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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(507): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACC TCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	252	0.0040	514	c.10- others(531): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCCCCCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(507): Show CGCCCCCACAGCCGCCCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCACCCCCCACAGCCGCCCCCCACAGCCG CCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAG CTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	312	0.0032	514	c.-41 others(529): Show c.-41+629_-41+630insCCCCCACAGCTGCCCCCCCCACAGCCGCCC CCCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACC CCCCAAAGCCACCTCCCCACAGCCACCCCCCACAGCCGCCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(507): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATTTATATATATATTTATATATTTATATATAT ATTTATATATTTATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	1	242	0.0041	514	c.174 others(533): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATATTT ATATATTTATATATATATTTATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LOC102723971_chr9_135609183_135624893	135619921	A A	ATCTCCCC others(507): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCTCCCCCTTTTCCCC CTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCT CCCCCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCC TTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTC CCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACT CCCCCGTCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	514	c.96 others(523): Show c.969_*970insTCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTT CTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCC CTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACT CCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCC TACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCT CTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCT CCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCA GTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTC CCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTCCCCCG TCTCCCCCGTCTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCC TTCCCCCTCTACTCCCCCGTCTCCCCCG	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		29		chr9	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAAAG others(507): Show AAAAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA GGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTA ACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGC GCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTG AATTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCC CATCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGG GCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCA CTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0203 a0001c0005t0001g0203	1	212	0.0047	514	c.363 others(531): Show c.3638-628_3638-627insAAGCCAGGTGTGGTGGCTCACACCTGTA ATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGAT TGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGG CTAACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGAT CGCTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRP5_chr11_68307591_68454275	68428943	A A	AAAAAGCC others(507): Show AAAAAGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG CTGAGGCAGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTATGGCCGGGCGC AGTGGCTCCCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGAA TTACAAGGTCAAGAGATCGAGACCATCTTGGCTAACACGGTGAAACCCCA TCAAGATCACAAGGTCAAGAGATGGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTAGCGGGC GCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCGCTCCATGCCACTGCACT CCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0004 a0003c0012t0001g0004	1	212	0.0047	514	c.363 others(531): Show c.3638-628_3638-627insGCCAGGTGTGGTGGCTCACACCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATTG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTATGGCCGGGCGCAGTGGCTCCCGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGTGGGTGAATTACAAGGTCAAGAGATCGAGACCATCTTGGCT AACACGGTGAAACCCCATCAAGATCACAAGGTCAAGAGATGGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCATGGTAGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCGGTGAGCCGAGATCG CTCCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAA	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LUC7L_chr16_183990_234449	186170	G G	GGAGGAAC others(507): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	350	0.0029	514	c.30 others(525): Show c.3027_*3028insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2819		chr16	TogoVar
MED16_chr19_862963_898187	878559	C C	CCAGCCCC others(507): Show CCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCTGGTTGTCAATGCCCA CCAGCCCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCTGGCTGTCAA TGCCCACCAGCCCCAGCAGCTCACCTTCCCCTGGCTGTCAATCCCCACCA GGGCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCGTGGTTGTCAATGC CCACCAGCCCCAGCCCCACATGCCCCAGCAGCTCACCTTCCCCTGGTTGT CAATGCCCACCAGCCCCAGCCCCACGTGCCCCAGCAGCTCACCTTCCCCT GGTTGTCAATGCCCACCAGCCCCAGCCCCACGTGCCCCAGCAGCTCGCCT TCCCCTGGTTGTCAATGCCCAGCAGCTCGCCTTCCCGTGGTTGTCAATGC CCACCAGCCCCAGCCCCACGTGCCCCAACAGCTCACCTTCCCCTGGTTGC CAATGCCCACCAAGCCCAGCCCCACATGCCCCAGCAGCTCACCTTCCCCT GGTTGTCAATGCCCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18973.hp2 NA19007.hp1 HG00673.hp2 NA18973.hp2 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0001 a0001c0002t0001 a0002c0008t0001	a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0026 a0002c0008t0001g0018	3	56	0.0536	514	c.135 others(533): Show c.1353+1377_1353+1378insTGGGCATTGACAACCAGGGGAAGGTG AGCTGCTGGGGCATGTGGGGCTGGGCTTGGTGGGCATTGGCAACCAGGGG AAGGTGAGCTGTTGGGGCACGTGGGGCTGGGGCTGGTGGGCATTGACAAC CACGGGAAGGCGAGCTGCTGGGCATTGACAACCAGGGGAAGGCGAGCTGC TGGGGCACGTGGGGCTGGGGCTGGTGGGCATTGACAACCAGGGGAAGGTG AGCTGCTGGGGCACGTGGGGCTGGGGCTGGTGGGCATTGACAACCAGGGG AAGGTGAGCTGCTGGGGCATGTGGGGCTGGGGCTGGTGGGCATTGACAAC CACGGGAAGGTGAGCTGCTGGGGCACGTGGGGCTGGCCCTGGTGGGGATT GACAGCCAGGGGAAGGTGAGCTGCTGGGGCTGGTGGGCATTGACAGCCAG GGGAAGGTGAGCTGCTGGGGCACGTGGGGCTGGGGCTGGTGGGCATTGAC AACCAGGGGAAGGTGAGCTGCTGGGGCACGTGGGGCTG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	8/15			chr19	TogoVar
MROH1_chr8_144143016_144266926	144203089	G G	GGGGGAGC others(507): Show GGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTG TCTGTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGG AGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGT GGAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGC CCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGG GGCTGGGAAGGAAGCGCGGGCTCTCTGTGGAGGGGCTGGGAGAGGAGCGC CCGCTCTCTGTAGAGGGGCGGGGAGGGGACCACCCGCTGTCTGTGGAGGG GCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCG CCCGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGG GGCGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCG CCCGCTGTCTGTGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	140	0.0071	514	c.114 others(533): Show c.1141+2552_1141+2553insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGAGCGCCCGCTGTCT GTGGAGGGGCGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGG GGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCCCGCTGTCT GTGGAGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAG CGCCCGCTGTCTGTGGAGGGGCTGGGAAGGAAGCGCGGGCTCTCTGTGGA GGGGCTGGGAGAGGAGCGCCCGCTCTCTGTAGAGGGGCGGGGAGGGGACC ACCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGA GGGGCGGGGGGGGGGAGCGCCCGCTCTCTGTGGAGGGGCGGGGAGGGGAG CGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MSR1_chr8_16102881_16197651	16189595	A A	ATATATAT others(507): Show ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATTTTATATATATAAAATCTTATTTTATAT ATATTTTATATACATAAAATCTTATTTTATATATATTTTATATACATAAA ATCTTATTTTATATATATTTTATATACATAAAATCTTATTTTATATATAT TTTATATACATAAAATCTTATTTTATATATATTTTATATACATAAAATCT TATTTTATATATATTTTATATACATAAAATCTTATTTTATATATATTTTA TATATAAAATCTTATTTTATATATATTTTATATATAAAATCTTATTTTAT ATATATTTTATATATAAAATCTTATTTTATATATATTTTATATATATTTT ATATATATAAAATCTTTATATATATTTTATATATATAAAATCTTTATATA TATTTTATATATATAAAATCTTTATATATATTTTATATATATAAAATCTT ACTTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	330	0.0030	514	c.-5+ others(529): Show c.-5+3002_-5+3003insAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGATTTTATATATATAAAATATATATAAAGATTTTA TATATATAAAATATATATAAAGATTTTATATATATAAAATATATATAAAA TATATATAAAATAAGATTTTATATATAAAATATATATAAAATAAGATTTT ATATATAAAATATATATAAAATAAGATTTTATATATAAAATATATATAAA ATAAGATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATAT AAAATATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAA GATTTTATGTATATAAAATATATATAAAATAAGATTTTATGTATATAAAA TATATATAAAATAAGATTTTATGTATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(507): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0074 a0015c0027t0001g0074	1	364	0.0028	514	c.394 others(529): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(507): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCTCCC CCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCC TCCTCCTCCCCCTCCACCTCCCCCTCCGCCTCCTCCTCCCTCTCCTCCTC CCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTT CTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCC CCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCC ACCCCCTCCTCCTCCTCCACCTCCAACTCCACCTCCTCATCCTGCACCTC CACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCT CCTCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACC TCCACCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG00738.hp1 others(52): Show HG00099.hp1 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03704.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19005.hp2 NA19060.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0004t0004 a0001c0005t0046	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0034 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0050 a0001c0001t0002g0075 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0014 a0001c0001t0003g0040 a0001c0001t0003g0064 a0001c0001t0003g0078 a0001c0001t0003g0113 a0001c0001t0004g0041 a0001c0001t0004g0048 a0001c0001t0004g0099 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0091 a0001c0001t0006g0024 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0007g0057 a0001c0001t0007g0093 a0001c0001t0007g0104 a0001c0001t0010g0061 a0001c0001t0011g0105 a0001c0001t0013g0004 a0001c0001t0014g0074 a0001c0001t0015g0001 a0001c0001t0015g0032 a0001c0001t0016g0017 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0024g0070 a0001c0001t0027g0103 a0001c0001t0029g0016 a0001c0001t0030g0055 a0001c0001t0034g0023 a0001c0001t0035g0045 a0001c0001t0036g0069 a0001c0001t0038g0031 a0001c0001t0041g0080 a0001c0001t0042g0063 a0001c0001t0043g0019 a0001c0001t0044g0020 a0001c0001t0045g0021 a0001c0001t0049g0008 a0001c0004t0004g0116 a0001c0005t0046g0071	55	118	0.4661	514	c.123 others(533): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCT CCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCC GCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCC ACCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTC ATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCT CCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCAAC TCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTC CTCCACCTGCACCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCT CCCCCTCCTCCTTAACCTCCACCTCCACCTCCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(507): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCTCCC CCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACCTCCATCTGCTCC TCCTCCTCCCCCTCCACCTCCCCCTCCGCCTCCTCCTCCCTCTCCTCCTC CCCCTCCACCTCCACCTCTTCCTCCCCACCTCCTCCCCCACCCCCTCCTT CTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCACCTCCACCTCCC CCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCCTCCTCATTCTCC ACCCCCTCCTCCTCCTCCACCTCCAACTCCACCTCCTCATCCTGCACCTC CACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCACCTCCTCAACCT CCTCCTCCTCCTCCACCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCACC TCCACCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0051 a0001c0001t0008g0051	1	118	0.0085	514	c.123 others(533): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCT CCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCC GCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCC ACCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTC ATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCT CCACCCCCTCCTCCTCATTCTCCACCCCCTCCTCCTCCTCCACCTCCAAC TCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTC CTCCACCTGCACCTCCTCAACCTCCTCCTCCTCCTCCACCTCCCCCTCCT CCCCCTCCTCCTTAACCTCCACCTCCACCTCCTCCTCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(507): Show CTGTATACATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAG CATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTA TGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCA GTATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATAC ACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0187 a0001c0004t0014g0187	1	362	0.0028	514	c.-75 others(533): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTA TACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGT ATACATGCTGTACACAGTATACATGCTGTACATATATACAGTATACATGC TGTACATATATACAGTATACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(507): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATG TGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTG TGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	424	0.0024	514	c.26 others(525): Show c.2689_*2690insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGT GCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCCTCCC others(507): Show CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0016 a0000c0004t0016	a0000c0004t0016g0221 a0000c0004t0016g0221	1	350	0.0029	514	c.56 others(525): Show c.5620_*5621insCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(507): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGAGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGG GGCAATGGGTGCAGGGTGGGTGGGGGTGGAGGGGGGAGCACTCAGGATCC CTCCCGGGGCAATGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0062 a0001c0062	a0001c0062t0005 a0001c0062t0005	a0001c0062t0005g0116 a0001c0062t0005g0116	1	324	0.0031	514	c.140 others(531): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGG GATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535614	G G	GGTGGGTC others(507): Show GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCA GGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGT GCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0144 a0001c0009t0002g0144	1	324	0.0031	514	c.140 others(531): Show c.140+8409_140+8410insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCA GGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535671	T T	TGGAGGGG others(507): Show TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0226 a0001c0013t0003g0226	1	324	0.0031	514	c.140 others(531): Show c.140+8352_140+8353insCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCTCCACCCACCCTGCACCC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108164056	G G	GGTAATGA others(507): Show GGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCG GGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGA GGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGG GGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACC GGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTG GCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGA GAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGG TGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATA CCGGGTGGGGTGGCA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	208	0.0048	514	c.346 others(533): Show c.3466+2864_3466+2865insTGCCACCCCACCCGGTATGACCTCTC ATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGT ATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCG GTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCC ACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTC TCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCC CACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTAC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(507): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAA AACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTAAACT ATATAGTTTAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAA ACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTTTATGTAG TTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTTT AAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTATATAG TTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0015 a0001c0003t0001g0015	1	244	0.0041	514	c.342 others(533): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACT ATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATA TAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAACTA TATAAACTATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATAT AAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAA ACTATATAGTTTTAAACTATATAAACTATATAGTTTAAAACTATATATAA ACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(507): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGC TAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATG TGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTG TGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0243 a0002c0001t0001g0243	1	408	0.0025	514	c.-10 others(531): Show c.-10+1012_-10+1013insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTAT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAG CCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CCCTCCCT others(507): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCTTCCTCCCTCTCACCTCCCCTC TCTCTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCCCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTTCCTCCCTCTC CACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCA CCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	227	0.0044	514	c.23 others(525): Show c.2397_*2398insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCTTCCTCC CTCTCACCTCCCCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTCTCTCT CCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCT CTCTTCCTCCCTCTCCACCTCCCCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00609.hp2 others(30): Show HG00099.hp1 HG00609.hp1 HG00609.hp2 HG01074.hp1 HG01361.hp2 HG02056.hp1 HG02109.hp1 HG02451.hp1 HG02683.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG03098.hp1 HG03516.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18952.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp2 NA19064.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0019 a0001c0024 a0001c0026 a0002c0003 a0002c0006 a0002c0011 a0002c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0034 a0001c0001t0122 a0001c0002t0001 a0001c0002t0008 a0001c0002t0012 a0001c0002t0029 a0001c0002t0104 a0001c0002t0109 a0001c0002t0119 a0001c0002t0121 a0001c0004t0011 a0001c0004t0015 a0001c0004t0064 a0001c0005t0023 a0001c0005t0120 a0001c0007t0091 a0001c0009t0020 a0001c0010t0016 a0001c0013t0118 a0001c0019t0068 a0001c0024t0051 a0001c0026t0087 a0002c0003t0001 a0002c0003t0065 a0002c0006t0031 a0002c0011t0031 a0002c0012t0110	a0001c0001t0001g0134 a0001c0001t0003g0091 a0001c0001t0008g0028 others(30): Show a0001c0001t0001g0134 a0001c0001t0003g0091 a0001c0001t0008g0028 a0001c0001t0013g0193 a0001c0001t0018g0194 a0001c0001t0022g0180 a0001c0001t0034g0158 a0001c0001t0122g0207 a0001c0002t0001g0019 a0001c0002t0008g0029 a0001c0002t0012g0100 a0001c0002t0029g0056 a0001c0002t0104g0080 a0001c0002t0109g0130 a0001c0002t0119g0206 a0001c0002t0121g0118 a0001c0004t0011g0112 a0001c0004t0015g0013 a0001c0004t0064g0151 a0001c0005t0023g0111 a0001c0005t0120g0147 a0001c0007t0091g0115 a0001c0009t0020g0138 a0001c0010t0016g0089 a0001c0013t0118g0027 a0001c0019t0068g0050 a0001c0024t0051g0052 a0001c0026t0087g0094 a0002c0003t0001g0192 a0002c0003t0065g0110 a0002c0006t0031g0173 a0002c0011t0031g0113 a0002c0012t0110g0040	33	218	0.1514	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCTCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0003 a0001c0010t0017g0003	1	218	0.0046	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCTCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 NA19030.hp1 HG03486.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0019 a0001c0005t0047 a0001c0001t0003 a0001c0001t0019 a0001c0005t0047	a0001c0001t0003g0197 a0001c0001t0019g0043 a0001c0005t0047g0008 a0001c0001t0003g0197 a0001c0001t0019g0043 a0001c0005t0047g0008	3	218	0.0138	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG01361.hp1 others(16): Show HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02165.hp1 HG02280.hp2 HG02572.hp2 HG02886.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG04115.hp1 NA18990.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0002c0003 a0002c0008 a0002c0015 a0003c0014	a0001c0001t0008 a0001c0001t0022 a0001c0001t0097 others(16): Show a0001c0001t0008 a0001c0001t0022 a0001c0001t0097 a0001c0001t0125 a0001c0002t0021 a0001c0002t0114 a0001c0002t0117 a0001c0004t0017 a0001c0004t0041 a0001c0005t0140 a0001c0007t0001 a0001c0007t0002 a0001c0007t0043 a0002c0003t0004 a0002c0003t0052 a0002c0008t0014 a0002c0015t0075 a0003c0014t0025 a0003c0014t0102	a0001c0001t0008g0086 a0001c0001t0022g0107 a0001c0001t0097g0095 others(16): Show a0001c0001t0008g0086 a0001c0001t0022g0107 a0001c0001t0097g0095 a0001c0001t0125g0037 a0001c0002t0021g0176 a0001c0002t0114g0105 a0001c0002t0117g0123 a0001c0004t0017g0002 a0001c0004t0041g0201 a0001c0005t0140g0042 a0001c0007t0001g0108 a0001c0007t0002g0124 a0001c0007t0043g0126 a0002c0003t0004g0186 a0002c0003t0052g0213 a0002c0008t0014g0053 a0002c0015t0075g0122 a0003c0014t0025g0074 a0003c0014t0102g0143	19	218	0.0872	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTGCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTCCCCTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0093 a0001c0004t0093	a0001c0004t0093g0032 a0001c0004t0093g0032	1	218	0.0046	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTGCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTCCCCTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(507): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCTCCTTCCCCTCCCCTTCCCT CCCTCCCTCCCCTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCC TCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCCT TCCCCTTCCCCTCCCTTCCCTCCTTTCCCTCCCCTCCCTTCCCCTCCCCT CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCTCCCATCCCCTACACTCCCTCCCCTCCCCTTCCCTACA CTTCCGTCCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCC TCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0100 a0002c0008t0100	a0002c0008t0100g0061 a0002c0008t0100g0061	1	218	0.0046	514	c.80+ others(531): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCTCCTT CCCCTCCCCTTCCCTCCCTCCCTCCCCTCCCTCCCTTCCCCTCCCCTCCT CTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCT CCCCTCTCCTTCCCTTCCCCTTCCCCTCCCTTCCCTCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCTCCCATCCCCTACACTCCCTCCC CTCCCCTTCCCTACACTTCCGTCCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCCCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679065	T T	TATAAATA others(507): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	308	0.0033	514	c.-75 others(533): Show c.-758+6764_-758+6765insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATT TATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAA TATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATG TAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATG TAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATG TAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAATAT others(507): Show TATAATATATAATATATAATATATATTATATATAATATATTATATATAAT ATATAATATATTATATATAATATATATTATATATTATATATAATATATAA TATATATTATATATAATATATAATATATATAATATATATTATATATAATA TATATTATATATTATATATAATATATAATATATATTATATATAATATATA TTATATATAATATATAATATATAAATATATATTATATATAATATATATTA TATATAATATATATTATATATTATATATATTATATATTATATATTATATA TAATATATATTATATATTATATATATTATATATTATATATTATATATAAT ATATAAATATATTATATATAATATATAATATATAATATATATATTATATA TAATATATAAATATATATTATATATTATATATAATATATAATATATTATA TATATATTTAATATATATTTTATATATAAATATATATTATATATATTTAA TATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0085 a0001c0001t0007g0085	1	188	0.0053	514	c.193 others(533): Show c.193-29585_193-29584insTATATAAAATATATATTAAATATATA TAATATATATTTATATATAAAATATATATTAAATATATATATAATATATT ATATATTATATATAATATATAATATATATTTATATATTATATATAATATA TATATTATATATTATATATTATATATAATATATTTATATATTATATATAA TATATAATATATAATATATATAATATATAATATATATTATATATAATATA TAATATATAATATATATAATATATAATATATATTATATATAATATATATT ATATATAATATATATTTATATATTATATATTATATATAATATATATTATA TATAATATATATTATATATTATATATAATATATAATATATATTATATATA ATATATATTATATATATTATATATTATATATAATATATATTATATATTAT ATATAATATATAATATATATTATATATAATATATTATATATTATATATAA TATATTATATATAATATATATTATATATTATATATTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(507): Show CATATATATATATTCCATATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCCTATATATATATTCCATATATATATATTCCCTATAT ATATATTCCCTATATATATATTCCCTATATATATATTCCCTATATATATA TTCCATATATATATATTCCATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATTCCATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATATATATATTCCATATATATA TATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	324	0.0031	514	c.115 others(531): Show c.115-2706_115-2705insATATATATATATATATATATATATGGAA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATAGGG AATATATATATAGGGAATATATATATAGGGAATATATATATAGGGAATAT ATATATATGGAATATATATATAGGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TATGTATG others(507): Show TATGTATGTGATATGTGATATATATATCACATATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATGTATCACATACATATGTATCACATACATATGTATCACATA CATATGTATCACATACATATGTATCACATACATATGTATCACATACATAT GTATCACATACATATGTATCACATACATATGTATCACATACATATGTATC ACATACATATCACAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0243 a0001c0007t0003g0243	1	244	0.0041	514	c.104 others(533): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT ATGTGATATGTGATATATATATCACATATCACATACAT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SHANK1_chr19_50654255_50724802	50678865	G G	GATGGGGA others(507): Show GATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAAGATGATGGGGAGGGGT CAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGA GGGGTCAGGGTGTGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGATGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAA GATGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAGGGTGTGGGGAGGGGTGAGGGTGATGGGGAGGGGTCAGGGTGTGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGTCAGGG TGATGGGAAGGGGTCAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTG ATGGGGGGGTGTCAGTGTGATGGAGAGGGGTCAGTGTGATGGAGAGGGGT CAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0253 a0001c0003t0003g0253	1	316	0.0032	514	c.257 others(533): Show c.2578-6752_2578-6751insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCA TCACACTGACCCCTCTCCATCACACTGACACCCCCCCATCACCCTCACCC CTTACCTGTAATGCTTGTAACCCTGACCCCTTCCCATCACCCTGACCCCT CCCCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGA CCCCTCCCCATCACCCTCACCCCTCCCCACACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCACACCCTGACCCCTCCCCATCATCTTGACCCCTCC CCACACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCCTGAC CCCTCCCCACACCCTGACCCCTCCCCACACCCTGACCCCTCCCCACACCC TGACCCCTCCCCATCACCCTGACCCCTCCCCACACCCTGACCCCTCCCCA TCATCTTGACCCCTCCCCACACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SIGIRR_chr11_400716_419999	401135	G G	GCCCCGCT others(507): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCGCTCACCCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACACCCGCCCCGCTCACCCCGGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCG ACCCGCTCACCCCCGGCCCCGCTCACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCGCTCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	242	0.0041	514	c.47 others(525): Show c.4760_*4761insGGGTGTGAGCGGGCCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGCCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGA GCGGGGCCGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCG GGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGG TGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGTGAGC GGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4580		chr11	TogoVar
SLC22A31_chr16_89190761_89205537	89192567	C C	CTCATTAC others(507): Show CTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTCCCTAACC CCGCCCCGTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTC CCTAACCCCGCCCCTCAGTACCCAGCCACGCCGCTTCCTCCCCAGCTCCT CCTCCTCCGTAACCCCGCCCCCTCAGTACCAGCCACGCCCCTTCCTCCCC AGTTCCACCTCCTCCGCAACACCACCCACTCATTACCAGCCACGCCGCTT CCACCCAACCCGCCCCCTGCTCGCCAACCCCGCCCCCTCATTACTAGCCA CGCCCCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCCTCATTA CCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCC GTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACC CCGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCTCCTCCTC CCTAACCCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0004 a0003c0005t0001g0004	1	428	0.0023	514	c.34 others(525): Show c.3431_*3432insCGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGA GGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTAGGGAGGAGGCGGAG CTGGGGAGGAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGA GGCGGAGCTGGGGAGGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTA GGGAGGAGGCGGAGCTGGGGAGGAAGGGGCGTGGCTAGTAATGAGGGGGC GGGGTTGGCGAGCAGGGGGCGGGTTGGGTGGAAGCGGCGTGGCTGGTAAT GAGTGGGTGGTGTTGCGGAGGAGGTGGAACTGGGGAGGAAGGGGCGTGGC TGGTACTGAGGGGGCGGGGTTACGGAGGAGGAGGAGCTGGGGAGGAAGCG GCGTGGCTGGGTACTGAGGGGCGGGGTTAGGGAGGAGGAGGAGCTGGGGA GGAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGAGGAGGAG CTGGGGAGGAAGCGGCGTGGCTGGTAATGA	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		3193		chr16	TogoVar
SLC6A3_chr5_1387794_1450440	1422680	C C	CCACGCTG others(507): Show CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACT GCCCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCT GGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCT GCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCT GCCCACAGTGCTGCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0256 a0001c0012t0004g0256	1	373	0.0027	514	c.654 others(529): Show c.654-667_654-666insAGCAGCACTGTGGGCAGCGGTGGTTACCCA GCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA TCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGC ACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGGCAGTACTGTGGGCAGC GGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCA GCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422680	C C	CCACGCTG others(507): Show CCACGCTGCTGGGTGCCCACTGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACT GCCCAAGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCT GGGTGCCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCT GCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCT GCCCACAGTGCTGCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	373	0.0027	514	c.654 others(529): Show c.654-667_654-666insAGCAGCACTGTGGGCAGCGGTGGTTACCCA GCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCA TCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCA GCGGTGGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCA GCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGC ACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGGCAGTACTGTGGGCAGC GGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCA GCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCA GCACTGTGGGCAGCAGTGGGCACCCAGCAGCGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422757	A A	TGCTGCTG others(507): Show TGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTG CCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTGCCCACCGCTGCC CACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCAGTGCTGCCCA CGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCC CACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCA CGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGCTGGGTGCC CACCGATGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA CAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCA AGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGCTCACGGTGCTGGGTA CCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGGGTGCCCACCGCTGCC CACAGTGCTGCCCAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0123 a0001c0001t0002g0124	2	373	0.0054	514	c.654 others(526): Show c.654-743delTinsGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAG CACCGTGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAG CACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAG CGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCC AGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGC AGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAG CGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGC AGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCG GTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAG CACCTTGGGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAG CACTGTGGGCAGCGGTGGGCACCCAGCAGCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168613912	G G	GGCCTCTT others(507): Show GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCA GCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCTCCTAGA GCCAGCACAGGACCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCA CACCTACAGCCAGCATAGGACCTCTTCACACCTACAGCCAGCACAGGGGG CCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGC ACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTA CAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCAGGGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCATACCTACAGCCAGCACATGG AGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGACCTCTTCACA CCTACAGCCAGCACA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0053 a0001c0002t0007g0053	1	180	0.0056	514	c.907 others(531): Show c.907+5674_907+5675insCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGC ACAGGGCCTCTTCTCCTAGAGCCAGCACAGGACCTCTTCACACCTACAGC CAGCACAGGGGGCCTCTTCACACCTACAGCCAGCATAGGACCTCTTCACA CCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCC TCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCAGC ACAGGGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTA CAGCCAGCAGGGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCA TACCTACAGCCAGCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGG GGCCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGC CAGCACAGGACCTCTTCACACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(507): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGG GGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	514	c.34 others(523): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCC CCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGT TCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(507): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGG GAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGG GGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	514	c.34 others(523): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCCCCCTCCCCCTCCCCCT CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(507): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGG GGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	251	0.0040	514	c.34 others(523): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCCCCCTCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCC CCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCC CCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(507): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGG AGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGG GAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAG GGGGAAGGGGGAGGGGGAACGGGGGAGGGAGATGGGGAGGGGGAGGGGGA GGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGG GAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	514	c.34 others(523): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCC CCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCC CTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89852574	T T	TGGATCCC others(507): Show TGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCC GTCCTCTCCCCACCCCCTGGATCCCATGGCCCATCTTCCATCCTCCCCCA ACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATC CATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGT CCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATC CTCCCTCCACCCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	356	0.0028	514	c.646 others(531): Show c.646-1705_646-1704insATGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCC CTGGCCCATCTTCCGTCCTCTCCCCACCCCCTGGATCCCATGGCCCATCT TCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCACCCCC CGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCTCCACCCCCCGGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852621	C C	CTGGCCCA others(507): Show CTGGCCCATCTTCCATCCTCCCCCCAACCCGCCAGATCCCCTGGCCCATC TTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCCCC ATATTCCATGGCCCGTCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGG CCCATCTTCCATCCTCTCCCCACCCCCTGGATCCCATGGCCCATCTTCCA TCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGA TCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCC CGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGT CCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTC ACCCCCCGCATCCCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0050 a0002c0002t0002g0025 a0002c0002t0002g0050	2	356	0.0056	514	c.646 others(531): Show c.646-1659_646-1658insATCTTCCATCCTCCCCCCAACCCGCCAG ATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCAGATCCCACGGCCCATCTTCCATC CTCCCCCCACCCCCCATATTCCATGGCCCGTCTTCCATCCTCCCCCAACC CCCCAGATCCCCTGGCCCATCTTCCATCCTCTCCCCACCCCCTGGATCCC ATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCC CTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCC CCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCA TGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCT TCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642093	A A	AGTTGCCT others(507): Show AGTTGCCTGGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG00642.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	422	0.0047	514	c.66 others(525): Show c.6620_*6621insCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCG CTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCA CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCACCCCCCCCCCAGGCAAC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4521		chr20	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(507): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGAGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATA TGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATA TACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATA TGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	188	0.0053	514	c.152 others(533): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGC CTGTAGTCCCCGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0004 a0001c0017t0004	a0001c0017t0004g0193 a0001c0017t0004g0193	1	398	0.0025	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCCT GCCTCAGCCTCCCGAGTAGCGGGGACTACAGGCGCCTGCCACCATGCCAG GCTCATTTTTTGTGTTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar
SYDE2_chr1_85151889_85206016	85154441	C C	CTCTGCCG others(507): Show CTCTGCCGCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCATCACACCTGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTCCAGACAGTTATTATGTGGGACTTTAAATATATATGA AGTCTTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGGG GCCAAGGCTGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAA CACAGTGAAACCCCCGTCTCTACTAAAAAACAAAAAACCAAACAAACAAA GAAACAAAAAAAAAAACACAAAAAATGAGCCTGGCATGGTGGCAGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGCGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGGAGCCGGGATCGCGCCACTGCACTCCAGCCTGG GCGACAGAGCAAGGCTCTGTCTCAAAAAAAAAAAAAAAATAATAAATCAA AAGATATAGATGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02129.hp2 HG01070.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0144 a0001c0001t0001g0096 a0001c0001t0001g0144	2	398	0.0050	514	c.43 others(525): Show c.4308_*4309insCTTCATCTATATCTTTTGATTTATTATTTTTTTT TTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCCCGGCTCCTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCGCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCA GGCTCATTTTTTGTGTTTTTTTTTTTGTTTCTTTGTTTGTTTGGTTTTTT GTTTTTTAGTAGAGACGGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCTGCCAGCCTTGGCCCCCCTAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCAGCAAGACTTCATATATATTTAAAGTCC CACATAATAACTGTCTGGACCCCGTCTCTACTAAAAATACAAAAAATTAG CCAGGTGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGACTGAGG CAGGAGAATGGCGTGAACCCGGGCGGCAGA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding		2447		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)