Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(613): Show TCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	295	0.0034	620	c.126 others(639): Show c.1265+3387_1265+3388insGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RIN3_chr14_92508781_92693994	92547347	C C	CTTTATTT others(613): Show CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTA TTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATTATCTTTATTTT ATTATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATT ATAAAATAAATTATCTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAATAAATTATCTTTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0053 a0003c0003 a0008c0053	a0003c0003t0004 a0008c0053t0001 a0003c0003t0004 a0008c0053t0001	a0003c0003t0004g0199 a0008c0053t0001g0200 a0003c0003t0004g0199 a0008c0053t0001g0200	2	334	0.0060	620	c.45- others(635): Show c.45-8398_45-8397insTTATTATTATAAAATAAATTATCTTTATTT TATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTAT CTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAA TAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATTA TAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTT TATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTAT TTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTT ATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATA AATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAA TTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCT TTATTTTATTATTATAAAATAAATTATCTTTATTATTATAAAATAAATTA TCTTTATTTTATTATTATAATAAATTATCTTTATTTTATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	170	0.0059	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02965.hp1 HG01257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0066 a0001c0001t0026g0119 a0001c0001t0001g0066 a0001c0001t0026g0119	2	170	0.0118	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATACACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(613): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATATATATATATATATATATATAATTTTACAA CTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0155 a0001c0001t0029g0155	1	170	0.0059	620	c.59- others(637): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATACACACACACA CACACACACACACACACATATACATACACATATATATGTGTGTATATATA CATGTATATATATGTATGTATATATGTGTATATATACATGTATATATGTA TGTATATATACGTGTATATTATGTATATATATACACATGATATATATGTA TGTATATATCATGTATATATATACATATATGTGTATATATACACGATATA TATGTGTATATATCATGTATATATATACATGTATACAATATATTATATAT ACATATATATTATATACATGTATATATACCTGTATACAATATATTATATA TACGTGTATATAATATATATACACGTATATATATTGTATACACGTATATA TAATATATACTTTATATATAATATATACATGTATATATATACTATATATT ATATATTAATATATACATGTATAATATATACATGTATATATTATATATAC ATATATATGTATATATAATATATACATATATGTACATATAATATACATGT CTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0050 a0002c0001t0001g0050	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0192 a0002c0001t0001g0192	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00621.hp1 others(33): Show HG00140.hp1 HG00408.hp1 HG00621.hp1 HG00733.hp1 HG01099.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG02027.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18949.hp2 NA18986.hp2 NA18992.hp2 NA18997.hp1 NA19001.hp2 NA19007.hp1 NA19012.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0014t0001 a0003c0003t0001 a0003c0014t0001	a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0008 others(25): Show a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0010 a0003c0003t0001g0012 a0003c0003t0001g0047 a0003c0003t0001g0055 a0003c0003t0001g0062 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0075 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0093 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0099 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0014t0001g0071	36	378	0.0952	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCTATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0061 a0003c0003t0001g0061	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCTATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0111 a0003c0003t0001g0111	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03041.hp2 others(1): Show HG02280.hp1 HG02615.hp2 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0009t0001 a0001c0005t0001 a0001c0009t0001	a0001c0005t0001g0328 a0001c0005t0001g0331 a0001c0005t0001g0332 others(1): Show a0001c0005t0001g0328 a0001c0005t0001g0331 a0001c0005t0001g0332 a0001c0009t0001g0335	4	378	0.0106	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCAC ACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0155 a0001c0005t0001g0155	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(613): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0321 a0001c0013t0001g0321	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980139	T T	TCCATCCA others(613): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATC CATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCA CACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACC CACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCA TCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATC CATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCA TCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATC CACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTA TCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCA TCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCA TCCACCCACCCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0088 a0003c0003t0001g0088	1	378	0.0027	620	c.937 others(637): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCT ACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(613): Show GGGGGGTTGGGTGGGGGGTTGGGGGGTTGGGTGAGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTT TGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTT GGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGTGAGGGGG GTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGAGTGAG GGGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTTGGGGGGGTTG GGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGG TGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	620	c.464 others(633): Show c.464+91_464+92insTGGGGGGTTGGGGGGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTTGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTG GGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGTTG AGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGT GAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTT GAGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGTTGGGTGAGGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976595	G G	AGGGTCCC others(613): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCCA GAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0059 a0003c0001t0059	a0003c0001t0059g0024 a0003c0001t0059g0024	1	116	0.0086	620	c.199 others(639): Show c.1994+2049_1994+2050insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14766229	T T	TGATTACA others(613): Show TGATTACAGGCATGAGGCATGGCCCCCAGCCAGATAGGCATATTTTTAAG GAAATGCTATTAAATATGGAAAAATAAATATATATATATTATAAGGGTGA CTTGGGGTATAGTTTAGCCAGATTGTATATAATTCTGGAGAAATGTAACT CAAAAGAATTTGTTTACTTATTGGATCTTGTTCTAAATGATGAACGTCTT AAAGATAGGATTATATCTTCAAGATAATACGTTTCTAACAAAATTGCTGA CTTACACAAACTCAACAGATGTTTGTTTAATCAAAAAGACAATAATACTT AATCCATTTTTAGTTTTATTACTTTTAAAAATATATATATTTTTTCTTCT TTAGACAGTGTTTCATTCTGTCACCCAGGCTGGAGTGCAGTACTGCGATC TCGGCTCACTGCAATTTCCACCTCCCAGGCTCAAGCGATTCTTTCACCAC AGCCTCCCAAGTAGCTGGGACCACAGGCACCTGTCACCATGTCCAGCTAT TTTTTTTTTTTTTTTTTTTTTTTGTATTTTTGGGAGAGATGGGGTTTTGC CACGTTGCCCAGGCTGGTCTCCATCTACTGAGCTCAAACAGTCTGCCCGC CTCGGCCTCCTAAAGTGCTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0065 a0001c0001t0048 a0001c0001t0065	a0001c0001t0048g0051 a0001c0001t0065g0047 a0001c0001t0048g0051 a0001c0001t0065g0047	2	102	0.0196	620	c.40- others(639): Show c.40-211304_40-211303insCCAGCACTTTAGGAGGCCGAGGCGGG CAGACTGTTTGAGCTCAGTAGATGGAGACCAGCCTGGGCAACGTGGCAAA ACCCCATCTCTCCCAAAAATACAAAAAAAAAAAAAAAAAAAAAAAATAGC TGGACATGGTGACAGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGTGGT GAAAGAATCGCTTGAGCCTGGGAGGTGGAAATTGCAGTGAGCCGAGATCG CAGTACTGCACTCCAGCCTGGGTGACAGAATGAAACACTGTCTAAAGAAG AAAAAATATATATATTTTTAAAAGTAATAAAACTAAAAATGGATTAAGTA TTATTGTCTTTTTGATTAAACAAACATCTGTTGAGTTTGTGTAAGTCAGC AATTTTGTTAGAAACGTATTATCTTGAAGATATAATCCTATCTTTAAGAC GTTCATCATTTAGAACAAGATCCAATAAGTAAACAAATTCTTTTGAGTTA CATTTCTCCAGAATTATATACAATCTGGCTAAACTATACCCCAAGTCACC CTTATAATATATATATATTTATTTTTCCATATTTAATAGCATTTCCTTAA AAATATGCCTATCTGGCTGGGGGCCATGCCTCATGCCTGTAATC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(613): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAGGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GAGAAGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGG AGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAG GAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAA GAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGA GGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAA GGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG03654.hp2 HG00140.hp1 HG00642.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165	3	350	0.0086	620	c.624 others(635): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCTTCCCT CCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCT CCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTC CCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCC CCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTC TATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTT TCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMYD3_chr1_245744347_246512279	246389626	T T	TGGGGACC others(613): Show TGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTT GAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAT CACCTCAAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTC ATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTG TAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTG GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCA CCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAGCATTCA TTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGT AGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGG GGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAA GTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCAC CTCGAGGTTGAAGTCAGTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	150	0.0067	620	c.165 others(639): Show c.165-34533_165-34532insGAAACTGACTTCAACCTCGAGGTGAT TTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAA CCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGA AACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAG GAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAAT GCTTTCTACAAGGAGGTCCCCTAGAAACTGACTTCAACCTCGAGGTGATT TTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAAC CTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAA ACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGG AGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATG CTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTTGAGGTGATTTT CAAGAATGAATGCTTTCTACAAGGAGGTCCCCAGAAACTGACTTCAACCT CGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965324	A A	ACCCCAAT others(613): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAA TCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0001 a0021c0030t0001	a0021c0030t0001g0160 a0021c0030t0001g0160	1	190	0.0053	620	c.72+ others(637): Show c.72+14291_72+14292insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATC CTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGT CCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTC CTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCC CAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTC CTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTG GTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCC TCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827118	T T	TATATTAT others(613): Show TATATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACATATATTA TAGTTTATATAATATATAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	302	0.0033	620	c.12+ others(635): Show c.12+3676_12+3677insTATAGTTTATATAATATATAAACATATAGT TTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACATATATTATAGTTTATATAATATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGCGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA19077.hp2 NA18994.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGCGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTGTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA19063.hp2 NA18951.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTGTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18988.hp1 NA19065.hp1 NA18986.hp2 NA18988.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	420	0.0071	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(613): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(144): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008	147	420	0.3500	620	c.35 others(631): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(613): Show ATATAGTATTATATATTTTATATACAGTATATATAATATATAGTATTATA TATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAGTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATATATTTTATATATAGTATATATATTATATAGT ATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATATTATATATAGTATATATTTTATATATA GTATATATATTATGTATAGTATATATATTATATATAGTATATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATGTATAGTATTATATATTTTATATATAGTATATATATTATGTATAGTA TTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0259 a0013c0020t0001g0260 a0013c0020t0001g0259 a0013c0020t0001g0260	2	268	0.0075	620	c.291 others(639): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATAATATATAGTATTATATATTTTATATATAGTATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATATATTTTAT ATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATATT ATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATATTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATATTAT ATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATATATA TTATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATA TATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATA TAGTATATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(613): Show ATATAGTATTATATATTTTATATACAGTATATATAATATATAGTATTATA TATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAGTA TATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATAT AGTATATATATTATATATATATTTTATATATAGTATATATATTATATAGT ATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATATTATATATAGTATATATTTTATATATA GTATATATATTATGTATAGTATATATATTATATATAGTATATATTTTATA TATAGTATATATATTATGTATAGTATATATTTTATATATAGTATATATAT TATGTATAGTATTATATATTTTATATATAGTATATATATTATGTATAGTA TTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0126 a0006c0008t0001g0126	1	268	0.0037	620	c.291 others(639): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATAATATATAGTATTATATATTTTATATATAGTATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATATATTTTAT ATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATATT ATATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATATTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATATTAT ATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATATATA TTATATATAGTATATATTTTATATATAGTATATATATTATGTATAGTATA TATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATA TAGTATATATATTATGTATAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(613): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGC CTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTG CCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	356	0.0028	620	c.245 others(637): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGC ATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG GTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(613): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCC TGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTG CCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01261.hp1 others(1): Show HG00741.hp2 HG01175.hp2 HG01261.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0089 others(1): Show a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090	4	356	0.0112	620	c.245 others(637): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTGGGATTACAGGCA TGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAG GTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(613): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG ACAGCGGGGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTG GGAGGGGTGGGAGAACGGGGTGGGGGTGGGACGGGGGTGGGAGAACGGGG TGGGAGCGAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTG GGGGTGAGAGCGGGGTGGGAGAACGGGGAGAGAGAGGGGTGGGGGAATGG GGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTCGGGGAACGGGG TGAGAGCGGGGTGGGGGAACGGGAAGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGAGAGCGGG GTGGGAGAACGGGGTGGGAGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0355 a0001c0001t0003g0355	1	364	0.0028	620	c.157 others(639): Show c.1576+1490_1576+1491insGCTCCCACCCCGTTCTCCCACCCCGC TCTCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTTCCCGTTCCCCCACCCCGCTCTCACCCCG TTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCCCATT CCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCTCTCACCCCCACCC CGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCG TTCTCCCACCCCCGTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCC TGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCAC CCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCC CCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBCD_chr17_82747065_82950914	82764813	C C	CTGTGCTC others(613): Show CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0232 a0001c0002t0022g0232	1	318	0.0031	620	c.333 others(635): Show c.333+795_333+796insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCT TACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTT TTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACA AGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTG TCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(613): Show ACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	392	0.0026	620	c.228 others(639): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(613): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGTCA CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	392	0.0026	620	c.228 others(639): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTAGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(613): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCT CTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCT TTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	256	0.0039	620	c.924 others(637): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGA GAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(613): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCT CTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	256	0.0039	620	c.924 others(637): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(613): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCCTCTCTGTC TCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTC TCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTC TCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTC TGTCTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTC TGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTC TCTCTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTC TGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTC TCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTC TCTCTGTTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	256	0.0039	620	c.924 others(637): Show c.924-2424_924-2423insGACAGAGAGAGAGAACAGAGAGAGAGAG ACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAG AGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAG AGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAG AGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAG ACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAG AGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAG ACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAG AGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAG AGGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415743	C C	CTCTCTCT others(613): Show CTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCTCTCTCTCT CTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0099 a0001c0003t0003g0099	1	256	0.0039	620	c.924 others(637): Show c.924-2428_924-2427insCAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAAAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA GAGACAGAGAGAGAAAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(613): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCCCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCC TCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCT CTTCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03098.hp2 HG01943.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0279 a0001c0001t0006g0280 a0001c0001t0006g0279 a0001c0001t0006g0280	2	384	0.0052	620	c.424 others(637): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCT CCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTC TCCTCCTCCTCTTCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(613): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCTGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCC TCCTCCACTTCTCTTTCTCCTCCTCCCTCCTCTCCTCCTCCTCCCCTCCT CTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTC TTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0327 a0001c0001t0009g0327	1	384	0.0026	620	c.424 others(637): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCTGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCTCCTCTCCTCCTC CTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCT CCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOX_chr8_58800412_59124147	59092319	A A	ATTATATA others(613): Show ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACATTATATATATTATATATTATGTATACATTATATATAT TATATATTATGTATACATTATATATATTATATATTATGTATACATTATAT ATATTATATATTATGTATACATTATATATATTATATATTATGTATACATT ATATATTATATATTATGTATACATTATATATATTATATATTATGTATACA TTATATATATTATATATTATGTATACATTATATATATTATATATTATGTA TACATTATATATATTATATATTATGTATACATTATATATATTATATATTA TGTATACATTATATATATTATATATTATGTATACATTATATATATTATAT ATTATGTATACATTATATATATTATATATTATGTATACATTATATATATT ATATATTATGTATACATTATATATATTATATATTATGTATACATTATATA TATTATATATTATGTATACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02486.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02486.hp1 HG02965.hp1 HG03516.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0192 a0001c0001t0003g0168 a0001c0001t0003g0169 others(3): Show a0001c0001t0002g0192 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0190 a0001c0001t0003g0191	6	224	0.0268	620	c.102 others(639): Show c.102+26566_102+26567insATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATACATAATATATAATAT ATATAATGTATACATAATATATAATATATATAATGTATACATAATATATA ATATATATAATGTATACATAATATATAATATATATAATGTATACATAATA TATAATATATATAATGTATACATAATATATAATATATATAATGTATACAT AATATATAATATATATAATGTATACATAATATATAATATATATAATGTAT ACATAATATATAATATATATAATGTATACATAATATATAATATATAATGT ATACATAATATATAATATATATAATGTATACATAATATATAATATATATA ATGTATACATAATATATAATATATATAATGTATACATAATATATAATATA TATAATGTATACATAATATATAATATATATAATGTATACATAATATATAA TATATATAATGTATACATAATATATAATATATATAATGTATATATAATAT ATAATATATATAATGTATATATAATATATAATATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507129	C C	CATACGTA others(613): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATATATGTATATATACATGTATTATACATACGTAAATGTATAATGTA TATATACATGTATTATACATACGTAAATGTATAATGTATATATACATTAT ACATACGTAAATGTATAATGTATAATGTATATATACATTATACATACGTA AATGTATAATGTATATATACATTATACATACGTAAATGTATATATATACA TTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0205 a0001c0001t0001g0028 a0001c0001t0001g0205	3	388	0.0077	620	c.-23 others(637): Show c.-23+2918_-23+2919insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATACATGTATATATACATTA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATATACATTTACG TATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTGGG others(613): Show CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	344	0.0029	620	c.218 others(637): Show c.2182+106_2182+107insGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTGGG others(613): Show CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG GGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAG GCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0258 a0001c0003t0019g0258	1	344	0.0029	620	c.218 others(637): Show c.2182+158_2182+159insGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGGGGAGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(613): Show CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGGTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0256 a0001c0003t0003g0256	1	344	0.0029	620	c.218 others(637): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(613): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	408	0.0025	620	c.53+ others(635): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
WDR7_chr18_56646359_57034792	57024899	A A	AACTATGA others(613): Show AACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAG GCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGT TATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTA TGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGG AATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACAT ATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGT CCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATG TGAACTATGGTAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTC AGGCAGGAATAGGGATACGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	144	0.0069	620	c.427 others(639): Show c.4270-2071_4270-2070insTATCCCTATTCTCAGGCAGGAATAGG GATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTA TAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACT ATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGACAG GAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACA TATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATG TCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATAT GTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCT CAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTACAGGA TTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGT AGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCAGGCAGGAATA GGGATACGTGACTATGATAGTTATGTCCCTTATAGAATTTCACA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(613): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCGCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTC CCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	246	0.0041	620	c.-10 others(637): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCGCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF236_chr18_76817557_76977901	76926805	A A	ATATAGTA others(613): Show ATATAGTATAAAGGGTGATTACACAGTGTGTGTGTGTGTATGGTATAAAG GGTGATTAGACAGTGTATATGTGTGTGTGTATGGTATAAAGGGTGATTAG ACAGTGTATATGTGTGTGTGTATGGTATAAAGGGTGATTAGACTGTGTGT ATGGTATAAACGGTGATTAGACTGTGTGTATGATATAAAGGGTGATTAGA CAGTGTGTGTATATGGTATAAAGGGTGATTAGACAGTGTGTGTGTGTATG GTATAAAGGGTGATTAGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGATCGACGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA AATTACCCAGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCAGGAGG GTGAGGGAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCT GAGATGGCACCACTGCACTCTAGTCTGGGCGACTGAGCGAGAGACTGTCT CAAAAAAAAAAAAAGGGTGATTAGACAGTGTGTGTGTATGGTATAAAGGG TGATTAGACAGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00609.hp1 others(28): Show HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02523.hp1 HG02698.hp1 HG02965.hp2 HG03486.hp1 NA18612.hp2 NA18950.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19080.hp2 NA19088.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0018 a0001 a0002 a0018	a0001c0032 a0002c0004 a0002c0019 others(1): Show a0001c0032 a0002c0004 a0002c0019 a0018c0047	a0001c0032t0004 a0002c0004t0004 a0002c0019t0004 others(1): Show a0001c0032t0004 a0002c0004t0004 a0002c0019t0004 a0018c0047t0004	a0001c0032t0004g0211 a0002c0004t0004g0118 a0002c0004t0004g0150 others(28): Show a0001c0032t0004g0211 a0002c0004t0004g0118 a0002c0004t0004g0150 a0002c0004t0004g0209 a0002c0004t0004g0220 a0002c0004t0004g0221 a0002c0004t0004g0222 a0002c0004t0004g0223 a0002c0004t0004g0224 a0002c0004t0004g0225 a0002c0004t0004g0226 a0002c0004t0004g0227 a0002c0004t0004g0228 a0002c0004t0004g0229 a0002c0004t0004g0230 a0002c0004t0004g0231 a0002c0004t0004g0232 a0002c0004t0004g0233 a0002c0004t0004g0235 a0002c0004t0004g0236 a0002c0004t0004g0238 a0002c0004t0004g0293 a0002c0004t0004g0294 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0300 a0002c0004t0004g0303 a0002c0004t0004g0345 a0002c0019t0004g0096 a0002c0019t0004g0216 a0018c0047t0004g0297	31	346	0.0896	620	c.402 others(637): Show c.4028-229_4028-228insAGTATAAAGGGTGATTACACAGTGTGTG TGTGTGTATGGTATAAAGGGTGATTAGACAGTGTATATGTGTGTGTGTAT GGTATAAAGGGTGATTAGACAGTGTATATGTGTGTGTGTATGGTATAAAG GGTGATTAGACTGTGTGTATGGTATAAACGGTGATTAGACTGTGTGTATG ATATAAAGGGTGATTAGACAGTGTGTGTATATGGTATAAAGGGTGATTAG ACAGTGTGTGTGTGTATGGTATAAAGGGTGATTAGGGCCGGGTGTGGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATCGACGGATCACG AGGTCAGGAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAAATTACCCAGGTGTGGTGGCTGGCGCCTGTAG TCCCAGCTACTCAGGAGGGTGAGGGAGGAGAATGGTGTGAACCTGGGAGG CGGAGCTTGCAGTGAGCTGAGATGGCACCACTGCACTCTAGTCTGGGCGA CTGAGCGAGAGACTGTCTCAAAAAAAAAAAAAGGGTGATTAGACAGTGTG TGTGTATGGTATAAAGGGTGATTAGACAGTATGTGTGTGTAT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	22/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(614): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCC CTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCT TCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTC CTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCT GTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCC CTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01256.hp1 HG01258.hp1 HG00099.hp2 HG01256.hp1 HG01258.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0010 a0010c0010t0010	a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146 a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146	3	262	0.0115	621	c.106 others(640): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGA AGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGG GAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG GAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAA GAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar

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Search Results (Total: 10000 hits)