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
PPP3CA_chr4_101018418_101352526	101164091	T T	TCGCACCT others(547): Show TCGCACCTCAGCCTCCTGACCAGCTGGGATTACAGACATTCACCACAGAG CCTGGCTAATTTTTTTGTCGAGACAGGGTCTTACTTTGTTGCCCAGGCTG GTCTCAAACTCCTAGCTTCAAGCGATCTGCCTGCCCTAGCCTCTCAAAGT GCTGGGATTACAAGTGTGAGCTACTGTGCCTGGCCACATGACAGAGTTCT AGTATCTGTAATTTCACATCCAGGCCTTCATTCTCTCCACCTATAAACGT CCACTGGAACACAATTGGAAGAAAATATTGGTAAAAATGTTGTTCCTTTC ATGAGCAGCATAAGCAGTATGTTATATAATTTAATCTAATTCAGCGTTAA TAAATACTCAAGTTTAAATTTTACCAAAACAAACCCATTAATTACAAATG AAGTAACCCAAGGTTTATAGGATGACAGACTCTTAGCAATACTATGAAAG AAACCACAATAAGGTATACTGCCTTCAGCCTGCTCACTCTGAGTCACACT TGCCTCCTTGATGTTGTAATATTTCTTTCTGGGAGCCAAGCTCCAGCTGT TCACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp2 HG03195.hp2 others(2): Show HG02486.hp2 HG02647.hp2 HG03195.hp2 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 a0001c0001t0031	a0001c0001t0001g0134 a0001c0001t0015g0005 a0001c0001t0015g0007 others(2): Show a0001c0001t0001g0134 a0001c0001t0015g0005 a0001c0001t0015g0007 a0001c0001t0022g0091 a0001c0001t0031g0006	5	192	0.0260	554	c.259 others(573): Show c.259+31824_259+31825insTGTGAACAGCTGGAGCTTGGCTCCCA GAAAGAAATATTACAACATCAAGGAGGCAAGTGTGACTCAGAGTGAGCAG GCTGAAGGCAGTATACCTTATTGTGGTTTCTTTCATAGTATTGCTAAGAG TCTGTCATCCTATAAACCTTGGGTTACTTCATTTGTAATTAATGGGTTTG TTTTGGTAAAATTTAAACTTGAGTATTTATTAACGCTGAATTAGATTAAA TTATATAACATACTGCTTATGCTGCTCATGAAAGGAACAACATTTTTACC AATATTTTCTTCCAATTGTGTTCCAGTGGACGTTTATAGGTGGAGAGAAT GAAGGCCTGGATGTGAAATTACAGATACTAGAACTCTGTCATGTGGCCAG GCACAGTAGCTCACACTTGTAATCCCAGCACTTTGAGAGGCTAGGGCAGG CAGATCGCTTGAAGCTAGGAGTTTGAGACCAGCCTGGGCAACAAAGTAAG ACCCTGTCTCGACAAAAAAATTAGCCAGGCTCTGTGGTGAATGTCTGTAA TCCCAGCTGGTCAGGAGGCTGAGGTGCG	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13			chr4	TogoVar
PRSS33_chr16_2778953_2792560	2787264	C C	CTCACCCC others(547): Show CTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCACTCCTCTCT CATCACCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCAT CCTCACCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCC ATCCTTCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATC CTCACCCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCA TCCTCACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCC CTCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCAC CCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCAT CCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCT CCCCCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTTC ACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCTC ATCCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03516.hp1 HG02896.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	386	0.0052	554	c.-58 others(569): Show c.-58+268_-58+269insAGGATGAGGGAGGGGGTGAAGGATGGGGGA GGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGA TGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGGGGGAGGGGG TGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGAGG GAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAG GATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGGGGGAGGG GGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGGAGTGAGGAGGAGGG GGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGGGGGTGAGGATGAGG GTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGGTGAGGATGAGGGAG GGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGGGGTGACGATGGGGG GGTGAAGGATGGAGGAGGGGTGATGAGAGAGGAGTGAGGATGAGGGAGGG GGTGAAGGATGAGGGAGGGGGTGA	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492358	G G	GGCCCTCC others(547): Show GGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCG AGGCCGCCCAGAGCCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGA CCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCCGGGAGACCCGAGGC CGCCCAGAGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCTCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCTCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGC CCAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0042 a0001c0002t0044g0042	1	295	0.0034	554	c.126 others(573): Show c.1265+3359_1265+3360insCCCTCCCCGGGAGACCCGAGGCCGTC CAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCCCCCCGGGAGAC CCGAGGCCGCCCAGAGCCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCC TTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGC CGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGG AGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC GGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCTCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGAC CCGAGGCCGCCCAGGGCTCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCC TTCCCGGGAGACCCGAGGCCGCCCAGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504453	C C	CCCCTCAC others(547): Show CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATC TCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCC CTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTG TACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACC TCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACC CGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTG TGCAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	295	0.0034	554	c.139 others(573): Show c.1396-1031_1396-1030insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCC CTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCC TGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTC ACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTAC CCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTC TTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAACCCTCACCTCCT GTACCCCCTCACCTCCTCCTGTACCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555301	A A	ATGATGGT others(547): Show ATGATGGTGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGT GGTGGTAATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGT GATGATAGTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAG TGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTG ATAATGGCGATGATGGTGGTGACGGTGATGATGATAGTAATGATGGTGGT GATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGA CGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGATGGTGGTGGTG GTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGGTGATGATGGC AGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTGATGGCAATGG TAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGTGGTGGTAACG GTGGTGATAATAGTGATAATGGTGGTGATGACAGTGGTGGTGGTGATGGT GGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0111 a0001c0001t0027g0111	1	154	0.0065	554	c.-32 others(575): Show c.-320+55524_-320+55525insCCACCACCATCACCACCACCACTG TCATCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCC ATCACCACCATCATCGCCATTATCACCATTACCATTGCCATCACCATCAC TACTATCATAATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCA CCACCATCACCACCATCATTACTATCATCACCACCACCACCATCACTGAC ATGATCACCATTACCACCACCACCACTGCCGTCACCACCATTATCACTAT TATCACCACCGTTACCACCACCACTGCCATCACCACCATCATTACTATCA TCATCACCGTCACCACCATCATCGCCATTATCACCATTACCATCGCCATC ACCACCATCACTACTCTCATAATCACCATCACTGCCATCATCACCATTGC CATCACTATCACCACCATCATGACTATCATCACCATCACCACCACCACCA CCATCACTGACATATAATCACCATTACCACCACCACCATTATCACTGTCA TCATCATCTCCATCAATACCACCACCATCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPH3AL_chr17_207389_357807	305124	A A	AGGGGACA others(547): Show AGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGG GGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCAGGAGGGGGACAG GGCGGGAGGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG AGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGG ACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGAC AGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAG GGCAAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGC GAGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	133	0.0075	554	c.351 others(573): Show c.351+14295_351+14296insCTCTCGCCCTGTCCCCCTCTCGCCCT GTCCCCCTCCCGCCCTGTCCCCTCTTGCCCTGTCCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCT CGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCG CCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCC TGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCCTCCCGCCCTGTCCCCCTCCTGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCCCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668517	C C	CCCTCACC others(547): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCCTCACCCTCTCTCT CCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCGCCCTCCCTCT CCCCCTCACCCTCACCCTCCCTCTCCCTCACCCTCACCCTCCCTCTCCCC TCGCCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCTCCCTCACCCTCCC TCTCCCCTCACCCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCC CTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCC ACTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCTCACCCTCATC CCACCCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCA CCCTCCCTCTCCCTCATCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACC CTCCCTCTCCCTCACCCACCCTCTCCCCTTACCCTCCCCCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCCCTCGCCCTCCCCTCTCCCCCTCACC CTCAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0221 a0002c0002t0004g0221	1	262	0.0038	554	c.249 others(573): Show c.2496-1648_2496-1647insATGAGGGTGAGGGGGAGAGGGGAGGG CGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTA AGGGGAGAGGGTGGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGA GAGAGAGGGAGGATGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGG GGAGAGGGAGGGTGAGGGAGAGGGGGTGGGATGAGGGTGAGGGAGAGGGA GGGCGAGGGGAGAGGGAGGGTGAGGGAGTGGGAGGGTGAGGGAGGGGGAG GGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGGA GAGGGAGGGCGAGGGGAGAGGGAGGGCGAGGGGAGAGGGAGGGTGAGGGT GAGGGAGAGGGAGGGTGAGGGTGAGGGGGAGAGGGAGGGCGAGGGGAGAG GGAGGGCGAGGGGAGAGGGAGGGTGAGGGAGAGAGAGGGTGAGGGGGAGA GGGAGGGTGAGGGAGAGGGAGGGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCCCGTGT others(547): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	290	0.0035	554	c.166 others(571): Show c.1663-913_1663-912insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1073173	G G	GAGCCCCC others(547): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACAC TTATGCAGCCCCAGTGAACCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCA CACTTAACGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGC ATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0026 a0001c0010t0005g0026	1	118	0.0085	554	c.224 others(571): Show c.2241+459_2241+460insGCATAAGTGTGATGCCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCA CTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGC TGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAG TGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCAT AAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTG TGCTGGGGGTTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGG CTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGG GGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATA AGTGTGATGCCCGTGTGCTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SNTG2_chr2_945849_1372613	1223119	C C	CGGCGCAG others(547): Show CGGCGCAGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAGGCGGTGCAGGA TGGAGGGTGTCTCCCTGTCCTGCTGTGGAGGTGCTGAATCGCTGTAGAGG AAAGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03927.hp2 HG01496.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0063 a0002c0003t0001g0185 a0001c0001t0001g0063 a0002c0003t0001g0185	2	190	0.0105	554	c.719 others(573): Show c.719+13891_719+13892insCGCAGTGATGGAGGGTGTCTCCCTGT CCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAACCGGCGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAACCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCT GCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGC GTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAA GCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTG CTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGT CCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGT GATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCT GTAGAGGAAGGCGGTGCAGGATGGAGGGTGTCTCCCTGTCCTGCTGTGGA GGTGCTGAATCGCTGTAGAGGAAAGTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827465	A A	AATATATT others(547): Show AATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	302	0.0033	554	c.12+ others(569): Show c.12+4019_12+4020insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(547): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	302	0.0033	554	c.12+ others(569): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
STAB2_chr12_103582273_103771719	103768582	G G	GGAGGGAG others(547): Show GGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GAGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGA GGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGG GAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAG GGAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAG GGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAG GGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGA GAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAG GGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTG AGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	256	0.0039	554	c.22 others(565): Show c.2246_*2247insGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGG GGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGA GAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAG AGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGAGAGAGGG AGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGA GGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGGGAGGGAGAGG GACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGAGGGAGG GAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGA GGGAGGGAGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGA GGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGA GAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGA GAGGGAGAGGGAGTGAGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1864		chr12	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(547): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGG AACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	364	0.0028	554	c.157 others(573): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCT CTCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCT CCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCC CCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCC CACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCA CCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CAGGGGGT others(547): Show CAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAAGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAG GCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACACCA GAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0187 a0001c0003t0059g0187	1	352	0.0028	554	c.299 others(571): Show c.299-1413_299-1412insCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTTC CCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGT GAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCG TGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCATCACCCCCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACC CCGTGAGTTCTGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCATCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1272875	G G	GCCATCCA others(547): Show GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCT ACGACCGCCATCCACAGTCACCACACATCAGACCCCCATGACCAACCACC ATCTAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCA GACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCCGGGACCA ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCATCCACAGTCA CCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	392	0.0026	554	c.228 others(571): Show c.2287-596_2287-595insTGATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGCGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTAGATGGTGGTTGGTCATGGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747511	G G	GCACTGGG others(547): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0223 a0002c0002t0008g0223	1	314	0.0032	554	c.189 others(569): Show c.189-814_189-813insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM255B_chr13_113754226_113821995	113817344	T T	TCCCCCCA others(547): Show TCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACATCCCTCCTC CCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCC TCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTCCCTCCT CGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCTCGGGGC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACAT ACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0148 a0001c0001t0148	a0001c0001t0148g0224 a0001c0001t0148g0224	1	260	0.0039	554	c.54 others(565): Show c.5441_*5442insCCCCCCACGGGACACATACCCCCTCCCCCCACGG GACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACA CATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGAACACA TCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCC CCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCC CTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCT CCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCCTC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding		350		chr13	TogoVar
TRIML1_chr4_188134441_188152743	188152353	A A	AGGGGTTG others(547): Show AGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGCAGTGAGAGTGGAGTGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTG GGCTGAGAAGGGGAGTGAGAGTGGGGTTGAGAAGGGGAGTGACGAGAGAG GGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAGGGGAGTGAGAGTGGGGGT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGACGGGGAGTGAGAGTGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAGGGGACTGAGAGAGAGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGCGGAGTGAGAGTCGGGGTGAGAAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTAAGAAGGGGAGTG AGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0121 a0001c0004t0001g0121	1	228	0.0044	554	c.49 others(565): Show c.4981_*4982insGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGCAGTGAGAGTGGAGTGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGAAGTGAGAGTGGGCTGAGAAGGGGAGTGAGAGTGGGGTTGAGAAGG GGAGTGACGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAGGGG AGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGACGGGGAGTG AGAGTGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGACTGAGA GAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGCGGAGTGAGAGT CGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTAAGAAGGGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4611		chr4	TogoVar
VCX3B_chrX_8459830_8471510	8466755	G G	GGGGAGGG others(547): Show GGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0003 a0012c0012t0003	a0012c0012t0003g0010 a0012c0012t0003g0010	1	271	0.0037	554	c.37 others(563): Show c.372_*373insGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		246		chrX	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(548): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGG TTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGAT GATGGTTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGG TTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTG ATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGT GATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	98	0.0102	555	c.957 others(572): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATG GTGATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(548): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGG TTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGATTGTGGTTGTGAT GATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGG TTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTG ATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGT GATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0059 a0001c0002t0039g0059	1	98	0.0102	555	c.957 others(572): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGATTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATG GTGATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(548): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGG TTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGAT GATGGTTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGG TTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTG ATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGT GATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGA TGGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0077 a0001c0001t0024g0077	1	98	0.0102	555	c.957 others(572): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATGGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATG GTGATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(548): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGG TTGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGAT GATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGG TTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTG ATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGT GATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGA TGGTGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01358.hp2 others(12): Show HG00741.hp2 HG01168.hp1 HG01358.hp2 HG01496.hp1 HG02080.hp1 HG02630.hp2 HG02818.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0011 a0001c0018 a0001c0019 a0002c0004 a0002c0007	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(10): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0038 a0001c0003t0021 a0001c0005t0004 a0001c0009t0015 a0001c0011t0036 a0001c0018t0049 a0001c0019t0007 a0002c0004t0001 a0002c0004t0029 a0002c0007t0005	a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0002t0001g0010 others(12): Show a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0002t0001g0010 a0001c0002t0004g0079 a0001c0002t0038g0086 a0001c0003t0021g0023 a0001c0005t0004g0058 a0001c0009t0015g0038 a0001c0011t0036g0009 a0001c0018t0049g0080 a0001c0019t0007g0056 a0002c0004t0001g0043 a0002c0004t0001g0082 a0002c0004t0029g0083 a0002c0007t0005g0094	15	98	0.1531	555	c.957 others(572): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTT GTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGAT GGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGA TGATGGTTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATG GTGATGATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF10_chr8_1818926_1963641	1825077	T T	TCCACCTG others(548): Show TCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC TCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCAC CTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCC ACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTG TCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACA CCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCC CGCACC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0012 a0001c0043t0012	a0001c0043t0012g0279 a0001c0043t0012g0279	1	363	0.0028	555	c.-48 others(570): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(548): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCC AGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCC CTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCA GCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCC AGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGC CCCTCCTCCTCCTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTTCAG CCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCT CCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCC TCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0008 a0001c0001t0075g0008	1	334	0.0030	555	c.-10 others(566): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TGCCCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCC CTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCC CCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGC TCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGC TCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCGG CCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCT CCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCC TTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(548): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAG CCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCC CCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCC AGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCC CAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCG CAGACCCTCACCATCCGGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTT CCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCC TCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTC CTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	334	0.0030	555	c.-10 others(566): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCCTCCAG CCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCT CCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGC CCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAG CCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCC CTCCTCCTCCTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTTCAGCC CCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCC TCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTC CAGCCCCTCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
C2CD4C_chr19_400445_414147	410823	C C	CCTGCTGG others(548): Show CCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACG GATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TGCTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGA TCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATC CTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTC CACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCT GGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCT GGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCA CCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	322	0.0031	555	c.-18 others(566): Show c.-1859_-1858insAGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACA GATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGG GGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGA TCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCG TGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG CGGTGGACAGATCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACC CCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1677		chr19	TogoVar
C2CD4C_chr19_400445_414147	411277	C C	CCGGATCC others(548): Show CCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCACGG ATCCTTGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCACGGGTCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0035 a0001c0001t0042g0035	1	322	0.0031	555	c.-23 others(566): Show c.-2313_-2312insTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAC CCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGC CCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGG TGGACAGATCCCCAGGATCCG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2131		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(548): Show GCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG ATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCACCCCTGCTGGGCACGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT ACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGAT CCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTTGGGGTCTGT CCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	555	c.-23 others(566): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GTGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGT GCCCAGCAGGGGCGGTGGACAGACCCCAAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGC CCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGG TGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCC AGGATCCGTGCCCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138018970	C C	CCAGGTGC others(548): Show CCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTA GGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCT GACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCC AGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGG ACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA CGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACG GAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGT GCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGA AGTGGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0004 a0004	a0004c0042 a0004c0054 a0004c0042 a0004c0054	a0004c0042t0008 a0004c0054t0008 a0004c0042t0008 a0004c0054t0008	a0004c0042t0008g0121 a0004c0054t0008g0013 a0004c0042t0008g0121 a0004c0054t0008g0013	2	248	0.0081	555	c.226 others(574): Show c.2268-4027_2268-4026insACACCTGCCCTGACGGAAGTGGCCAG GTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGAC ACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACG GAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGT GCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCT GCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAG TGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGACGGAAGTGGTCAGGTGCAGTTAGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138019081	C C	CCAGGTGC others(548): Show CCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTA GGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCT GACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCC AGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA CGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCC ACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACG GAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCAC CTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGA AGTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0006 a0006c0014t0006	a0006c0014t0006g0140 a0006c0014t0006g0140	1	248	0.0040	555	c.226 others(574): Show c.2268-3916_2268-3915insACACCTGCCCTGACGGAAGTGGCCAG GTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGAC ACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACG GAAGTGGCCAGGTGCAGTTAGGACACCTGCCCTGACGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGACGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGC AGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCT GCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAG TTAGGCCACCTGCCCTGACGGAAGTGGTCAGGTGCAGTTAGGCCACCTGC CCTGACGGAAGTGGTCAGGTGCAGTTAGG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(548): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01169.hp1 others(20): Show HG00642.hp1 HG01074.hp1 HG01169.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG02572.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG03098.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp2 NA18952.hp2 NA18960.hp2 NA18961.hp1 NA18986.hp2 NA19060.hp1 NA19066.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0008t0001 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0035 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0002g0094 a0001c0001t0002g0133 a0001c0001t0003g0005 a0001c0001t0003g0034 a0001c0001t0003g0062 a0001c0001t0004g0046 a0001c0001t0004g0053 a0001c0001t0005g0109 a0001c0001t0005g0123 a0001c0001t0006g0121 a0001c0001t0006g0138 a0001c0002t0001g0017 a0001c0002t0001g0026 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0002g0108 a0001c0002t0002g0120 a0001c0003t0002g0137 a0001c0008t0001g0004 a0002c0005t0002g0134	23	144	0.1597	555	c.354 others(574): Show c.354+10718_354+10719insTTTTTTTTTTTTTTTTTTACAAAAAG GAACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATC ATGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAA AAGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATAC CAACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAA AGACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATA CCCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCAC CAAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAAT TAAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAA ATTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATA GTACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAA AATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82159831	T T	TAAAAAAA others(548): Show TAAAAAAAAGACTGTAATTAAAATATTATTTTGATAAATATTTTCCATGT AATAATATCTGGACTAAATTTCAACAGTACTATCTTTCAGTCCACCTTAC AGTAAGTTTATCTTTTCATATCCCTCTAATTTGCCTCCAGTAAATTATTA GATATCGTATAGCTACTGATTTCTTACTTAATTCCATTGTGGTCAGAAAA CATACTTTGTATGGTTTGTTTCCTTTTTTGGTGAACATAGCATGTACACT TGAAAATCATGTGTATTCTATAGTTGTGGGTATTATTTTGGTTCAGGTGG TTGATAGTGTTGTTCAGATCACTTATGTCTTTTTTGAATTTTGCCTAGCT CTTCTATCAAATGCTGAGGGAAGAGTGTTGGTATCTCTATAATAATGAAA TAATCTATAGCTGCCTTTAATTCTGTTCTTTTTTGCTTCATACATTTTGA TGCTCTATTATTAAGTATACCTGTATTCATGATTTTTATGTCTTTCCTAT GGATGGAACTTTTATCATTGTAAAGTGTTCCTTTTTGTAAAGAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	144	0.0069	555	c.354 others(574): Show c.354+10718_354+10719insTTTTTTTTTTTTTTCTTTACAAAAAG GAACACTTTACAATGATAAAAGTTCCATCCATAGGAAAGACATAAAAATC ATGAATACAGGTATACTTAATAATAGAGCATCAAAATGTATGAAGCAAAA AAGAACAGAATTAAAGGCAGCTATAGATTATTTCATTATTATAGAGATAC CAACACTCTTCCCTCAGCATTTGATAGAAGAGCTAGGCAAAATTCAAAAA AGACATAAGTGATCTGAACAACACTATCAACCACCTGAACCAAAATAATA CCCACAACTATAGAATACACATGATTTTCAAGTGTACATGCTATGTTCAC CAAAAAAGGAAACAAACCATACAAAGTATGTTTTCTGACCACAATGGAAT TAAGTAAGAAATCAGTAGCTATACGATATCTAATAATTTACTGGAGGCAA ATTAGAGGGATATGAAAAGATAAACTTACTGTAAGGTGGACTGAAAGATA GTACTGTTGAAATTTAGTCCAGATATTATTACATGGAAAATATTTATCAA AATAATATTTTAATTACAGTCTTTTTTTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CALN1_chr7_71774491_72417338	72114309	G G	GAAGGGAA others(548): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0091 a0001c0001t0035g0091	1	142	0.0070	555	c.245 others(572): Show c.245-8016_245-8015insGCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255266	A A	ATATATAT others(548): Show ATATATATAATTATATATATAATTTTATATATATATAATTATATATATAA TTTTATATATATAATTATATATATTTTTATATATATATAATTATATATAT ATAATTATATATATTTTTATATATATATAATTATATATATATAATTATAT ATATTTTTATATATATATAATTATATATATATAAAATTATATATATAATT ATATATATATTATATATATAATTATATATATATATTATATATATAATTAT ATATATATATTATATATATAATTTTATATATATATAATTATATATATAAT TTTATATATATAATTATATATATATATAATTATATATATAATTATATATA TATAATTATATATATAATTTTATATATATAATTATATATATAATTTTATA TATATATAATTATATATATAATTTTATATATATATAATTATATATATATA ATTTTATATATAATTTTATATATATAAAATTATATATATAATTATATATA TATAATTATATATATAATTTTATATATAATTATATATATAATTTTATATA TATAAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0044 a0001c0007t0013g0044	1	330	0.0030	555	c.907 others(570): Show c.907+283_907+284insATTATATATATAAAATTATATATATAATTA TATATAAAATTATATATATAATTATATATATATAATTATATATATAATTT TATATATATAAAATTATATATAAAATTATATATATATAATTATATATATA TAAAATTATATATATAATTATATATATATAAAATTATATATATAATTATA TATATAAAATTATATATATAATTATATATATATAATTATATATATAATTA TATATATATATAATTATATATATAAAATTATATATATAATTATATATATA TAAAATTATATATATAATATATATATATAATTATATATATAATATATATA TATAATTATATATATAATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATATAAAAATATATATAATTATATATATATAATTAT ATATATATAAAAATATATATAATTATATATATATAATTATATATATATAA AAATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTATATATATAATTATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(548): Show ATATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATAATTAT ATATATAATTTTATATATAATTATATATATAATTTTATATATATATAATT ATATATATTATATAATTTTATATATATAATTATATATATTATATAATTAT ATATATAATTTTATATATATATAATTATATATACAATTTTATAATATATA TAATTATATATACAATTATATATATATATAATTATATATATATAATTGTA TATATAATTTTATATATATAATTATATATAATTTTATATATATATAATTA TATATATAATTATATATATATAATTATATATATTTATATATATATATAAT TATATATATATAATTATATATATTTATATATATATATAATTATATATATA TAATTATATATATTTATATATATATATAATTATATATATAATTTTATATA TATAATTTTATATAATTTTATATATAATTATATATATAATTTTATATATA TAATTT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp2 NA18969.hp1 NA18969.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0230 a0003c0003t0001g0163 a0003c0003t0001g0230	2	330	0.0061	555	c.907 others(570): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATATA TAAATATATATAATTATATATATATAATTATATATATATATAAATATATA TAATTATATATATATAATTATATATATAATTATATATATATAAAATTATA TATAATTATATATATAAAATTATATATACAATTATATATATATAATTATA TATATATATAATTGTATATATAATTATATATATTATAAAATTGTATATAT AATTATATATATATAAAATTATATATATAATTATATAATATATATAATTA TATATATAAAATTATATAATATATATAATTATATATATATAAAATTATAT ATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATAT ATAATTATATATAAAATTATATATATAATTATATATAAAATTATATATAT AATTATATATAAAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(548): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGAGGGTTGGGGT GGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGGG GGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGT GTGGGGCTGGGAGGGGTGGGTAGGGTGGGGGAAGGGTACGGGTGGGGTTG GGGAGGGGTGGGGTGGGGTGGGAGGGGAGGGGTGGGGTGGAGTGGGGGCT ACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTG GGGTGGAGGAGGGGTGGAGGAGGGGTGGGGAGGGAGGGGTGGGGTGGAAG AAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGG AGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAG GGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTG GGTGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0116 a0001c0001t0033g0116	1	284	0.0035	555	c.712 others(572): Show c.712-2416_712-2415insCCCACCCACACCCCTCCCCCACCCCACC CACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCC CCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC ACCCCACCCCTCCCCCACCCACACCCTTCTTCCACCCCACCCCTCCCTCC CCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC TCCCCTCCCACCCCACCCCACCCCTCCCCAACCCCACCCGTACCCTTCCC CCACCCTACCCACCCCTCCCAGCCCCACACACACCCTTCCCCCACCCCAA CCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACCCCTCCC CCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCAGCCCCAC ACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCC CCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC6_chr10_59783747_59911556	59882359	G G	GGGGAGAA others(548): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAA GGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAG GAAAGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0283 a0001c0001t0031g0283	1	288	0.0035	555	c.303 others(574): Show c.303+23762_303+23763insGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC CCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(548): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	256	0.0039	555	c.-45 others(576): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(548): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA19070.hp2 NA18969.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0170 a0001c0001t0001g0171	2	402	0.0050	555	c.80- others(570): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(548): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	402	0.0025	555	c.80- others(570): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(548): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATAT TTTATT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	402	0.0025	555	c.80- others(570): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT TAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(548): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTC CCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCC TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0177 a0001c0006t0004g0177	1	270	0.0037	555	c.162 others(576): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTC CCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCC CCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCC CCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTC CTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTC CCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(548): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTC CCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTT CCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCC TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0261 a0001c0002t0004g0261	1	270	0.0037	555	c.162 others(576): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCTTCCTCCCCCTCCCCTTCCTCCCCCTCCCCCTTCCTCCCC CTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCC CCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTC CCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCC TCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTC CTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CROCC2_chr2_240901336_240998311	240923645	T T	TCCCCACA others(548): Show TCCCCACACTAACCCAGTCCCCCACACTGACCCGGCCCCCACACTGACCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT GACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACAC TGACCCAGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCC CACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCTCCCCACACTAC CCCGGC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	350	0.0029	555	c.488 others(572): Show c.488+1021_488+1022insCACACTGACCCGGCCCCCACACTGACCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACT GACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACAC TGACCCAGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCC CACACTGACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAG CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCTCCCCACACTAC CCCGGCCCCCACACTAACCCAGTCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(548): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGG AGGGGAGTGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGGAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGG GGAGGGGAAGGGGGAGACAGAGGGGAGGGGGGGGGAAGGGGGAGACAGAG GGGAGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	216	0.0046	555	c.923 others(574): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCC CCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCC TCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCACTCCCCTCCCCCTTCCACTCCCCTCCC CCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCC CCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCCCT CCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTC ATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(548): Show TCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCACC ACCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCACCA CCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCAC CTCCACCACCTCCACCATCACCACCACCACCTCCACCATCACCATCACCA CCACCACCGCCACCACCACCATCACCACCACCTCCACCACCAGCACTTCC ACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCACCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCAC CACCAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0036 a0036	a0036c0123 a0036c0123	a0036c0123t0001 a0036c0123t0001	a0036c0123t0001g0240 a0036c0123t0001g0240	1	256	0.0039	555	c.323 others(574): Show c.3234+1573_3234+1574insCCACCACCTCCACCACCACCACCTCC ACCACCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCTC CACCACCACCACCACCTCCACCACCACCACCACCTCCACCTCCACCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCACCACCTCCACCACCTCCACCATCACCACCACCACCT CCACCATCACCATCACCACCACCACCGCCACCACCACCATCACCACCACC TCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCACCAC CTCCACCATCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCACCACCTCCACCACCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTC CACCACCACCACCTCCACCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP6_chr7_154047398_154899285	154093469	C C	CATCATAT others(548): Show CATCATATACACCACACACAAACCACACACACAAACACAAACACCACACA TACCACGCACACCTACACCCAAAGACACTGTACACCATACACCACACTGT ACACACCACACACCACACCACACCAGCCACCACACATACAGCACACACAC AAACACACCACACACACTACACTATATACCACACACACTCCAAACCCCAC ACACATTACACATCACACCACACACACCAGATAACATACCACACACTACA TACCACATGTACCACACACAACACACATCCGACATACCACACACAGCACA TACCACATACCACATTACATACCACACCACATACCACACATCCTACATAC CACATCATACACACCACACACAACACATACTACACACCCCACAGTACCAC ATACACCACATAACACACTACATGCCACACTTCTTCCATACATCATACAT ACCACAAACATCACACAGCACACAGCACATACCACACATTCCACATACGA CATCATCCACACCACACACACTGCACATATTATACCAACACATCCCACAT TACCAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0024 a0002c0005t0024	a0002c0005t0024g0031 a0002c0005t0024g0031	1	38	0.0263	555	c.243 others(574): Show c.243+40440_243+40441insCACAAACACCACACATACCACGCACA CCTACACCCAAAGACACTGTACACCATACACCACACTGTACACACCACAC ACCACACCACACCAGCCACCACACATACAGCACACACACAAACACACCAC ACACACTACACTATATACCACACACACTCCAAACCCCACACACATTACAC ATCACACCACACACACCAGATAACATACCACACACTACATACCACATGTA CCACACACAACACACATCCGACATACCACACACAGCACATACCACATACC ACATTACATACCACACCACATACCACACATCCTACATACCACATCATACA CACCACACACAACACATACTACACACCCCACAGTACCACATACACCACAT AACACACTACATGCCACACTTCTTCCATACATCATACATACCACAAACAT CACACAGCACACAGCACATACCACACATTCCACATACGACATCATCCACA CCACACACACTGCACATATTATACCAACACATCCCACATTACCATATCAT ATACACCACACACAAACCACACACACAAA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(548): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGT GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTG GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTTTGTGTGGGGTAG AGTTGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0046 a0001c0064t0001g0046	1	192	0.0052	555	c.441 others(574): Show c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA TGTGTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT GGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTG GTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT AGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG TGTGTGTTTGTGTGGGGTAGAGTTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)