0001c0004t0001g0274 a0001c0004t0001g0416 a0001c0004t0001g0417 a0001c0006t0001g0109 a0001c0006t0001g0118 a0001c0006t0001g0122 a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0100 a0002c0002t0001g0147 a0002c0002t0001g0156 a0002c0002t0001g0166 a0002c0002t0001g0168 a0002c0002t0001g0210 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0266 a0002c0002t0001g0285 a0002c0002t0001g0290 a0002c0002t0001g0295 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0314 a0002c0002t0001g0321 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0343 a0002c0002t0001g0369 a0002c0002t0001g0377 a0002c0002t0001g0392 a0002c0002t0001g0398 a0002c0002t0001g0399 a0002c0002t0002g0026 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0055 a0002c0002t0007g0253 a0002c0002t0007g0265 a0002c0002t0007g0291 a0002c0002t0012g0052 a0002c0002t0018g0379 a0002c0011t0001g0108 a0002c0011t0001g0120 a0002c0011t0001g0121 a0002c0011t0001g0128 a0003c0018t0001g0267 a0004c0014t0003g0127 a0006c0005t0003g0153 a0007c0008t0001g0167 a0009c0017t0001g0351 a0011c0021t0001g0189 a0013c0022t0001g0177 a0015c0019t0001g0225 a0018c0016t0001g0137	183	454	0.4031	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGA TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCC TCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGCT AATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCT GGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAG TGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(631): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGT TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTGTT TTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTTCA ATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGG CTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCGGC TAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCT GGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	454	0.0022	638	c.684 others(653): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGC CTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGGC TAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGC TGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAA GTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTTT AATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCACT TGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(631): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAT TATATATAATATATATTATATATATTATATATAATATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03139.hp2 HG02257.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0010 a0001c0001t0007g0011	2	346	0.0058	638	c.-70 others(655): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATATAATATA TATTATATATAATATATATAATATATATATTATATATATTATATATAATA TATTTATATTATATATTATATATAATATATTTATATTATATATTATATAT AATATATTTATATTTATATAATATATAATATATTTATATTTATATATAAT ATATATAATATATTTATATTTATGTATAATATATATAATATATTTATATT TATGTATAATATATATAATATATTTATATTTATGTATAATATATATAATA TATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(631): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGAGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	638	c.12 others(649): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCTCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(631): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGA GGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGG AGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCA GAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGG GAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGA GGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGA GGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGG GAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGG GAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGG AGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGA GGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGG GGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01106.hp1 others(1): Show HG00099.hp2 HG00639.hp1 HG01106.hp1 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	352	0.0114	638	c.12 others(649): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTT CCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTC CCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCC CCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCC TCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC CTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCC CCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCC TCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACC TCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTC CCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(631): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGG GGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGA GAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00642.hp2 others(17): Show HG00323.hp2 HG00423.hp1 HG00642.hp2 HG01074.hp2 HG01123.hp2 HG01192.hp1 HG01257.hp2 HG02040.hp2 HG02056.hp2 HG02155.hp1 HG02698.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG04115.hp2 NA18941.hp1 NA18980.hp2 NA19007.hp2 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	20	352	0.0568	638	c.12 others(649): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCC TCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCT TCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTC CCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTC ACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACC CTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	422	0.0024	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAAC TCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCAGCGGGGGTGGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGG GCCCAGCGGGGGTTGGAGTTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	422	0.0024	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGG CAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAAACTCCAACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAAC CCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(631): Show TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGG GAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGTGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCAGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	638	c.64 others(649): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCACCCCCCAGGCAACTCCACCCCCGCTGG GCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(631): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0253 a0001c0019t0002g0253	1	364	0.0028	638	c.157 others(657): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCAC CCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCC CGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCAC CCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCC CCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACC CCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACC CCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCT CCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCC CGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGATGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGA TGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATG GTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTA ATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGAT GATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGATAGTGATGATGA TGGTGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTG ATGACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGC GATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGA TGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATG ATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGT GTTGATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGG CGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02965.hp1 HG02109.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013	a0001c0001t0002g0161 a0001c0001t0007g0031 a0001c0001t0013g0049 a0001c0001t0002g0161 a0001c0001t0007g0031 a0001c0001t0013g0049	3	258	0.0116	638	c.113 others(657): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGATGGT GGTGGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATG ATGGTGGTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGAT AATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGAT GGTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAA TGATGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATG GTAATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGAT GGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGG TGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTG GTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGA TGATGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTG ATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48605186	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGT GATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGATGGTGGTGA TGATGGTGATGATGGTGATGGTGAGGATGATGGTGGTGGTGATGGTGATG GTAATGGTGGTGGTGATGGTGATGGTGATAATGTGGCGATGGTGATGGTA ATGATGGTGGTGATGGTGTTGATTGTGATGGTGATCATGGTAATGGTGAT GATGGTGGTGGCGGTGACGGTGATGGTAATGATGGTGATAGTGATGATGA TGGTGATGGTGGTGGCGGTGATGGTGATGGTAATGATGGTGGTGATAGTG ATGACGGTGATGGTAATGATGGTGGTGATGGTGGCGGTGGCGGTGATGGC GATGGTGATGGTAATAATGGTGGTGATGGTGACGGTGATGATGGTGATGA TGATGATGAGGGTGATGGTGATGATGTTGGTGATGGTGATGGTGGTGATG ATAATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGT GTTGATGGTGATCGTGGTGGTAATGGTGATGATGATGGTGGTGGTGATGG CGATGGTGATGATGGTGGTGATGGTGTTGATGGTGATCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG03195.hp2 others(2): Show HG01884.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0012 a0001c0001t0002 a0001c0001t0003 a0001c0003t0012	a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0003g0006 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0158 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0003t0012g0144	5	258	0.0194	638	c.113 others(657): Show c.113-41409_113-41408insATGATGGTGATGGTGATGATGGTGGT GGTGATGGTGATGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGAGGATG ATGGTGGTGGTGATGGTGATGGTAATGGTGGTGGTGATGGTGATGGTGAT AATGTGGCGATGGTGATGGTAATGATGGTGGTGATGGTGTTGATTGTGAT GGTGATCATGGTAATGGTGATGATGGTGGTGGCGGTGACGGTGATGGTAA TGATGGTGATAGTGATGATGATGGTGATGGTGGTGGCGGTGATGGTGATG GTAATGATGGTGGTGATAGTGATGACGGTGATGGTAATGATGGTGGTGAT GGTGGCGGTGGCGGTGATGGCGATGGTGATGGTAATAATGGTGGTGATGG TGACGGTGATGATGGTGATGATGATGATGAGGGTGATGGTGATGATGTTG GTGATGGTGATGGTGGTGATGATAATGATGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGTTGATGGTGATCGTGGTGGTAATGGTGA TGATGATGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGGTGTTG ATGGTGATCATG	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(631): Show TCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCC CCTCTGCCCCACCCATCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCC CTCCGCCCCACCCATCCCCCCTCCCCTCCCCTCACCCATCCCTCCCTCGC CCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCC TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCAT CCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCC CTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACC CCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	112	0.0089	638	c.142 others(659): Show c.1425+16598_1425+16599insACCCCACCCATCCCCCATCCTCCC TCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCTCCCCTCACC CATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCC TCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCCCC TCACCCATCCCTCCCTCGCCCCACCCATCCCTCCCTCCGCCCCACCCATC CCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCT CCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCC ACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCAC CCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCEA3_chr1_23375909_23429748	23404685	G G	GCGGTGGC others(631): Show GCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGTGGTTGAGGCAGGAG GATTTCTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACAAAGTGAGAC TCTGTCTCTACAAAAAAAAAATTTTTTTTAAGTTAGCTGGGTGTGGTGGT GTGCACCTGTGGTCCTAGCTACACGGGAGGCTGGAGCAGGAGGATTGCTT GAGCCCAGGAGGTTGAGGCTGCAGTGAGCCCTGTTTATACCACTGCACTC CAGCCTGGGTGAGATCCTGTCTCAGAAAAGGTGGTGTCGGGGAGTTCCAT ATGAAAATCTAGGTGTCTGGCTTTTCTTTAAAAAATTGGAAGACATGGCA CCCTGGACCTGCATTTCCCCAAAGCAACAATCAGCTGCAGTGGGGTAGTG GCTGCCCCCTTCAGACAGGCACATACTTTCTAGTTTGCCATGATCTCCAC TAGTCACCCCGTGTATGCATGTGCTCTTGATCCCCAGAGAATGTTGAATT TGCAAGGAAGTGCTCAATAGATGTGCTTGCCAAATCAATGAATGGATGAA AGAACGGAAGAGAAAAATGAAATAGAGAAGTAAATCATGCAGGAAACAGT CTGGGTAGGAGACAAATTAATGAGATTTGCTGCCTGGCA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	378	0.0027	638	c.443 others(655): Show c.443+3341_443+3978dupTGCCAGGCAGCAAATCTCATTAATTTGT CTCCTACCCAGACTGTTTCCTGCATGATTTACTTCTCTATTTCATTTTTC TCTTCCGTTCTTTCATCCATTCATTGATTTGGCAAGCACATCTATTGAGC ACTTCCTTGCAAATTCAACATTCTCTGGGGATCAAGAGCACATGCATACA CGGGGTGACTAGTGGAGATCATGGCAAACTAGAAAGTATGTGCCTGTCTG AAGGGGGCAGCCACTACCCCACTGCAGCTGATTGTTGCTTTGGGGAAATG CAGGTCCAGGGTGCCATGTCTTCCAATTTTTTAAAGAAAAGCCAGACACC TAGATTTTCATATGGAACTCCCCGACACCACCTTTTCTGAGACAGGATCT CACCCAGGCTGGAGTGCAGTGGTATAAACAGGGCTCACTGCAGCCTCAAC CTCCTGGGCTCAAGCAATCCTCCTGCTCCAGCCTCCCGTGTAGCTAGGAC CACAGGTGCACACCACCACACCCAGCTAACTTAAAAAAAATTTTTTTTTT GTAGAGACAGAGTCTCACTTTGTTGCCCAGGCTGGTCTCGAACTCCTGGG CTCAAGAAATCCTCCTGCCTCAACCACCCAAAGTGCTGGGATTACAGGTG TGAGCCACCG	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	5/10			chr1	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01243.hp1 others(10): Show HG00735.hp2 HG00741.hp2 HG01243.hp1 HG01361.hp2 HG02280.hp1 HG02723.hp2 HG02976.hp2 HG03492.hp2 HG03669.hp2 HG03710.hp1 HG04204.hp1 NA18522.hp1 homoSapiens_chm13v2.hp1	a0001 a0011 a0013 a0001 a0011 a0013	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0028 a0001c0038 a0001c0039 a0011c0033 a0013c0047	a0001c0001t0008 a0001c0001t0010 a0001c0002t0062 others(9): Show a0001c0001t0008 a0001c0001t0010 a0001c0002t0062 a0001c0003t0006 a0001c0003t0022 a0001c0003t0035 a0001c0005t0002 a0001c0028t0060 a0001c0038t0004 a0001c0039t0046 a0011c0033t0037 a0013c0047t0041	a0001c0001t0008g0013 a0001c0001t0010g0020 a0001c0002t0062g0092 others(10): Show a0001c0001t0008g0013 a0001c0001t0010g0020 a0001c0002t0062g0092 a0001c0003t0006g0056 a0001c0003t0006g0065 a0001c0003t0022g0007 a0001c0003t0035g0038 a0001c0005t0002g0032 a0001c0028t0060g0087 a0001c0038t0004g0003 a0001c0039t0046g0057 a0011c0033t0037g0039 a0013c0047t0041g0047	13	94	0.1383	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCC AGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGTGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0036 a0001c0011t0047 a0001c0011t0036 a0001c0011t0047	a0001c0011t0036g0045 a0001c0011t0047g0066 a0001c0011t0036g0045 a0001c0011t0047g0066	2	94	0.0213	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGT CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCTGCC GGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(631): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCC CGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGG GGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGCCTCTGC CCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGT CTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0034 a0001c0035t0034	a0001c0035t0034g0026 a0001c0035t0034g0026	1	94	0.0106	638	c.108 others(659): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACAGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCC AGGCAGAGGCGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCT CCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879335	G G	ACCTCTGC others(631): Show ACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGC AGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCT GGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAG CGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGG CCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGG GAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCG CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCC GCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGA TGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCC TCTGCCTGGCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGC CGCCCCGACTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGG AGGTGGGGAGCGCCTCTGCCCGGCCGCCCTGTCTGAGAGGTGAGGAGCAC CTCTGCCTGGCAGCCGCCCTGTCTGGGATGTGAGGAGCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0007 a0001c0042t0007	a0001c0042t0007g0068 a0001c0042t0007g0068	1	94	0.0106	638	c.108 others(659): Show c.1084+10450_1084+10451insGCTCCTCACATCCCAGACAGGGCG GCTGCCAGGCAGAGGTGCTCCTCACCTCTCAGACAGGGCGGCCGGGCAGA GGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACC TCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGC GGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCGGCCGGGCAG AGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGCGCTCCCCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAG GCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGACAGGGCGGCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACGGGGC GGCCGGGCAGAGGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar

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Search Results (Total: 10000 hits)