Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
TMEM132D_chr12_129066726_129909025	129828693	G G	GAGGGAGA others(924): Show GAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAG GAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAG GAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0049 a0001c0004t0006g0049	1	94	0.0106	931	c.79+ others(948): Show c.79+74567_79+74568insTCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTTCCTTCTC CCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
UCN3_chr10_5359966_5379692	5370151	A A	ATATGTGT others(924): Show ATATGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGT GTGTATACGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGT ATGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGT ATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGTGTATGTGTGT GTATATGTGTGTGTATGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGT GTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGT GTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGTGT GTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGTGTGTATGTGT GTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTTCAT GTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATGTGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGCGTGTATATGTGTGTGTGTATGTG TGTATGTGTGTGTATACGTGTGTATATGTGTGTGTGTATATGTGCGTGTA TATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTGTATGTCTGTGTATATGTGTGTGTA TATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTATGTGTGTGTA TGTGTGTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGTGTATATGCG TGTGTATGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCG TGTGTATGTGTATGTATGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0396 a0001c0002t0005g0396	1	468	0.0021	931	c.-6- others(946): Show c.-6-3555_-6-3554insATATGTGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATACGTGTGTATGTGTGTGTATATGCGTGTGTATAT GTGTGTGTGTATGTGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTAT ATGCGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGCGTGTATGTGT GTATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTATGTGT GTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGT GTATGTGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGT GTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGT GTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATAT GTGTGTTCATGTGTATGTGTGTAAGGTGTGTATGTGTGTGTATGTGTGTG TATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGCGTGTGTATATG TGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGCGTGTATATGTGTG TGTGTATGTGTGTATGTGTGTGTATACGTGTGTATATGTGTGTGTGTATA TGTGCGTGTATATGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATG TGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTCTGTGTATA TGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTGTA TGTGTGTGTATGTGTGTGTGTGTATATGTGTGTATGTGTGTGTATGTGTG TGTATATGCGTGTGTATGTGTATGTGTGTGTGTATGTGTGTGTATGTGTG TGTATATGCGTGTGTATGTGTATGTATGTGTATGTGTGTGTGTATGTGTG T	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR25_chr14_100371485_100535303	100526932	A A	ATCACCAC others(924): Show ATCACCACCACCACCACCATTATCACCAGGACCAGCACCATCAGCATCAC TATCTCTATACCCACCACCACCACCACTGTCATCATTGTCACTACTACCA CTCCTGTCATCACCACCACCACCACCACCATTATCACCAGGACCAGCACC ATCACCATCACTATCTCTATACCCACCACCACCACTACTGTCATCATTGT CACTACCACCACTCCTGTCATCACCACCACCACCACCATTATCACCAGGA CCAGCACCATCAGCATCACTACCACCACCAGTGTCATCATTGTCACTACT ACCACTCCTGTCATCACCACCACCACCACCACCATTATCACCAGGACCAG CACCATCAGCATCACTACCACCACCAGTGTCATCACCGCCACCACCACCA GTACCACCATCAGCATCACTATCTCTATACCCACCACCTCCACTGTCATC ATTGTCACTACCACCACTACTGTCATCATCACCATTATCACCAGCACCAG CACCATCAGCATCACTATCTCTATACCCACCACCACCACCATCACCGGCA CCACCGCCATTATCACCAGCACCACTGCCATCAGCATCACTATCTCTATA CCCACCACCACCACAGTCATCATTGTCACTACTACCACTCCTGTCATCAC CAGCACCACCGCCATTATCACCAGCACCACCGCCATTATCACCAGCACCA CTGCCATCAGCATCACCATCACCATCTTTGTACTCATCACCATCGTCACC ACCGCGCCACCACCATCACTGCCACCACTATTATCACTAGCACTACCACC ATCAGCATCAGCATCACCATCTGTATACTCACCACCATTACCATCATCGT CATCACTGCCACCACCATCACCACTGTCCTCTTTATCTCCAGCACCACCA TCATCGTCACTGTCACCATACCACTCTCATCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG02109.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0075 a0002c0002t0001g0076	2	228	0.0088	931	c.127 others(948): Show c.1272+902_1272+903insCACCACCATTATCACCAGGACCAGCACC ATCAGCATCACTATCTCTATACCCACCACCACCACCACTGTCATCATTGT CACTACTACCACTCCTGTCATCACCACCACCACCACCACCATTATCACCA GGACCAGCACCATCACCATCACTATCTCTATACCCACCACCACCACTACT GTCATCATTGTCACTACCACCACTCCTGTCATCACCACCACCACCACCAT TATCACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCA TTGTCACTACTACCACTCCTGTCATCACCACCACCACCACCACCATTATC ACCAGGACCAGCACCATCAGCATCACTACCACCACCAGTGTCATCACCGC CACCACCACCAGTACCACCATCAGCATCACTATCTCTATACCCACCACCT CCACTGTCATCATTGTCACTACCACCACTACTGTCATCATCACCATTATC ACCAGCACCAGCACCATCAGCATCACTATCTCTATACCCACCACCACCAC CATCACCGGCACCACCGCCATTATCACCAGCACCACTGCCATCAGCATCA CTATCTCTATACCCACCACCACCACAGTCATCATTGTCACTACTACCACT CCTGTCATCACCAGCACCACCGCCATTATCACCAGCACCACCGCCATTAT CACCAGCACCACTGCCATCAGCATCACCATCACCATCTTTGTACTCATCA CCATCGTCACCACCGCGCCACCACCATCACTGCCACCACTATTATCACTA GCACTACCACCATCAGCATCAGCATCACCATCTGTATACTCACCACCATT ACCATCATCGTCATCACTGCCACCACCATCACCACTGTCCTCTTTATCTC CAGCACCACCATCATCGTCACTGTCACCATACCACTCTCATCTTCACCAC CAC	WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(924): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	246	0.0041	931	c.-10 others(948): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCC CTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(925): Show TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATATAAATATTTATATATTTATA GATAAATGTATAAATATATAAATATTTATATATTTATAGATAAATATATA AATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAA TATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATATT TATAGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18998.hp1 NA18946.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0256 a0001c0001t0001g0262	2	306	0.0065	932	c.130 others(951): Show c.1308+1278_1308+1279insTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATATAAATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATAGATAAATATATAAATAT TTATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTAT CTATAAATATTTATATATTTATATATTTATCTATAAATATATAAATATTT ATATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAC ATTTATCTATAAATATATAAATATTTATATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1118420	G G	GTTCCTCC others(925): Show GTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGC GTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTC CTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGC CTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTAT CCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCC CAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGA GTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCC TCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCC GGAGTTCCTCCCAGCATTATCCCTGAACCCGAGTTCCTCCCAGCGTTATC CCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGAGCCCGAGTTCCTCCCA GCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGT TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCCAGCGTTATCCCTG AGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTC CCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCT GAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0241 a0001c0001t0031g0241	1	337	0.0030	932	c.246 others(949): Show c.246+6762_246+6763insACTCAGGCTCAGGGTTAACGCTGGGAGG GACTCAGGCTCAGGCAATAACGCTGGGAGGGACTCAGGCTCAGGGATAAC GCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTC AGGCTCAGGGATAACGCTGGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGA ACTCCGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGG GATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCA GGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGG AGGACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAA CGCTGGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCT CAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCT GGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGGA GGAA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289679	C C	CTGCTCCG others(925): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCCCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	932	c.38 others(943): Show c.3884_*3885insCACGGGGGACGGAGCAGGGACACGGGACGGAGCA GACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGACGG AGCAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGG ACGGGGCAGGGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACA CGGGACGGAGCAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGG GGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGACACGGGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCA GAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2711		chr1	TogoVar
AHRR_chr5_316714_443285	344782	G G	GGGCTGTG others(925): Show GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGCGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGGGGG TGTGTGCGGTATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTG TGTGTGAGGCTGTGTGTGTGCGGGGGGAGCTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0014 a0003c0004t0004g0014	1	268	0.0037	932	c.62+ others(945): Show c.62+819_62+820insGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGT GTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGT GGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGG GAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTG TGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGT GTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GCGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGG GGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGA GCTGTGTGTGTGGGGGTGTGTGCGGTATGTGTGAGGCTGTGGGGGGCTGT GTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT GTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGTGCGGGGGGAGCTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AUTS2_chr7_69593475_70798506	70495701	A A	ACACACAC others(925): Show ACACACACACACCCCACACATGCACACGTCACATCAGCATCGATCACACA CCCCACTCACACACACCACGTACACAGTCACACACACACACCCCACACAT GCACACGTCACATCAGCATCGATCACACACACCACTCATACCACATACAC AGTCACACACACACACCCCCCACACACACATGCACACGTCACATCAGCAT CTATCACACACCCCACTCACAGACACCACATACACAGTCAGACACACACC CCACACATGCACACGTCACATCAGCATCGATCACACACCCCACTCACACA CACCACGTACACAGTCACACACACACACACCCCACACATGCACACGTCAC ATCAGCATCGATCACACACACCACGTACACAGTCACACACACACACACAC CCCCCACACATGCACACGTCACATCAGCGTCGATCACACACCCCACTCAC ACACACCACGTACACAGTCACACACACGCACACCCCACACATGCACACGT CACATCAGCGTCGATCACACACCCCACTCACACCACGTACACAGACACAC ACACACACCCCACACATGCACATGTCACATCAGCATCGATCACACACCCC ACTCACACACACCACGTACACAGTCACACACACACACCCCACACATGCAC ACGTCACATCAGCATCGATCACACACCCCACTCACACACACCACGTACAC AGTCACACACACACACCCCACACATGCACACGTCACATCAGCGTCGATCA CACACCCCACTCACACCACGTACACAGACACACACACACACCCCACACAT GCACACGTCACATCAGCGTCGATCACACACCCCACTCACACCACGTACAC AGTCAGACACACACACCCCACACATGCACACGTCACATCAGCATCGATCA CACACCCCCTCACACACACCACGTACACAGTCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp2 HG01934.hp1 others(3): Show HG00597.hp1 HG01081.hp2 HG01934.hp1 HG02258.hp1 HG02615.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0003t0008	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0004g0042 a0001c0001t0005g0015 a0001c0001t0014g0070 a0001c0003t0008g0039	6	76	0.0790	932	c.690 others(951): Show c.690+60010_690+60011insCCCACACATGCACACGTCACATCAGC ATCGATCACACACACCACTCATACCACATACACAGTCACACACACACACC CCCCACACACACATGCACACGTCACATCAGCATCTATCACACACCCCACT CACAGACACCACATACACAGTCAGACACACACCCCACACATGCACACGTC ACATCAGCATCGATCACACACCCCACTCACACACACCACGTACACAGTCA CACACACACACACCCCACACATGCACACGTCACATCAGCATCGATCACAC ACACCACGTACACAGTCACACACACACACACACCCCCCACACATGCACAC GTCACATCAGCGTCGATCACACACCCCACTCACACACACCACGTACACAG TCACACACACGCACACCCCACACATGCACACGTCACATCAGCGTCGATCA CACACCCCACTCACACCACGTACACAGACACACACACACACCCCACACAT GCACATGTCACATCAGCATCGATCACACACCCCACTCACACACACCACGT ACACAGTCACACACACACACCCCACACATGCACACGTCACATCAGCATCG ATCACACACCCCACTCACACACACCACGTACACAGTCACACACACACACC CCACACATGCACACGTCACATCAGCGTCGATCACACACCCCACTCACACC ACGTACACAGACACACACACACACCCCACACATGCACACGTCACATCAGC GTCGATCACACACCCCACTCACACCACGTACACAGTCAGACACACACACC CCACACATGCACACGTCACATCAGCATCGATCACACACCCCCTCACACAC ACCACGTACACAGTCGCACACACACACCCCACACATGCACACGTCACATC AGCATCGATCACACACCCCACTCACACACACCACGTACACAGTCACACAC ACACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(925): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	391	0.0026	932	c.36 others(943): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(925): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	932	c.36 others(943): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(925): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGG AGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0008 a0007c0005t0008	a0007c0005t0008g0257 a0007c0005t0008g0257	1	338	0.0030	932	c.300 others(949): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGG GCGGGGTACGTGGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(925): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0304 a0002c0007t0003g0304	1	338	0.0030	932	c.300 others(949): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CLTCL1_chr22_19174473_19296719	19202402	C C	CCGCCATC others(925): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCAC CCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCA TCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCC CCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCC TTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACG GCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACC ACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGC CATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCT CCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCT CCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCA CGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGTACCTCCCGCA CCACCCCTCCTTCCGCCATCACGGCACCTCCCCCAAAACCCCTCCTTCCG TCATCCACGGCACCTCCCGCACCACCCCTGCTTCACCATCCACGGCACCT CCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCT CCTTCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCAC GGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCAC CACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCG TCATCCACGGCACCTCCCGCACCACCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0008 a0007c0009t0008	a0007c0009t0008g0333 a0007c0009t0008g0334 a0007c0009t0008g0333 a0007c0009t0008g0334	2	346	0.0058	932	c.360 others(949): Show c.3601-910_3601-909insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGC GAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGGTGAAGCAGGGGTGGTGCGGGAGGTGCCGTG GATGACGGAAGGAGGGGTTTTGGGGGAGGTGCCGTGATGGCGGAAGGAGG GGTGGTGCGGGAGGTACCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGG TGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCG GAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGT GGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGA GGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGA GGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGG CGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTG GTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCC GTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAG GAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGG GAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGAT GGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
DBNDD1_chr16_89999871_90024456	90008154	G G	GTCCCAAG others(925): Show GTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGG GGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGGGCCTCAGC CCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACA CACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCA GGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACTTCCCA AGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAAGGGGCCTCA CCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACC CACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCC AGGACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCC AAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAAGGGGCCTC AGCCCACCACACACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCA CGCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCT CCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACG TCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGG GCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCC CCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCAC ACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGG ACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAAG GGGCCTCACCCCCCAAACACACCTCCCAGGACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02896.hp2 HG02976.hp2 HG02055.hp2 HG02896.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	3	412	0.0073	932	c.319 others(947): Show c.319+629_319+630insAGTCCTGGGAGGTGTGTTTGGGGGGTGAGG CCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGA AGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGA GGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTT GGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTGA GGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTG GGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTCCT GGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGT GCGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTGTGGTGG GCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCC CTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGAAGT CCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGT GTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGGG GGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCC CCTTGGGAAGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACG TCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAG GTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGG TGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCTGAG GCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGG GA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634795	C C	CCCTTTCC others(925): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	250	0.0040	932	c.105 others(949): Show c.105-1113_105-1112insCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTT TCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCT TCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(925): Show GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGCACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGAAGGAGA GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03471.hp1 HG06807.hp2 HG03098.hp2 HG03471.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0063 a0001c0001t0079 a0001c0001t0038 a0001c0001t0063 a0001c0001t0079	a0001c0001t0038g0013 a0001c0001t0063g0060 a0001c0001t0079g0014 a0001c0001t0038g0013 a0001c0001t0063g0060 a0001c0001t0079g0014	3	96	0.0313	932	c.-16 others(953): Show c.-168+57738_-168+57739insGTCCCTCCTTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(925): Show GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAAGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGAAGGGACGGAGG GAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGGA GGGAAGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGCACGGAGG GAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGATGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGA GGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGAAGGAGA GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAAGGAGGGACGGAGGGAGGGAAGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0078 a0001c0001t0044g0078	1	96	0.0104	932	c.-16 others(953): Show c.-168+57738_-168+57739insGTCCCTCCTTCCCTCCCTCCGTCC CTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCTCTCCTTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCATCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTGCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCC CTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
HNF4A_chr20_44350699_44437845	44404776	T T	TGTGTTTG others(925): Show TGTGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGT GTATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGT AAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGAC TGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGAC TGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGT GCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGT GTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGAC TGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCAT GTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCA CGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCATGTGGTGTGT GTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGT GTGTGGGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGAC TGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGTGGACTG TGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTG TGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTG GTGTGTGTGTGCGCACGTGTGTGTGCGTGTCTGTGTGGTGTGTGGACTGT GTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTG GTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCATGTGTGTGCTTGTGTGT GGACTGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02886.hp1 HG02723.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0055 a0001c0001t0045 a0001c0001t0055	a0001c0001t0045g0012 a0001c0001t0055g0254 a0001c0001t0045g0012 a0001c0001t0055g0254	2	322	0.0062	932	c.50- others(947): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCATGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACG TGTGTGTGTGCTTGTGTGTGGGTGGACTGTAGTGTGTGTGCGTGACTGTG GTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGT GGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGT GTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGG ACTGTGGATTGTGTGGTGTGTGTGTGCGCACGTGTGTGTGCGTGTCTGTG TGGTGTGTGGACTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGT GTGTGCTTGTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCATG TGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT GT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(925): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGG GGTCAGCCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCGGCCCCCCGCCGGGCCAGCCACCCCGTCCGGGAGGGAGG TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCGGCCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0034 a0002c0003t0003g0034	1	334	0.0030	932	c.369 others(949): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGC TGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(925): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGAGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTCTGCAGAGATGGGGGC CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	375	0.0027	932	c.-20 others(943): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGC GACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGAGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAAT CTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAGTC TGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
KIRREL3_chr11_126418358_127005770	126632686	G G	GCCACAAG others(925): Show GCCACAAGCCTCCTTCCCTGTGCAGCTGCTTTTCTGTCCTGCCCAAGAGC AGCCCTGGGGAGGGGGCAATTGAGTGAGGGACTGCGAATGCCAGAAAACA TGGGTGAGAAGCATGTCCGCACCTCCCACCCAACCTGGTGGGAATCCTGT AAAGCCTGCCTGAACTCTTGTTCATATCGTTGCTGCATACTGGGCATTGG GAGATAAAAATTGATGAGGAGACATTAGTATACTTGTTACAGCAGTGGCT AATATGCAGTGGAGGAGGCTTGTGGGGAGAGAGAGAGAGAGAGAGAAAAG AAGAAGAAAAAGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGAAGGAGGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GGAAGGAACGGTAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCC CTTATGCAGCTCAGATGCCCACTCCATGACAGGTATGAGCTGACCTGGGC ATGCATTCTCTGCAGGGAGACAATTACTGTTGCTGTGTGTGACAGGGTTG ATACATCCTGCTGAAGGTAGGCATCTCTGTGTTTCCTTATTTTGTAATCC TTTCAAGCCTTCTGAATCCAGCCTCTGTCTCCAGCTGTCCAGTTCTGGAC AAGCCTGCTACTCAGTGGAACCCCTCGTTTCTACCCCCAGGTGGTCTAGG CACTGAGGCTACAGAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGC CGCTACCGTTCCTTCCTTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTTCCTTCCTTTCCCTTCCTTTCCTTTCTTT TTCTTCTTCTTTTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0072 a0001c0012t0001g0072	1	114	0.0088	932	c.56- others(949): Show c.56-69775_56-69774insGGAGAGAGAGAGAGAGAGAGAAAAGAAG AAGAAAAAGAAAGGAAAGGAAGGGAAAGGAAGGAAAGGAAGGAGGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAAGGAAGGAACGG TAGCGGCTATCCAAGGTGCGGACAACAGCCCTTATAGCCCTCTGTAGCCT CAGTGCCTAGACCACCTGGGGGTAGAAACGAGGGGTTCCACTGAGTAGCA GGCTTGTCCAGAACTGGACAGCTGGAGACAGAGGCTGGATTCAGAAGGCT TGAAAGGATTACAAAATAAGGAAACACAGAGATGCCTACCTTCAGCAGGA TGTATCAACCCTGTCACACACAGCAACAGTAATTGTCTCCCTGCAGAGAA TGCATGCCCAGGTCAGCTCATACCTGTCATGGAGTGGGCATCTGAGCTGC ATAAGGGCTATAAGGGCTGTTGTCCGCACCTTGGATAGCCGCTACCGTTC CTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCCTCCTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCTTTTTC TTCTTCTTTTCTCTCTCTCTCTCTCTCTCCCCACAAGCCTCCTCCACTGC ATATTAGCCACTGCTGTAACAAGTATACTAATGTCTCCTCATCAATTTTT ATCTCCCAATGCCCAGTATGCAGCAACGATATGAACAAGAGTTCAGGCAG GCTTTACAGGATTCCCACCAGGTTGGGTGGGAGGTGCGGACATGCTTCTC ACCCATGTTTTCTGGCATTCGCAGTCCCTCACTCAATTGCCCCCTCCCCA GGGCTGCTCTTGGGCAGGACAGAAAAGCAGCTGCACAGGGAAGGAGGCTT GTGG	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(925): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	284	0.0035	932	c.126 others(949): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATGGATATATATATATATGGATATATATATGGATATATAT ATATATGGATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATGGATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LINGO2_chr9_27932617_29218601	28189685	G G	GAGGGAGG others(925): Show GAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAA GGAAGGGAGGAAGAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAA GGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGAAAGG AAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGG AAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAA GAAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGA GGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGG AAGGAAGGAAGGGAGGAAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG06807.hp2 HG01074.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0019 a0001c0001t0029g0024 a0001c0001t0001g0019 a0001c0001t0029g0024	2	62	0.0323	932	c.-36 others(953): Show c.-36+105522_-36+105523insTCCTCCCTCCCTCCCTTCCTCCCT TCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTC CTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT TCCTTCCTTCCTTTCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCC CTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTC CTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCC CTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTTCTTC CTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTCCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
MAD1L1_chr7_1810795_2237945	1930327	A A	ACTGCCAC others(925): Show ACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCTCCTCGCCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCC CCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCC GTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACG TCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGC CACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCC GCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACAAACCCACCACCACGTCCACACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCC CATCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCA CGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCAC TGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTTCGCCCCGTC CCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCC ACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACAC TGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCC CCCACCGCCACGTCCCCCTCGCCCCGTCCCCCG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	264	0.0038	932	c.180 others(951): Show c.1807+6359_1807+6360insCGGGGGACGGGGCGAGGGGGACGTGG CGGTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGA CGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGC GGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGG CAGCGGGGACGGGGCGAAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGT TGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGG GGCGATGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGG GACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTTGTGGCA GTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACG TGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGG GGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACG GGGCGACGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGAGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(925): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAA GGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGG GGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGA GGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAG GGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGG GGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGG GGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	272	0.0037	932	c.250 others(947): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCATCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCC TCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCA CCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGC CCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(925): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGG GGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGGAAAG GGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGG GGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGGAGGAGGGAGGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAG GGGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAA GAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAA GAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGG GGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGAGGGG GAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGG GAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGG AGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGG GAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	272	0.0037	932	c.250 others(947): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCC CTCCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC CCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCGTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCA CCCCTTTCCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTT TCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(925): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTA GGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAG GGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGG GTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAG GATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGG GGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGC GTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGG ATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGG GGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGC GTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGG ATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp1 NA19086.hp1 NA18979.hp2 NA18982.hp1 NA19086.hp1	a0011 a0011	a0011c0008 a0011c0028 a0011c0008 a0011c0028	a0011c0008t0001 a0011c0028t0001 a0011c0008t0001 a0011c0028t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057	3	249	0.0121	932	c.148 others(951): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGC TGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCC AGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACT CCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCT GGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCA GCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCC ATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGG ACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGC CCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCA TCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(925): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAGAGGG GAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGG AGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGA GGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGAGGAGG GGAGGAAGGGGAGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGGGAG GGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGAGGTGGGAGGGGG AGGGGAGGACGGGGAGGGGAGGAGGGGAGGAGGGGAGGAGGGGGAGGGGA GGGGGAGGGGAGGAGGGGAGGAAGGGGAGGGAGGAGGGGAGGAAGGGGGA GGGGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGG AGGAGGTGGGAGGGGGAGGGGAGGACGGGGAGGGGAGGAGGGGGAGGGGA GGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGAGGGGAGGGGAGGAGG GGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAAAGG AAGGGAGGGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGA GGGGAGGAGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGT GGAGAGGAGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTG CGGGAGGGGAGGGTAAAGGAAGGGAGGGGAGGGTGGGGGACGGGAGGGAA GAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	208	0.0048	932	c.279 others(947): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCGTCCCCCACCCTCCCCTCCCTTCCTTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC TCCTCCCCTCCCCCTCCTCCCCTCCCCGTCCTCCCCTCCCCCTCCCACCT CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCTCC CCCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTCCTCCCCTCCTCCCCTCC CCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCGTCCTCC CCTCCCCCTCCCACCTCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCTCCCCTTCC TCCCCTCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTT CTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCTCCCCTCTCT TC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(925): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCAAGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTGTGTAGGGCATGTGTGTGGTG TATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCATGGTGTG TATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGGCCATGTG TGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTG TATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGTAGT GTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTATGGTAT GTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTGGTGTATG TGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATGGTGTGTG TGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATGTGTGTGG TGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTGTATTG TGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTGGTGTGGG AGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTTGTGTATG TGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTGGTGTGTA TGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	314	0.0032	932	c.671 others(949): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCTACACACACCACACACATGCACCACATAT ACCCCCTACACCACACACACACAGAACACACCACACACCCCATACTTGCC ACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACACACACAC ACTACACCACACACCTCATACATGCCACCCACACCACACACACACCATAC ATACCACACACACCACACCATACACACCACATACACGCCACGCATGCCAT ACACACCACACACTCCCGCACACCACATACACACCCCTCACACTACACAT GCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(925): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCAAGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTGTGTGGGGCATGTGTGTGGTG TATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCATGGTGTG TATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGGCCATGTG TGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTG TATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGTAGT GTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTATGGTAT GTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTGGTGTATG TGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATGGTGTGTG TGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATGTGTGTGG TGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTGTATTG TGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTGGTGTGGG AGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTTGTGTATG TGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTGGTGTGTA TGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01255.hp2 others(10): Show HG00639.hp2 HG00642.hp1 HG01255.hp2 HG01261.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02148.hp2 HG02300.hp2 HG03471.hp2 NA20752.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0007c0009t0001 a0001c0001t0001 a0001c0001t0003 a0007c0009t0001	a0001c0001t0001g0135 a0001c0001t0003g0001 a0001c0001t0003g0054 others(8): Show a0001c0001t0001g0135 a0001c0001t0003g0001 a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0063 a0007c0009t0001g0060 a0007c0009t0001g0061	13	314	0.0414	932	c.671 others(949): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACACCACACACATGCACCACATAT ACCCCCTACACCACACACACACAGAACACACCACACACCCCATACTTGCC ACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACACACACAC ACTACACCACACACCTCATACATGCCACCCACACCACACACACACCATAC ATACCACACACACCACACCATACACACCACATACACGCCACGCATGCCAT ACACACCACACACTCCCGCACACCACATACACACCCCTCACACTACACAT GCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PEPD_chr19_33381950_33526791	33458800	A A	ATGGCATG others(925): Show ATGGCATGTGTAGTGTGAGGGGTGTGTATGTGGTGTGCGGGAGTGTGTGG TGTGTATGGCATGCGTGGCGTGTATGTGGTGTGTATGGTGTGGTGTGTGT GGTATGTATGGTGTGTGTGTGGTGTGGGTGGCATGTATGAGGTGTGTGGT GTAGTGTGTGTGTGTAGCGTGGGGGGCATGTGCATGGAGTGAGTGTGGTG TATGTGGCATGTATGGGGTGTGTGGTGTGTTCTGTGTGTGTGTGGTGTAG GGGGTATATGTGGTGCATGTGTGTGGTGTGTGTGGGGCATGTGTGTGGTG TATGTGGCTCGTACAGGATGTATGGTGGTGTGTGTGTGGTGCATGGTGTG TATGGTGTGGTGTGTGTGGTGTATGTGGTGTGTGGTGTGGGGGCCATGTG TGTGGTGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTG TATGGCGTGGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGTAGT GTATGGTGTGTTGTGTGTGTTGTGTATGTGGTGTGTGGTGTGTATGGTAT GTGTGTCATGTATGTGGTGTGTGGTGTGGGAGGCATGTGTGTGGTGTATG TGGCATGCACAGGATATGTGGTGGTGTGTGTGTGCTATGTATGGTGTGTG TGTTGTGTATGTGGTGTGTGGTGTGTGTGGTGCAGGGGGCATGTGTGTGG TGTATGTGGCATGCACGGGATGTGTGGTGTTGTGTGTGTGGTGTGTATTG TGTGGTGTGTGTCATGTATGTGATGTGTGGAGTGTGTGGTGTGGTGTGGG AGGCAAGTGTACTGTATGTGGCATGCATGGGATGTGTGGTGTTGTGTATG TGGTGTGTATGGTGTGGTGTGTGTGTCGTGTATGTGGTGTGTGGTGTGTA TGGTGTGGTGTGTGTCGTGTATGCGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02129.hp1 HG03942.hp1 others(11): Show HG01168.hp1 HG02129.hp1 HG03942.hp1 NA18942.hp2 NA18944.hp2 NA18964.hp1 NA18969.hp1 NA18983.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19084.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0007 a0002c0012 a0003c0005 others(1): Show a0001c0007 a0002c0012 a0003c0005 a0005c0008	a0001c0007t0001 a0002c0012t0002 a0003c0005t0001 others(1): Show a0001c0007t0001 a0002c0012t0002 a0003c0005t0001 a0005c0008t0001	a0001c0007t0001g0002 a0001c0007t0001g0087 a0001c0007t0001g0117 others(10): Show a0001c0007t0001g0002 a0001c0007t0001g0087 a0001c0007t0001g0117 a0002c0012t0002g0272 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0025 a0003c0005t0001g0118 a0003c0005t0001g0119 a0005c0008t0001g0121 a0005c0008t0001g0122 a0005c0008t0001g0123	14	314	0.0446	932	c.671 others(949): Show c.671+4194_671+4195insCTCCACACCGCATACACGACACACACCA CACCATACACACCACACACCACATACACGACACACACACCACACCATACA CACCACATACACAACACCACACATCCCATGCATGCCACATACAGTACACT TGCCTCCCACACCACACCACACACTCCACACATCACATACATGACACACA CCACACAATACACACCACACACACAACACCACACATCCCGTGCATGCCAC ATACACCACACACATGCCCCCTGCACCACACACACCACACACCACATACA CAACACACACACCATACATAGCACACACACACCACCACATATCCTGTGCA TGCCACATACACCACACACATGCCTCCCACACCACACACCACATACATGA CACACATACCATACACACCACACACCACATACACAACACACACAACACAC CATACACTACACCACACACACCACACACCACATACACAACACACACCACG CCATACACACCACACACACAACACCACACATCCCGTGCATGCCACATACA CCACACACATGGCCCCCACACCACACACCACATACACCACACACACCACA CCATACACACCATGCACCACACACACACCACCATACATCCTGTACGAGCC ACATACACCACACACATGCCCCACACACACCACACACATGCACCACATAT ACCCCCTACACCACACACACACAGAACACACCACACACCCCATACATGCC ACATACACCACACTCACTCCATGCACATGCCCCCCACGCTACACACACAC ACTACACCACACACCTCATACATGCCACCCACACCACACACACACCATAC ATACCACACACACCACACCATACACACCACATACACGCCACGCATGCCAT ACACACCACACACTCCCGCACACCACATACACACCCCTCACACTACACAT GCCA	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PJA2_chr5_109329722_109414974	109354057	T T	TATCAAGA others(925): Show TATCAAGAGATGTCTATAGATTAGATATCTATATCTAGAGATGTCTATAG ATTAGATATCTATGATATCTAGAGATGTCTATAGAGTAGATATCTATGAT GTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATATCTAT AGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCTATG ATGTCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTATGCTATCTAGAGATATCTATAGATTAGATATC TGTGATATCTAGAGATATCTATAGATTGGATATCTATATCTAGAGATATC TATAGATTGGATATCTATGATATCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATGTCTATGATATCTAGAGATA TCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTATG ATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATATCT ATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATATCTAGAGATGTCTA TAGATTAGATATCTATGATATCTAGAGATGTCTATAGATTAGATATCTAT GATGTCTAGAGATTTCTATAGATTAGATATCTATGATGTCTAGAGATTTC TATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATATCT ATGATATCTAGAGATATCTATAGATTAGATATC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0066 a0003c0003t0002g0066	1	346	0.0029	932	c.176 others(951): Show c.1764+1857_1764+1858insGATATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCTA ATCTATAGAAATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCT AGACATCATAGATATCTAATCTATAGACATCTCTAGATATCATAGATATC TAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGATATCATAGATATCTAATCTATAGATATCTCTAGATATCTATCTAAT CTATAGATATCTCTAGATATCATAGACATCTAATCTATAGATATCTCTAG ATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCCA ATCTATAGATATCTCTAGATATAGATATCCAATCTATAGATATCTCTAGA TATCACAGATATCTAATCTATAGATATCTCTAGATAGCATAGATATCTAA TCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTA GATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCT AATCTATAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTC TAGACATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATAT CTAATCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATC TCTAGACATCATAGATATCTACTCTATAGACATCTCTAGATATCATAGAT ATCTAATCTATAGACATCTCTAGATATAGATATCTAATCTATAGACATCT CTTGAT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(925): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGG GGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAG AGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAG GGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAG GGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAG AGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAG AGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAG GGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAG GGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0015 a0017c0019t0001g0015	1	308	0.0033	932	c.371 others(949): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCC GCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCC TCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGC CCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGC CCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCAC TCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCC TCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCC TCTCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCT CCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCTCC ACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTC CCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCC TCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTT GTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCT CTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCT CCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(925): Show AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTC ACCAGCCTTGTCATCCCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCA GCCTTGTCATCCCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGG GGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGTTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	340	0.0029	932	c.227 others(949): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCAGGGGGCCT GTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGTTTTTCT CTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCC TTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCCCTCTGAGTTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGT CATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCCC TCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCT GTCCTCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
ROBO2_chr3_77035099_77654964	77322918	A A	ATATATTA others(925): Show ATATATTATGGATAATATAATATATTACATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTACATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATATAATATATTATATTATATTATGGATAATATAATATATT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATAT AATATAATATATTATATTATGGATAATATAATATATTATATTATATTATG GATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATT ATATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATATAT TATATTATGGATAATCTAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAATATATTATATTATGGATAATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	160	0.0063	932	c.389 others(953): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTATATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATAATATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATATATT ATATTATGGATAATCTAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(925): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTACATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAATATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAATCT AATATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAA TATATTATATTATGGATAATCTAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	160	0.0063	932	c.389 others(953): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTACATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATAATATATTATATTATGG ATAATATAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAAT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(925): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATAATATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATCTAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAATCT AATATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	160	0.0063	932	c.389 others(953): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATAATATATTATATTATGGATAATATAATATATTATATTATATTATGG ATAATCTAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAAT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATAATATATTATATTATGGATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(925): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTATATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAATATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAATCT AATATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAA TATATTATATTATGGATAATCTAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATATT ATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAAT ATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01361.hp2 HG02056.hp2 others(1): Show HG01255.hp2 HG01361.hp2 HG02056.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0055 a0001c0001t0002g0097 a0001c0001t0003g0140 others(1): Show a0001c0001t0001g0055 a0001c0001t0002g0097 a0001c0001t0003g0140 a0001c0002t0001g0066	4	160	0.0250	932	c.389 others(953): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTATATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATAATATATTATATTATGG ATAATATAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAAT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATAATATATTATATTATGGATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATAA TATAATATATTATATTATGGATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATATTATATTATGGATAATATAATATATTATA TTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	356244	C C	CACTTACT others(925): Show CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTAACAGTCGTCTTCACAGG CGACCGCGCACCACACTAACAGTCGTCTTCACAGGCGACCGCGCACCACA CATACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAACAG TCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACA GGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGC ACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTAC TAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTC TTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGA CCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCAC ACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACA GTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCAC AGGCGACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCG CACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATA CTAACAGTCGTCTTCACAGGCGACCGCGCACCACACTTACTAACAGTCGT CTTCACAGGCGACCGCGCACCACACATACTAACAGTCGTCTTCACAGGCG ACCGCGCACCACACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCA CACTTACTAACAGTCGTCTTCACAGGCGACCGCGCACCACACATACTAAC AGTCGTCTTCACAGGCGACCGCGCACCACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0001 a0001c0002t0001g0002	2	133	0.0150	932	c.-37 others(943): Show c.-3746_-3745insAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGT GGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTC GCCTGTGAAGACGACTGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGA CGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGT ATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGC GCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTG TGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACT GTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTG TGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGT CGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAG ACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAG TAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTG CGCGGTCGCCTGTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCT GTGAAGACGACTGTTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGAC TGTTAGTATGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTATGT GTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTGTGGTGCGCGGTCGC CTGTGAAGACGACTGTTAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTG TTAGTAAGTGTGGTGCGCGGTCGCCTGTGAAGACGACTGTTAGTAAGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3438		chr17	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(925): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0239	1	384	0.0026	932	c.157 others(951): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289290	C C	CCTGCTCC others(925): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC CCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCTGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	290	0.0035	932	c.166 others(949): Show c.1663-977_1663-976insTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCTGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289679	C C	CTGCTCCG others(925): Show CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCCCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTG	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	290	0.0035	932	c.166 others(949): Show c.1663-591_1663-590insGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCCCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0138 a0002c0002t0002g0138	1	420	0.0024	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0320 a0001c0028t0001g0320	1	420	0.0024	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC TACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTACCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATC CATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	420	0.0024	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18969.hp2 NA18959.hp2 NA18969.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0267 a0001c0004t0001g0283 a0001c0004t0001g0267 a0001c0004t0001g0283	2	420	0.0048	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATAGAT GGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGGT AGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02015.hp2 NA18612.hp2 others(3): Show HG00673.hp2 HG02015.hp2 NA18612.hp2 NA18960.hp2 NA19054.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0002c0017	a0001c0001t0002 a0001c0004t0001 a0001c0004t0004 others(2): Show a0001c0001t0002 a0001c0004t0001 a0001c0004t0004 a0002c0003t0001 a0002c0017t0001	a0001c0001t0002g0257 a0001c0004t0001g0278 a0001c0004t0001g0279 others(3): Show a0001c0001t0002g0257 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0004g0020 a0002c0003t0001g0329 a0002c0017t0001g0058	6	420	0.0143	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGG GTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG00741.hp1 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0266 a0001c0004t0001g0280 a0001c0004t0001g0266 a0001c0004t0001g0280	2	420	0.0048	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197162	C C	CATCCATC others(925): Show CATCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCTACC CATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCATCCATCTA CCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTACCCA TCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCCATCCATCCATCCATCTATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0322 a0001c0004t0001g0322	1	420	0.0024	932	c.107 others(949): Show c.1075+214_1075+215insAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT AGATGGATAGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATAGATGGATGGATGGATGGGTAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar

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