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
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(835): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACACAATATATTA TATAATAATATGTAATACATTATACATTATTATATAAGTATATGTAATAC ATTATACATTATTATATAAGTATATGTAATATATATTATACATTATTATA TAAGTATATGTAATATATATTATACATTATTATATAAGCATATAATATAT AATACATAATACATTATATATAAGCATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19007.hp2 NA18951.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0067 a0001c0001t0009 a0001c0001t0067	a0001c0001t0009g0141 a0001c0001t0067g0140 a0001c0001t0009g0141 a0001c0001t0067g0140	2	220	0.0091	842	c.24+ others(859): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATATGTAATACACAATATATTATATAATAATATGTAATACA CAATATATTATATAATAATATGTAATACACAATATATTATATAATAATAT GTAATACACAATATATTATATAATAATATGTAATACACAATATATTATAT AATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATA TATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAAT ACACAATATATTATATAATAATATGTAATACACAATATATTATATAATAA TATGTAATACACAATATATTATATAATAATATGTAATACATTATACATTA TTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTAA TATATATTATACATTATTATATAAGTATATGTAATATATATTATACATTA TTATATAAGCATATAATATATAATACATAATACATTATATATAAGCATAT AACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
TCEA3_chr1_23375909_23429748	23392445	A A	AATACACA others(835): Show AATACACACACACTCCACACATCATACACACACACTCCACACATCATACA CACACACACACTCCACACATCGTACACACACACATTCCACACATCATACA CACACTCCACACACTATACACACCATACACACATTCCTTACATCATACGC ACCACACACACTCCACACATCATACACACACACATACTCCACACATCATA CACACACACTCCACACATCATACACACACACTCCACACATCATACACACT GCACACACACTCCACACATCATACACACCACGCACACTCCACACATCATA CACACACTCCATACATCACACACTCCACACATCACACACTCCACACATCA TACACACATACTCCATAAATCATACACAATACACACACACTGCACACATC ATACACACCACAAACACTCCACACATCAGACAACACACTCCACACATCAT ACACAATACATACATACTCCACACATCATACACAGTGCACACACACTCCA CACATCATACACACACACTCCACACGTCATACACAAACACACTCCACACA TCATACACACACACACTCCACACATCATACACACACTCCATACATTATAC TCACCACACATACTCCACACATCATACACACACTCCATACATTATACTCA CCACACATACTCCACACATCATACACACACACTCCACACATCATACACAA TACACACACACTCCACACATCATACACACCCACTCCACACATCATACACA CACACACACTCCACACATCATACACACACACGCACTCCACACATCATACA CACATACACACACTCCACACCTCATACACATACTCCATACATC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp2 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0002g0271 a0001c0001t0001g0119 a0001c0001t0002g0271	2	378	0.0053	842	c.819 others(859): Show c.819+1433_819+1434insGATGTATGGAGTATGTGTATGAGGTGTG GAGTGTGTGTATGTGTGTATGATGTGTGGAGTGCGTGTGTGTGTATGATG TGTGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGGGTGTGTATGATGTG TGGAGTGTGTGTGTATTGTGTATGATGTGTGGAGTGTGTGTGTATGATGT GTGGAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTG GAGTATGTGTGGTGAGTATAATGTATGGAGTGTGTGTATGATGTGTGGAG TGTGTGTGTGTATGATGTGTGGAGTGTGTTTGTGTATGACGTGTGGAGTG TGTGTGTATGATGTGTGGAGTGTGTGTGCACTGTGTATGATGTGTGGAGT ATGTATGTATTGTGTATGATGTGTGGAGTGTGTTGTCTGATGTGTGGAGT GTTTGTGGTGTGTATGATGTGTGCAGTGTGTGTGTATTGTGTATGATTTA TGGAGTATGTGTGTATGATGTGTGGAGTGTGTGATGTGTGGAGTGTGTGA TGTATGGAGTGTGTGTATGATGTGTGGAGTGTGCGTGGTGTGTATGATGT GTGGAGTGTGTGTGCAGTGTGTATGATGTGTGGAGTGTGTGTGTATGATG TGTGGAGTGTGTGTGTATGATGTGTGGAGTATGTGTGTGTGTATGATGTG TGGAGTGTGTGTGGTGCGTATGATGTAAGGAATGTGTGTATGGTGTGTAT AGTGTGTGGAGTGTGTGTATGATGTGTGGAATGTGTGTGTGTACGATGTG TGGAGTGTGTGTGTGTGTATGATGTGTGGAGTGTGTGTGTATGATGTGTG GAGTGTGTGTGTAT	TCEA3	ENSG00000204219.11	transcript	ENST00000450454.7	protein_coding	8/10			chr1	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(835): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATA TATCATATATATTTATATATTATATAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAATATATATCATATATATTTATATATTAAAAATATATATCATA TATATTTATATATTAAAAATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0001 a0001c0034t0001g0001	1	128	0.0078	842	c.143 others(863): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATATTTATATATTATATAAAAATATATATCATATATATTTATATATTA AAAATATATATCATATATATTTATATATTAAAAATATATATCATATATAT TTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATA TCATATATATTTATATATTAAAAATATATATCATATATATTTATATATTA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPO_chr2_1408463_1548673	1530712	C C	CCCCCCAC others(835): Show CCCCCCACTGTGAGCAAACTCCTCAAATCCCCTCACTGTGTGCCACCTCC CCAAATCCCCCCACTTTCTGCAACCTCCGCAAATACCCCCACTGTGTGCA ACCTCCTCAAATCCCCCCACTCTGTGCAACCTCCCCTATCCCTCCCACTG TGTGCAACCGCCCCAAATCCCCCAACTATATGCAACCTACTCAAATCCCC CCACTGTGTGCAACCTCCCCAAAACCCCCACTGTGAGCAACCTCCCCAAA TCCCCTCACTGTGTAACCTCCCCAAATCCCCTCACTGTGTAACCTCCCAA AATACCCCCCGTGAGCAACCTCCCCAAATCCCCGCACTGTGTGCAACCAC CCCAAATCCCCCCCACTGTGTGCAACCTCCTCAAATCCTCCGCCACTGTG AGCAACCTCCTCAAATACCCCACTGTGTGCAACCTCCTCAAATCCCCCCA TCTGTGTGCGACCTCCCCAAATCCTCCCAGTGTGTGCAACTTCCCTAAAT CCCTCCAACTGTGTTTAGCTTCCCCAAATACCAACTGTGTGCAACCTCCT CACATCCCCACCACTCTGTGCAACCTCTCCAAGTCACCCCTACTCTCTGC AGACTCCCCAAATCCCCCCCCAATCTGTGCAACCTCCCCAAATCCCACCC AATTGTGGGCAACCACACAAAATCCCGCCACTGTGTGCAACCTCACCAAA TTTCTCCCACTCTGGGCAACCTCCCCAAATCCCCCCCACTCTGTGCAACC TCCCAAAATCCCACACACTGTATGCAACCTCCTCAAATCCCCATACTGTG TGCAACCTCCTCAAATCCCCGTACTGTGTGCAACCTCCTAAAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18612.hp2 HG00423.hp1 NA18612.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0096 a0003c0006t0004g0097 a0003c0006t0004g0096 a0003c0006t0004g0097	2	130	0.0154	842	c.261 others(861): Show c.2619-9877_2619-9876insACTGTGAGCAAACTCCTCAAATCCCC TCACTGTGTGCCACCTCCCCAAATCCCCCCACTTTCTGCAACCTCCGCAA ATACCCCCACTGTGTGCAACCTCCTCAAATCCCCCCACTCTGTGCAACCT CCCCTATCCCTCCCACTGTGTGCAACCGCCCCAAATCCCCCAACTATATG CAACCTACTCAAATCCCCCCACTGTGTGCAACCTCCCCAAAACCCCCACT GTGAGCAACCTCCCCAAATCCCCTCACTGTGTAACCTCCCCAAATCCCCT CACTGTGTAACCTCCCAAAATACCCCCCGTGAGCAACCTCCCCAAATCCC CGCACTGTGTGCAACCACCCCAAATCCCCCCCACTGTGTGCAACCTCCTC AAATCCTCCGCCACTGTGAGCAACCTCCTCAAATACCCCACTGTGTGCAA CCTCCTCAAATCCCCCCATCTGTGTGCGACCTCCCCAAATCCTCCCAGTG TGTGCAACTTCCCTAAATCCCTCCAACTGTGTTTAGCTTCCCCAAATACC AACTGTGTGCAACCTCCTCACATCCCCACCACTCTGTGCAACCTCTCCAA GTCACCCCTACTCTCTGCAGACTCCCCAAATCCCCCCCCAATCTGTGCAA CCTCCCCAAATCCCACCCAATTGTGGGCAACCACACAAAATCCCGCCACT GTGTGCAACCTCACCAAATTTCTCCCACTCTGGGCAACCTCCCCAAATCC CCCCCACTCTGTGCAACCTCCCAAAATCCCACACACTGTATGCAACCTCC TCAAATCCCCATACTGTGTGCAACCTCCTCAAATCCCCGTACTGTGTGCA ACCTCCTAAATCCCCC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(835): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATAATATATATA TATATTATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATAA TATATATATATATTATATATATGTGTATATATATAATATATATATATTAT ATATATGTGTATATATATAATATATATATTATATATATGTGTATATATAT AATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATTATATATATGTGTATATATATTATATATATA TATTATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATAATATATATATATTATATATATGTGTATATATATAATATA TATATATTATATATATGTGTATATATATAATATATATATATATTATATAT ATGTGTATATATATAATATATATATATATTATATATATGTGTATATATAT AATATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATATTATATATATGTGTAT ATATATAATATATATATATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0004 a0001c0001t0082g0004	1	352	0.0028	842	c.3+7 others(855): Show c.3+7055_3+7056insTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATTATATATATACACATATATATAATAT ATATATATATTATATATATACACATATATATAATATATATATATATTATA TATATACACATATATATAATATATATATATATTATATATATACACATATA TATAATATATATATATTATATATATACACATATATATAATATATATATAT TATATATATACACATATATATAATATATATATATATTATATATATACACA TATATATAATATATATATATAATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATATTATATATATACACATATATATAATATATATATTATATATA TACACATATATATAATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATATTA TATATATACACATATATATAATATATATATATATTATATATATACACATA TATATAATATATATATATATTATATATATACACATATATATAATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATAATATATATATATATTATATATATACACATATATATAAT ATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(835): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	174	0.0058	842	c.41- others(859): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(835): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0009 a0001c0012t0009	a0001c0012t0009g0096 a0001c0012t0009g0096	1	174	0.0058	842	c.41- others(859): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATTATATCATCATATGATGATATGATACTATTATATCATCATATGA TGATATGATACTATTATATCATCATATGATGATATGATACTATTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(835): Show TCACCATCATCACCACCACCACCACCACCACTACCACTACCATCATAATT ACCACCACCATCACCACCACCACCACCACTATCACCATCATCACCACCAC CACCACCACCACTAGCACAACCACAACACTACCACATCACCACCACCACT ACCACTACTACCATCACCATCACCACCACCATCACCACCACCACCACAAT ACTACCACATCACCACCACCACCATCATCATCACCACCACTACCACCACC ACTACCACCACCACCACCATCACTACTACCATCACCACCACCACCACCAC CACCACCACCACGACCACCACAACACTACCACATCACCACCACCACGACC ACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGCCACCAT CACCACCACATCACCACCACCACCACCACTACTACCACCACCACCACCAT CACCACTACTACCATCACCACTACTACCACCACCACCACCATCACCACCA TCACCACCACCACCACCACCATCACAATCACCACCACCATCACCACCACC ACTACCACCACCACCATCACCATCATCACCACCACCACCAACACTACTGC CACCACCACTATTACCATCACCACCACTACTACCACCACCACTACCATAA CCACCATCATCACCATCACCATCATTACTGCTATTATGACCACCATCACT ACCACCATTATCACCACCACCACTAAACTACCACCACTACCTCACTGCCA TCATCACCATCACCATTACTAACATCACCATTACTAACATCACCATTATA ATACTACCACCATCACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	842	c.24 others(853): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTA GTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGGTGGTGAT GTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAGTGGTGGT GGCAGTGGTGGTCGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGGT GGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGGTGA TGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGT AGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGTG GTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGAT GGTGGTGGTAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTGA TGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(835): Show ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACACACATCACATACCACA CACACATCACATACCACACACAAACCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCAACACACACA TCACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCTACACACACCACACACCCCACACACACATCACACACCACACACAC CACACACACCCCACACACACCACACACACACATCACATACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACCACACAC ACACACCACACACACATCACATACCACACACAAACCACACACCCCCACAC ACCCCACACACCCCACACACACCACACACCCCACACACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCCACACACCCCA CACACCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCTACACACACCACACACCCCACACACACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01123.hp2 others(10): Show HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01358.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp2 HG02886.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0095 others(10): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0095 a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0001g0297 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0201 a0001c0001t0002g0219 a0001c0001t0003g0310	13	338	0.0385	842	c.35 others(861): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACAAACCACACACCCTACACACCCCACACACACCACACACACACAT CACATACCACACACACATCACATACCACACACAAACCACACACCACACAC ACACCACACACCCCACACACACATCACATACCACACACAAACCACACACC CAACACACACATCACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACATCACAC ACCACACACACCACACACACCCCACACACACCACACACACACATCACATA CCACACACCCGACACACGCCACACACACACCACACACCCCACGCACACAT CACATACCACACACAAACCACACACCCTACACACACCACACACCCCACAC ACACCACACACACACACCACACACACATCACATACCACACACAAACCACA CACCCCCACACACCCCACACACCCCACACACACCACACACCCCACACACA CACCACACACCCCACACACACATCACATACCACACACAAACCACACACCC CACACACCCCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCTACACACACCACACACCCCACACACA CCACACACCCGACACACGCCACACACACACCACACACCCCACGCACACAT CACATACCACACACAAACCACACACCCTACACACCCCACACACCCCACAC ACACCACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCHL3_chr13_75544791_75611020	75581694	A A	ATTTTTTT others(835): Show ATTTTTTTTTTTTTTTTTAAGTCTGGATCATTTCTTTTTAGCCTTTACAG CATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGTAATTTAT TCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGAAGGAAAA GTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTTTTTGAAC TGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATATTCAGGAAT TCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAAATTAGTT GACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAATTGGAGC TGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTATATGCTT TGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAACATAATT TAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGATTTCTTTT TTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAGGCGGCAG TGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGGGCTCAAA CCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGCATGTACC ATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGGGTGGGGT CTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTT TCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCACTAACA AAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp1 HG03209.hp2 others(4): Show HG02647.hp2 HG02723.hp1 HG03209.hp2 HG03490.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087	7	326	0.0215	842	c.474 others(861): Show c.474+12203_474+12204insTAAGTCTGGATCATTTCTTTTTAGCC TTTACAGCATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGT AATTTATTCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGA AGGAAAAGTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTT TTTGAACTGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATATT CAGGAATTCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAA ATTAGTTGACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAA TTGGAGCTGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTA TATGCTTTGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAA CATAATTTAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGAT TTCTTTTTTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAG GCGGCAGTGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGG GCTCAAACCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGC ATGTACCATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGG GTGGGGTCTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAG TGATCTTTCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCC ACTAACAAAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA TTTTTTTTTTTTTTTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCHL3_chr13_75544791_75611020	75581694	A A	ATTTTTTT others(835): Show ATTTTTTTTTTTTTTTTTAAGTCTGGATCATTTCTTTTTAGCCTTTACAG CATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGTAATTTAT TCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGAAGGAAAA GTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTTTTTGAAC TGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATGTTCAGGAAT TCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAAATTAGTT GACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAATTGGAGC TGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTATATGCTT TGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAACATAATT TAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGATTTCTTTT TTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAGGCGGCAG TGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGGGCTCAAA CCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGCATGTACC ATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGGGTGGGGT CTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTT TCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCCACTAACA AAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	326	0.0031	842	c.474 others(861): Show c.474+12203_474+12204insTAAGTCTGGATCATTTCTTTTTAGCC TTTACAGCATTTCAAATACGTTGGTTATTTTATTTAAAAGTTTAAAGAGT AATTTATTCATTTTTTGCTGTATAAAAAAGTGCATGCACACTAACTGTGA AGGAAAAGTAATTTGGCCTTTGAGGACGTAGGTGGTGATTGTTGTTGTTT TTTGAACTGGTTTTAAGTTTGACAACCAGAAGATAGATTTGGATTATGTT CAGGAATTCAGATAGAAATAGTAATAGATGTGCCCTTATGAATCAGTCAA ATTAGTTGACAGTTGATGGGCGAGTGACCTTGCAATGGAAAACACTGAAA TTGGAGCTGGGAGTCATGAGTCTGCCTCTGGCTTTCACACTCACTAGTTA TATGCTTTGGCTGTAAACCAAAACCCACTTACTTTATTTTAGAATTTTAA CATAATTTAGATTTAAGCACTTGGAGTACCCACCAAACTAAACACTTGAT TTCTTTTTTTTTTTTTTTTCCTTGAGACAGGGTCCCATTCTGTTGCTCAG GCGGCAGTGCAGTGGGTCGATCTTGGCTCCCTGCAGCCTTGATCTCCTGG GCTCAAACCATCCTTCCACCTCAGCCTCCCAAGTAGCTGAGACCACAGGC ATGTACCATCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGG GTGGGGTCTCCCTATGTTACCCAGGCTGGTCTTGAACTCCTGGGCTCAAG TGATCTTTCTGCCCTGGCCTCCCAAAGTATTGGGATTACAGGTGTGAGCC ACTAACAAAACACTTGACTTCTTCTTAGGCAGACCCTCTGCTTTGTTTGA TTTTTTTTTTTTTTTT	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(835): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTT GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	344	0.0029	842	c.218 others(859): Show c.2182+106_2182+107insGAGGCTGTGGGACGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(835): Show CCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCC TCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCT CCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCT CCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCT CCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCC TTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCTCCTCCTCCCT CCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCC TCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTC CCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTC CTCCCTTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCT CCCCCCTCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCC TCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp2 HG01934.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0083 a0001c0001t0004g0084	2	322	0.0062	842	c.4-1 others(855): Show c.4-1376_4-1375insCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTT CCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTC TCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCT CCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCC TCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTC TCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC TCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCC CTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCCCCTCC CCCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCC TCTCCTCCCCTCCCCCCTCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTT CCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACC TGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCC CTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(835): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCCTTCTTCCTCTC CTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCC CTTCTTCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCTCCCTCCCCTTCCT CCTCTCCTCCTCCCTCCCCCTCCCCCTCCCCTCCCTTCCCTCCTCCCTCC CCCTCCCCTCCCCTTCCTCCTCCCCTTCCCCCCTCCCCTCCCCCTTCCCC TTCCTCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCACCTCCCTCC CCCCTCCCTCCTCTCCCTCTCCCCTCCCCCTTCCCCTCCTCTCCTCCCTC TCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCCCTCCCT TCCCGTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCTCCCCTC CCCCCTCCCCCTCCTCCCTTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCCT CTCCTCCCACCTCCCCCCATCCCCCTCCTCCCCTCTCCCCCTCCCCTCCC CCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTC CCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCT CCTCCCCTCACCTGTCCCTCCCCTCTCCTCCTTCCCCCCCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0193 a0001c0002t0003g0193	1	322	0.0031	842	c.4-1 others(855): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCC TTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCC CTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCTCC CTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCCTCCCCTCCCTTCC CTCCTCCCTCCCCCTCCCCTCCCCTTCCTCCTCCCCTTCCCCCCTCCCCT CCCCCTTCCCCTTCCTCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCT CACCTCCCTCCCCCCTCCCTCCTCTCCCTCTCCCCTCCCCCTTCCCCTCC TCTCCTCCCTCTCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCT CCTCCCTCCCTTCCCGTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCC CCTCTCCCCTCCCCCCTCCCCCTCCTCCCTTCCCCCTCCCCTCCTCCCTC CCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTC CTCTTCCCCCTCTCCTCCCACCTCCCCCCATCCCCCTCCTCCCCTCTCCC CCTCCCCTCCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCC CATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGT CCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCTCCTTCCCCCC CTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(836): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTC CACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCC ATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCC TCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCAC CTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCC CAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACC TCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCT GCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACC CTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCC TGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCC CATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0051 a0001c0001t0040g0051	1	268	0.0037	843	c.-37 others(854): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCT CCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTAC CCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTC TCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCC TCCACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCC CCCTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCT TCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTA CCTCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTC ACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCA CCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCC AACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
ARSF_chrX_3036471_3117727	3037056	T T	TTATATAT others(836): Show TTATATATAATATTATATATAATATATATATTATATATATAAAATATTAT ATATAATATTATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATATTATATATAAAATATATATAATATATA TATTATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATATTATATATAAAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATAATATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATAATATATATAATAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATAAAATATATATAATATATATAATATATAT AATATATATAAAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATAATATATATAATATTATATATAAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG03688.hp1 HG00642.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0025 a0001c0002t0001g0027	2	193	0.0104	843	c.-46 others(854): Show c.-4636_-4635insTATATATAATATTATATATAATATATATATTATA TATATAAAATATTATATATAATATTATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATATTATATATATTATATATAAAATATATATAATAT ATATAATATATATATTATATATAAAATATATATAATATATATATTATATA TAAAATATATATAATATATATAATATATATATTATATATAAAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATAAAATATATATAAT ATATATAATATATATAATATATATAAAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATAATATATATAATATTATATATAAAA TATATATAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4414		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037056	T T	TTATATAT others(836): Show TTATATATAATATTATATATAATATATATATTATATATATAAAATATTAT ATATAATATTATATATAATATATATAATATATATATTATATATAAAATAT ATATAATATATATATTATATATATTATATATAAAATATATATAATATATA TATTATATATATTATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATATTATATATAAAATATATATAAT ATATATAATATATATATTATATATAAAATATATATAATATATATATTATA TATAAAATATATATAATATATATAATATATATATTATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATAATATATATAAAATATATATAA TATATATAATATATATATTATATATAAAATATATATAATATATATAATAT ATATAAAATATATATAATATATATAATATATATATTATATATAAAATATA TATAATATATATAATATATATAAAATATATATAATATATATAATATATAT AATATATATAAAATATATATAATATATATAATATATATATTATATATAAA ATATATATAATATATATAATATATATATTATATATAAAATATATATCATA TATATAATATATATATTATATATAAAATATATATCATATATATAATATAT ATATTATATATAAAATATATATCATATATATAATATATATATTATATATA AAATATATATAATATATATAATATTATATATAAAATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01516.hp2 HG03688.hp1 others(1): Show HG00642.hp1 HG01516.hp2 HG03688.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0173 others(1): Show a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0173 a0001c0002t0002g0204	4	248	0.0161	843	c.36 others(854): Show c.3671_*3672insTATATATAATATTATATATAATATATATATTATA TATATAAAATATTATATATAATATTATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATATTATATATATTATATATAAAA TATATATAATATATATATTATATATATTATATATAAAATATATATAATAT ATATAATATATATATTATATATAAAATATATATAATATATATATTATATA TAAAATATATATAATATATATAATATATATATTATATATAAAATATATAT AATATATATATTATATATAAAATATATATAATATATATAATATATATATT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATAAAATATATATAATATATATAATATATATATTATATATAAAATATATA TAATATATATAATATATATAAAATATATATAATATATATAATATATATAT TATATATAAAATATATATAATATATATAATATATATAAAATATATATAAT ATATATAATATATATAATATATATAAAATATATATAATATATATAATATA TATATTATATATAAAATATATATAATATATATAATATATATATTATATAT AAAATATATATCATATATATAATATATATATTATATATAAAATATATATC ATATATATAATATATATATTATATATAAAATATATATCATATATATAATA TATATATTATATATAAAATATATATAATATATATAATATTATATATAAAA TATATATAA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2946		chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(836): Show ATAGGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG03486.hp1 others(1): Show HG00735.hp1 HG01167.hp2 HG03486.hp1 NA18906.hp2	a0002 a0023 a0002 a0023	a0002c0035 a0023c0029 a0002c0035 a0023c0029	a0002c0035t0001 a0023c0029t0001 a0002c0035t0001 a0023c0029t0001	a0002c0035t0001g0172 a0002c0035t0001g0288 a0023c0029t0001g0183 others(1): Show a0002c0035t0001g0172 a0002c0035t0001g0288 a0023c0029t0001g0183 a0023c0029t0001g0194	4	338	0.0118	843	c.300 others(860): Show c.300-9304_300-9303insGGGCGGGGTGTGTACGGGGCGGGTGAAT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC ATGTGTAGGGGCCGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(836): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCAGGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCAGGGGGAAGGG GGATCCTCATGGGGAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGG AGGGGAGATCCTCAGGGGGAGGGGAGATCCTCAGGGGGAAGGGGGATCCT CAGGGGGAAGGGCATCCTCATGGGGAGGGGGATCCTCATGGGGAGGGGGA TCCTCATGGGGAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAGG GGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTCC TCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGA TCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAGG ATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAG GGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGG GAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAG GCGGAGGGGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAGTGGG GATCCTCCAAGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCATGGGG AGAGGGATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTG GGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0005 a0002c0004t0011g0005	1	58	0.0172	843	c.234 others(864): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCAGGGGGAAGGGCATCCTCATGGGGAG GGGGATCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCATG GGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCAGGGGGAGGGGAGATC CTCAGGGGGAAGGGGGATCCTCAGGGGGAAGGGCATCCTCATGGGGAGGG GGATCCTCATGGGGAGGGGGATCCTCATGGGGAGGGGGATCCTCATGGGG AGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTC ACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAG GGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGG TGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGG GAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCAG GGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCC TCACGGGGAGGGGATCCTCAGGCGGAGGGGGATCCTCCTCAGGGGGAGGG GGGATCCTCACGGGGAGTGGGGATCCTCCAAGGGGAGGGGGATCCTCACG GGGAGGGGGATCCTCATGGGGAGAGGGATCCTCACGGGGAGGGGGATCCT CAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGG GATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(836): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02615.hp1 HG02622.hp1 others(3): Show HG00639.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG03225.hp1 HG03453.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 others(3): Show a0003c0004t0003g0079 a0003c0004t0003g0080 a0003c0004t0003g0081 a0003c0004t0003g0083 a0003c0004t0003g0084 a0003c0004t0003g0085	6	252	0.0238	843	c.-29 others(854): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(836): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT TTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0288 a0001c0001t0028g0287 a0001c0001t0002g0288 a0001c0001t0028g0287	2	336	0.0060	843	c.248 others(860): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(836): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT TTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	336	0.0030	843	c.248 others(860): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(836): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT TTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0225 a0001c0001t0025g0225	1	336	0.0030	843	c.248 others(860): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(836): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT TTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	336	0.0030	843	c.248 others(860): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(836): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAA AGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGT TATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAA TTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGA AAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGAC AAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAA TATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTG GACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGT TTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGA AGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATA TATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTATATATATATATATATATATATATATATATATATATATA TATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTT TTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0030 a0006c0008t0030	a0006c0008t0030g0040 a0006c0008t0030g0040	1	336	0.0030	843	c.248 others(860): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAA CTTCTTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGA ACATTCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGA TGAAGAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACAC CACAAAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATG ACAGATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAA AAGATTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGT GAAATACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTG AGAATGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCT AGAGTAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGA ACCTCCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTC AAATAATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAAT ATTCATGGGCAATACATCCATACTATATATATATATATATATATATATAT ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
COL18A1_chr21_45400165_45518720	45500846	G G	GTGTGTGT others(836): Show GTGTGTGTTGGGTGTGTAGTGTGGGGGTATGGTTTGGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTTTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTG TGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGATTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGG GGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02258.hp2 HG02717.hp2	a0011 a0011	a0011c0040 a0011c0104 a0011c0040 a0011c0104	a0011c0040t0001 a0011c0104t0002 a0011c0040t0001 a0011c0104t0002	a0011c0040t0001g0046 a0011c0104t0002g0003 a0011c0040t0001g0046 a0011c0104t0002g0003	2	292	0.0069	843	c.268 others(862): Show c.2684-3164_2684-3163insGTGTGTTGGGTGTGTAGTGTGGGGGT ATGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT GTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT TTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTA GTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGT GTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGATTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(836): Show TATATAAATATATATAAATATATAAATATATATAAATATATATAAATATA AAAATATATATAAATATATAAATATATATAAATATATATGTAAATATATA AATATATATAAATATATATGTAAATATATAAATATATATAAATAAATATA TATAAATATATATGAATATAAATATATATATAAATATGTAATTATAAATA TATATGTAAATATATATAAATATAAATATATTTATAAATATATAAATATA AATATATTTATAAATATATAAATATATATAAAAATATATATAAATATATA AAAAAATATAAATATATATAAATATATAAATATATGTAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATAAC TATACAAATAAATATATATAAATATATAAATATATAAAAATATATATAAA TATATATGTAAATATATAAATATATATATAAATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAATA TATGCAAATATATATAATATATATATAAATAGATATATAAATAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04115.hp2 HG01358.hp1 HG04115.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0055 a0005c0009t0004g0056 a0005c0009t0004g0055 a0005c0009t0004g0056	2	264	0.0076	843	c.181 others(862): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTATATATATTTGCATATATTTATATATATTTATATATATTTATATATA CTTATATATATTTATATATATTTATATATACTTATATATATTTATATATA TTTATATATACTTATATATATTTATATATATTTATATATACTTATATATA TTTATATATATTTATATATACTTATATATATTTATATATATATTTATATA CTTATATATATTTATATATATTTATATACTTATATATATTTATATATATA TTTATATACTTATATATATTTATATATATATTTATATACTTATATATATT TATATATATTTATATACTTATATATATTTATATATATTTATATATATATT TATATATTTACATATATATTTATATATATTTTTATATATTTATATATTTA TATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATTTACATATATTTATATATTTA TATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTTA TATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATATT TATATATATTTACATATATATTTATAATTACATATTTATATATATATTTA TATTCATATATATTTATATATATTTATTTATATATATTTATATATTTACA TATATATTTATATATATTTATATATTTACATATATATTTATATATATTTA TATATTTATATATATTTTTATATTTATATATATTTATATATATTTATATA TTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1304171	G G	GGCCGAGG others(836): Show GGCCGAGGCGGGAGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGAC CAACGTGGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCAAGTTT GGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGATCACGCCATT GCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAGTAAGTAAG TAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGGCCGGGCACGG TGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGGCAGGCGGATC ACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGGTCAAACCCCA TCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGCGGGCGCCTCT CATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGA GGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAATAATAAATAA AAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTATCTTCCTGTC TCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCTTTCCCAGATC CTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCACTGCCGTCTCT CCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTCTCCTCTTCTG TCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTGGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	159	0.0063	843	c.104 others(860): Show c.1043+163_1043+164insAGGATCACCTGAGGTCGGGAGTTCGAGA CCAGCCTGACCAACGTGGAGAAACCCCGTCTCTATTAAAAATACAAAATT AGCCAAGTTTGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGA TCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAA AGTAAGTAAGTAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGG CCGGGCACGGTGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGG TCAAACCCCATCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGC GGGCGCCTCTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT GAACCCGGGAGGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTC CAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAA TAATAAATAAAAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTA TCTTCCTGTCTCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCT TTCCCAGATCCTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCAC TGCCGTCTCTCCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTC TCCTCTTCTGTCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTG GGAAGCCGAGGCGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1304171	G G	GGCCGAGG others(836): Show GGCCGAGGCGGGAGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGAC CAACGTGGAGAAACCCCGTCTCTATTAAAAATACAAAATTAGCCGAGTTT GGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGATCACGCCATT GCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAGTAAGTAAG TAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGGCCGGGCACGG TGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGGCAGGCGGATC ACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGGTCAAACCCCA TCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGCGGGCGCCTCT CATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGA GGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAATAATAAATAA AAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTATCTTCCTGTC TCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCTTTCCCAGATC CTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCACTGCCGTCTCT CCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTCTCCTCTTCTG TCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTGGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp1 HG01496.hp2 others(1): Show HG00140.hp1 HG01358.hp1 HG01496.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0036 a0001c0001t0003g0133 a0001c0001t0003g0148 others(1): Show a0001c0001t0002g0036 a0001c0001t0003g0133 a0001c0001t0003g0148 a0001c0001t0004g0072	4	159	0.0252	843	c.104 others(860): Show c.1043+163_1043+164insAGGATCACCTGAGGTCGGGAGTTCGAGA CCAGCCTGACCAACGTGGAGAAACCCCGTCTCTATTAAAAATACAAAATT AGCCGAGTTTGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGA TCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAA AGTAAGTAAGTAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGG CCGGGCACGGTGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGG TCAAACCCCATCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGC GGGCGCCTCTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT GAACCCGGGAGGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTC CAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAA TAATAAATAAAAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTA TCTTCCTGTCTCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCT TTCCCAGATCCTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCAC TGCCGTCTCTCCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTC TCCTCTTCTGTCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTG GGAAGCCGAGGCGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1304171	G G	GGCCGAGG others(836): Show GGCCGAGGCGGGAGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGAC CAACGTGGAGAAACCCCGTCTGTATTAAAAATACAAAATTAGCCGAGTTT GGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGATCACGCCATT GCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAGTAAGTAAG TAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGGCCGGGCACGG TGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGGCAGGCGGATC ACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGGTCAAACCCCA TCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGCGGGCGCCTCT CATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGA GGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTCCAGCCTGGGC AACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAATAATAAATAA AAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTATCTTCCTGTC TCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCTTTCCCAGATC CTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCACTGCCGTCTCT CCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTCTCCTCTTCTG TCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTGGGAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	159	0.0063	843	c.104 others(860): Show c.1043+163_1043+164insAGGATCACCTGAGGTCGGGAGTTCGAGA CCAGCCTGACCAACGTGGAGAAACCCCGTCTGTATTAAAAATACAAAATT AGCCGAGTTTGGTGGCGGGTGCCTGTCATCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGCTGCGGTGAGCAGAGA TCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAA AGTAAGTAAGTAAGTAAATAAATAAATTTTACTTTAAAAACTGACCCCGG CCGGGCACGGTGGCTCATGCCTGTAATCGCAGCACTTTGGGAGGCCGAGG CAGGCGGATCACCTGAGGTCAGGAGTTCAAGTCCAGCCTGGCCAACACGG TCAAACCCCATCTCTACTAAAAAATATAAAAATTAGCCGGGCATGGTGGC GGGCGCCTCTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTT GAACCCGGGAGGCGGAGGTTGAGGTGAGCCGAGATCACGCCGTTGCACTC CAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAATAACAATAATAA TAATAAATAAAAAGAGAGAAACACAGCCTGCAGGCACAAAGGTTACGGTA TCTTCCTGTCTCCTGTGGCTTTTGCCTGTAAGGGATGATCCTTTCTGCCT TTCCCAGATCCTGGAGGCTCCCTACGTCCCTGGGCTTGTGGCCGCGTCAC TGCCGTCTCTCCCTCCGTCTCCACGTGACCTCCTCCTCTGTGTCTGTGTC TCCTCTTCTGTCTCTTAGAAGGGCGTCACGCCTGTCATCCCAGCACTTTG GGAAGCCGAGGCGGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232275	T T	TATTACTG others(836): Show TATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCC ACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCAC CACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	396	0.0025	843	c.513 others(858): Show c.513-895_513-894insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATT ACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTAC TACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(836): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATATTAAAAGGTAAACAGAAA TCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAACAGAGAA GATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAATTTTAA CAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATATTTCTT TTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTTTTACAA CTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	419	0.0024	843	c.-51 others(854): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATATTA AAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGT CATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAA TAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGC AAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCT GTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGC TAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCT ATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCA TGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGG CAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(836): Show TTCAAAGTATTTTTTTTTTTTTTTTTTTTTTAAATGAAAATCTATGAAGA AATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTAA AGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTGT TTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGATA AAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAGG GGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGAA TGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCTA CTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATGA AGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACTC ATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAAG GTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGAA TATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGTC CGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATGT GTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACAC ATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGGG CTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCGA CAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02109.hp2 HG02572.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0001 a0001c0001t0009 a0004c0005t0001	a0001c0001t0009g0054 a0004c0005t0001g0055 a0001c0001t0009g0054 a0004c0005t0001g0055	2	378	0.0053	843	c.504 others(860): Show c.504+1229_504+1230insTTTTTTTTTTTTTTTTAAATGAAAATCT ATGAAGAAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACA TTTGTAAAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCA TTACTGTTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAG GATGATAAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCT TTCCAGGGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGA GTTTGAATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGG TCGTCTACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGC TTAATGAAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATA TCTACTCATGTGTGTATATGTATGTGTGTACACACACACACACACATATA TATGAAGGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAG CAAAGAATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAA GAATGTCCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAAT GAGATGTGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCA ACAACACATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAAC CCGTGGGCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGAT GTTCCGACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGG GTCAAAGTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
GAS6_chr13_113815549_113869076	113826410	G G	GGCCTCCT others(836): Show GGCCTCCTGGCACTGGCCTTGCAGGCACCTTCTCTCCCCAGCCTCCCAGC GCCGGCCTTGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGG CTTCGCGGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCA CCTTCTCTCCCCGGCCTCCTGGCACTGGCCTTGCAGGCACCTTCTCTCCC CAGCCTCCCAGCGCCGGCCTTGCAGGCACCTTCTCTCCCCGGCCTCCCGG CGCCAGCCTCGGCTTCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCACTG GCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGC ACCTTCTCTCCCCCGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCC CCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCTG GCACTGGCCTTGCAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCTT GCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCTTCGCAGG CACCTTCTCTCCCCGGCCTCCTGGCACTGGCCTCGCAGGCACCTTCTCTC CCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCCGCCTCCC GGCGCCGGCCTCGCAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCT TGCAGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGCCTCGCAGGCACCT TCTCTCCCCAGCCTCCCAGCGCCGGCCTTGCAGGCACCTTCTCTCCCCGG CCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0125 a0001c0004t0001g0125	1	143	0.0070	843	c.147 others(860): Show c.1477+585_1477+586insTGGGGAGAGAAGGTGCCCGCGAAGCCGA GGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCTG GGAGGCTGGGGAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGG AGAGAAGGTGCCTGCAAGGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTGC CTGCGAGGCCGGCGCCGGGAGGCGGGGGAGAGAAGGTGCCTGCGAGGCCG GCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGG CCGGGGAGAGAAGGTGCCTGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGG GAGAGAAGGTGCCTGCAAGGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTG CCTGCAAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCC GGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAG GCGGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAG AAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCTGC GAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCAAGGC CGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCAGTGCCAGGA GGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGA GAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGG TGCCTGCAAGGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGG CCAGTGCCAGGAGGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(836): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCACTACCACCATCTCCTCCACCACCACCACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACCACCACCACCACCACCATCTCCTTCAACACC ACTACCCCCACCACTACCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCA CCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATC ACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTAC CACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCA CCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACC ATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	274	0.0037	843	c.804 others(860): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGT GGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGG TGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTG ATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGG TAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGTGGTG GTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGA TGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTG GTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGT GATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGG TGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTG AAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTAGT GGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGA TGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(836): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0322 a0001c0001t0003g0322	1	376	0.0027	843	c.666 others(860): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCC TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAGCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(836): Show TAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCTCAC TCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAGGTC AGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAA AAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTGCTA CTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGGCTA CAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGTAAG AATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATAGGCCGG GCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGAGGCGGG CGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCATGGTGAA ACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGGTGCATG CCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCTTGAACC CGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTGCGGTGA GCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAATGAGC CAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGAGATTG CACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00621.hp1 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	408	0.0049	843	c.-30 others(854): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(836): Show ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATAATATATATATT ATATATTATATATTATATATATAATATATATATTATATATTATATATTAT ATATATAATATATATATTATATATTATATATTATATATATTATATATATA TTATATATTATATAATATATATATTTTATATATTATATATATTATATTAT ATATTATATATATAATATATTATATTATATATATTATATAATATATTATA TATTATATATATATTATATAATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATTATATTATATA TAATTATATATATTTTATATATTATATATTATATATTATATATTATATAT TATATATTATATATTATATATTATATATTATATATTATATATTATATATA CAATTATATATATTATATATATTATATATTATATATATTATATATATAAT ATATTATATATATAATATATATTATATATTATATATTATATAATATATTA TATATATAATATATATTATATATTATATATTATATATATAATATATATTA TATATTATATATTATATAATATATTATATATATAATATATATTATATATT ATATTATATAATATATTATATATATAATATATATTATATATTATATATTA TATAATATATTATATATATAATATATATTATATAATATATATTATATATA TATTATATATATAATATATATTATATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	86	0.0116	843	c.683 others(862): Show c.683-81934_683-81933insTATTATATATTATATATTATATATAT AATATATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATATAATATATATATTATATATTATATATTATATATATAATAT ATATATTATATATTATATATTATATATATAATATATATATTATATATTAT ATATTATATATATTATATATATATTATATATTATATAATATATATATTTT ATATATTATATATATTATATTATATATTATATATATAATATATTATATTA TATATATTATATAATATATTATATATTATATATATATTATATAATATATT ATATATAATTATATATATTTTATATATTATATATTATATATTATATATTA TATATTATATATTATATTATATATAATTATATATATTTTATATATTATAT ATTATATATTATATATTATATATTATATATTATATATTATATATTATATA TTATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATATAATATATTATATATATAATATATATTATAT ATTATATATTATATAATATATTATATATATAATATATATTATATATTATA TATTATATATATAATATATATTATATATTATATATTATATAATATATTAT ATATATAATATATATTATATATTATATTATATAATATATTATATATATAA TATATATTATATATTATATATTATATAATATATTATATATATAATATATA TTATATAATATATATTATATATATATTATATATATAATATATATTATATA ATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(836): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATATTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATTTTTATATATATAGTTATATATATATATTTTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTATA TATATTTATATATATTTATATATATATTTATATATTTATTTATATATATT TATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATA TTTATATATATTTATATATATATATATAAATATATTTATATATATAAATA TAAATATTTATATATATTTATATATATTTATATATATATTTATGTATATT TATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	260	0.0039	843	c.125 others(860): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATATTTTTA TATATATTTATATATATTTTTATATATATTTATATATATTTATATATAGT TATATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGT TATGTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATTTATATA TATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATA TATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATATATATAAATA TATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATA TATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATT TATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(836): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATATATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTAATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATATATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATTTATATATATAGTTATATATTTTA TATATTTATATATATTTATATATATATTTATATATTTATTTATATATATT TATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATA TTTATATATATTTATATATATATATATAAATATATTTATATATATAAATA TAAATATTTATATATATTTATATATATTTATATATATATTTATGTATATT TATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0260 a0003c0003t0002g0260	1	260	0.0039	843	c.125 others(860): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATATATATATTTATATATATT TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTAATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTAT ATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTAT ATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTT ATATATAGTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATAT ATAGTTATATATATATATTTTTATATATATAGTTATATATATATTTATAT ATATAGTTATATATTTTATATATTTATATATATTTATATATATATTTATA TATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATATATATAAATA TATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATA TATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATT TATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(836): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAG CAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCA GAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	843	c.-42 others(854): Show c.-4292_-4291insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTG CCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCAGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCGTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCCAT AATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATGTA TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 NA19072.hp1 HG02080.hp2 HG02132.hp1 NA19072.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0003c0006t0010 a0001c0001t0002 a0001c0001t0003 a0003c0006t0010	a0001c0001t0002g0049 a0001c0001t0003g0209 a0003c0006t0010g0008 a0001c0001t0002g0049 a0001c0001t0003g0209 a0003c0006t0010g0008	3	230	0.0130	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCC TTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAA GGAAATATATATCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCTG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCGTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCCAT AATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATGTA TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATA ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	230	0.0044	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATTATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCC TTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAA GGAAATATATATCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCGTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCCAT AATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATGTA TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18979.hp1 NA19003.hp1 NA18955.hp1 NA18979.hp1 NA19003.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0018 a0001c0001 a0014c0018	a0001c0001t0001 a0001c0001t0003 a0014c0018t0003 a0001c0001t0001 a0001c0001t0003 a0014c0018t0003	a0001c0001t0001g0154 a0001c0001t0003g0118 a0014c0018t0003g0161 a0001c0001t0001g0154 a0001c0001t0003g0118 a0014c0018t0003g0161	3	230	0.0130	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCC TTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAA GGAAATATATATCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCACGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCAAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp1 HG02818.hp1 HG03516.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0044 a0001c0013t0003 a0001c0013t0044	a0001c0013t0003g0139 a0001c0013t0044g0225 a0001c0013t0003g0139 a0001c0013t0044g0225	2	230	0.0087	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTTGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCAAACTTGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01261.hp1 others(9): Show HG01069.hp2 HG01071.hp2 HG01261.hp1 HG02145.hp1 HG02615.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG03225.hp1 NA19043.hp2 NA20300.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0019	a0001c0001 a0003c0006 a0009c0012 others(1): Show a0001c0001 a0003c0006 a0009c0012 a0019c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0031 a0001c0001t0045 a0003c0006t0010 a0009c0012t0004 a0009c0012t0012 a0019c0022t0038	a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0003g0168 others(9): Show a0001c0001t0001g0162 a0001c0001t0002g0012 a0001c0001t0003g0168 a0001c0001t0005g0017 a0001c0001t0007g0077 a0001c0001t0011g0090 a0001c0001t0031g0086 a0001c0001t0045g0224 a0003c0006t0010g0013 a0009c0012t0004g0194 a0009c0012t0012g0187 a0019c0022t0038g0144	12	230	0.0522	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTTGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02896.hp1 others(2): Show HG01243.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0011 a0001c0002t0014 a0001c0002t0001 a0001c0002t0011 a0001c0002t0014	a0001c0002t0001g0097 a0001c0002t0011g0181 a0001c0002t0011g0182 others(2): Show a0001c0002t0001g0097 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0011g0223 a0001c0002t0014g0014	5	230	0.0217	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCTGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	230	0.0044	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCAGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(836): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTCTAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TGGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATAAAAT TTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCCCAAA GGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAGAAGA ATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATCCTAC CTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTAGATC ATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03098.hp2 HG03471.hp1 others(1): Show HG02257.hp1 HG03098.hp2 HG03471.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0004c0005t0041	a0001c0001t0001g0128 a0001c0001t0002g0050 a0001c0001t0014g0016 others(1): Show a0001c0001t0001g0128 a0001c0001t0002g0050 a0001c0001t0014g0016 a0004c0005t0041g0096	4	230	0.0174	843	c.213 others(862): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACATACATACATACATATCTGTGTGACTGTTAGCCTT CCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAAAAGG AAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCACTTCC CAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACA GGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGATGGG GTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGATCCG CCCTCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCACGAGCCACCACGT AGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCTCCCT GCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATATCAG CAACTAGAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTCTAGG ACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(836): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGA GAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGA GAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGA GGGGGAAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGG GAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGG GAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGG AGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGC AGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGA GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGG GAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAG AAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAG AAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAG GGGGAAAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	280	0.0036	843	c.641 others(858): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCC TCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCC TCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTC TCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACT CTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCC CTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTAC TGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCC TCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCT CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCC CTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCC CCTTCTCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar

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