Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02280.hp2 HG02559.hp2 others(9): Show HG01517.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG03098.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0004t0001 a0001c0009t0001	a0001c0001t0001g0219 a0001c0002t0001g0090 a0001c0002t0001g0110 others(9): Show a0001c0001t0001g0219 a0001c0002t0001g0090 a0001c0002t0001g0110 a0001c0002t0001g0130 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0004t0001g0145 a0001c0009t0001g0085	12	256	0.0469	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCG CCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0141 a0001c0010t0001g0141	1	256	0.0039	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGG CGGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(706): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATTTAGCTA TATTTATATCAGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGAC AAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATAT AACTACTGTAAATATATATATTATATATATATAAAACCAAAACCAGAAGA CCTAAATATATATATATATATATAAAAAACCAAAACCAGAGGACCTAAAT ATATATATATAAATATATAAATATAAATATATAAATATATATATATAATT ATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATA TATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATAT AAATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTG GTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19088.hp2 NA18947.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0237 a0001c0001t0001g0218 a0001c0001t0001g0237	2	312	0.0064	713	c.293 others(732): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTC TTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAAT ATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTA TATGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195760526	A A	AGTGGAGG others(706): Show AGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCT GGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCA GCACTAGGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGG AGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTG GGAAGGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAG CACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGA GTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAG TGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAG CGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAG TGGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTG GGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCA GCACTAGGATGGAG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0021 a0021	a0021c0097 a0021c0097	a0021c0097t0001 a0021c0097t0001	a0021c0097t0001g0118 a0021c0097t0001g0118	1	249	0.0040	713	c.148 others(732): Show c.14848+357_14848+358insCTCCATCCTAGTGCTGGACACCTTCC CAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGTGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTG CTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTC CCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCAT CCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCAC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203791	A A	ATATAAAT others(706): Show ATATAAATATATATTATATATTTATATATAAATATTTATATATAAATATA TAATATATATTTATATATAAATATTTATATTTTATATATTTATATATTTT ATATATTAATATATAAATATTTATATTTTATATATTTATATATTTTATGA TTTTATAAAATATATAATTTATATAATAATTTTATAAATTATATAATTTA TATATTATATATAATATATTTATATTAAATATACATTTATATATTATATA TAATATATTTATATTAAATATATATTTATATATTATATATAATATATTTA TATTAAATATATTATATATAATATATTTATATTAAATATATTATATATAA TATATTTATATTAAATATTATATATTTATATATTATATATTTATATTAAA TATTATATATTTATGTTATATAATATATTTATATTAAATATTATATATTT ATATATTATATATAATATATTTATATTAAATGTTATATATTTATATATTA TATATAATATATTTATATTAAATGTTATATATTTATATATTATATATAAT ATATTTATATTAAATGTTATATATTTATATATTATATATAATATATTTAT ATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAATA TTATATATTTATATATTATATATATTTATATTGAATATTATATATTTATA TATTATATAAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG01884.hp2 others(2): Show HG00639.hp2 HG01109.hp2 HG01884.hp2 HG02615.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 others(2): Show a0002c0005t0004g0080 a0002c0005t0004g0081 a0002c0005t0004g0083 a0002c0005t0004g0169 a0002c0005t0004g0170	5	170	0.0294	713	c.166 others(732): Show c.1666-6060_1666-6059insAAATATATATTATATATTTATATATA AATATTTATATATAAATATATAATATATATTTATATATAAATATTTATAT TTTATATATTTATATATTTTATATATTAATATATAAATATTTATATTTTA TATATTTATATATTTTATGATTTTATAAAATATATAATTTATATAATAAT TTTATAAATTATATAATTTATATATTATATATAATATATTTATATTAAAT ATACATTTATATATTATATATAATATATTTATATTAAATATATATTTATA TATTATATATAATATATTTATATTAAATATATTATATATAATATATTTAT ATTAAATATATTATATATAATATATTTATATTAAATATTATATATTTATA TATTATATATTTATATTAAATATTATATATTTATGTTATATAATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAA TGTTATATATTTATATATTATATATAATATATTTATATTAAATGTTATAT ATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTATAT ATTATATATAATATATTTATATTAAATATTATATATTTATATATTATATA TAATATATTTATATTAAATATTATATATTTATATATTATATATATTTATA TTGAATATTATATATTTATATATTATATAAATATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158668245	C C	CCTTACCC others(706): Show CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCC ACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGT CCCTCCGCCCCCCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0228 a0001c0005t0001g0228	1	378	0.0027	713	c.147 others(732): Show c.1479+3268_1479+3269insCGGGGGGCGGAGGGACCCAGGGTCGG TAAGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAG GGTAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NT5DC3_chr12_103767310_103846234	103840372	G G	GCTCATCT others(706): Show GCTCATCTCATCTCCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATCTCATC TCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0019 a0001c0004t0002g0019	1	386	0.0026	713	c.208 others(728): Show c.208+576_208+577insATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAGATGAG ATGAGATGAGATGAGATGAGGAGATGAGATGAG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
ODF3_chr11_191761_205258	196508	A A	ACCTGGTG others(706): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	4	388	0.0103	713	c.-54 others(722): Show c.-547_-546insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGG AGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGG GGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGG GACCTGGTGAGGGGACATGGGGGGGAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		252		chr11	TogoVar
PDCD6_chr5_266646_319974	318048	T T	TACCTCCC others(706): Show TACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCC CCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCC CGCCCTCACCCTCCACCTCCCCCCGCACCCTCCACCTCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	360	0.0028	713	c.35 others(724): Show c.3533_*3534insACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCC CCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC TCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCA TCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3075		chr5	TogoVar
PLEKHG4B_chr5_87168_194966	141130	C C	CGCACACC others(706): Show CGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAA CCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACAC CCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCC CACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCT CCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCA CACCCCCATCCCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCC ACCCCCTCCCCACACACCCCCACCCCCTCCCCTGCACACCCCACAACCTC CCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGC ATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCC CCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTC CCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCCCTCCC CGCACACCCCCACCCCCTCCCCGCACACCCCATCCCCTCCCCTGCACACC CCACCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG02897.hp2 others(2): Show HG02258.hp2 HG02451.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2	a0006 a0010 a0006 a0010	a0006c0021 a0006c0071 a0006c0072 others(2): Show a0006c0021 a0006c0071 a0006c0072 a0010c0014 a0010c0069	a0006c0021t0056 a0006c0071t0018 a0006c0072t0036 others(2): Show a0006c0021t0056 a0006c0071t0018 a0006c0072t0036 a0010c0014t0055 a0010c0069t0019	a0006c0021t0056g0199 a0006c0071t0018g0202 a0006c0072t0036g0206 others(2): Show a0006c0021t0056g0199 a0006c0071t0018g0202 a0006c0072t0036g0206 a0010c0014t0055g0201 a0010c0069t0019g0204	5	210	0.0238	713	c.147 others(730): Show c.1477+423_1477+424insACAACCTCCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTG CACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCC CCACCCCCTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCAC TCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCAC ACACGCACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACA CCCCCATCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCCAC CCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCCCACAACCTCCC CTGCACACCCCCACCCCCTCCCCACACACCCCCACCCCCTCCCCTGCACA CCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCC CCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACA CCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACC CCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCATCCCCT CCCCTGCACACCCCACCCCCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(706): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTG GTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGAT GGTAGTTGTGGTGGTAGTGATGATGATGATGACAATGATAATGGTGGTGA TGACAGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	154	0.0065	713	c.-32 others(734): Show c.-320+55543_-320+55544insCACCACCACTGTCATCACCACCAT TATCATTGTCATCATCATCATCACTACCACCACAACTACCATCATCACCA CCATCACCACCACCACAACTACCATCATCACCACCATCACCACCACCACA ACTACCATCATCACCACCATCACCACCACCACAACTACCATCATCACCAC CATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCA TCATCGCCATTATCACCATTACCATTGCCATCACCATCACTACTATCATA ATCACCCTCACCGCCATCACTGCCATCATCACCATTGCCACCACCATCAC CACCATCATTACTATCATCACCACCACCACCATCACTGACATGATCACCA TTACCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCACC GTTACCACCACCACTGCCATCACCACCATCATTACTATCATCATCACCAT CACCACCATCATCGCCATTATCACCATTACCATCGCCATCACCACCATCA CTACTCTCATAATCACCATCACTGCCATCATCACCATTGCCATCACTATC ACCACCATCATGACTATCATCACCATCACCACCACCACCACCATCACTGA CATATAATCACCATTACCACCACCACCATTATCACTGTCATCATCATCTC CATCAATACCACCACCATCATCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555301	A A	ATGATGGT others(706): Show ATGATGGTGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGT GGTGGTAATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGT GATGATAGTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAG TGATGGTGATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTG ATAATGGCGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGT GATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGA CGGCAGTGGTGGTGGTGGTAATGGTGATCATGTCAGTGATGGTGGTGGTG GTGATGATAGTAATGATGGTGGTGATGGTGGTGGCAATGGTGATGATGGC AGTGATGGCGGTGAGGGTGATTATGATAGTAGTGATGGTGATGGCAATGG TAATGGTGATAATGGCGATGATGGTGGTGATGGCAGTGGTGGTGGTAACG GTGGTGATAATAGTGATAATGGTGGTGATGATGGTAGTTGTGGTGGTGGT GATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGG TAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTAGTG ATGATGATGATGACAATGATAATGGTGGTGATGACAGTGGTGGTGGTGGT GGTGATGGTGGTGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	154	0.0065	713	c.-32 others(734): Show c.-320+55524_-320+55525insCCACCACCATCACCACCACCACCA CCACTGTCATCACCACCATTATCATTGTCATCATCATCATCACTACCACC ACAACTACCATCATCACCACCATCACCACCACCACAACTACCATCATCAC CACCATCACCACCACCACAACTACCATCATCACCACCATCACCACCACCA CAACTACCATCATCACCACCATTATCACTATTATCACCACCGTTACCACC ACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCCAT CACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCATCA CCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCACCACC ATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCACCAT TATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCATCA TTACTATCATCATCACCATCACCACCATCATCGCCATTATCACCATTACC ATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTGCCATCAT CACCATTGCCATCACTATCACCACCATCATGACTATCATCACCATCACCA CCACCACCACCATCACTGACATATAATCACCATTACCACCACCACCATTA TCACTGTCATCATCATCTCCATCAATACCACCACCATCA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555308	T T	TGGTGGTA others(706): Show TGGTGGTATTGATGGAGATGATGATGACAGTGATAATGGTGGTGGTGGTA ATGGTGATTATATGTCAGTGATGGTGGTGGTGGTGGTGATGGTGATGATA GTCATGATGGTGGTGATAGTGATGGCAATGGTGATGATGGCAGTGATGGT GATTATGAGAGTAGTGATGGTGGTGATGGCGATGGTAATGGTGATAATGG CGATGATGGTGGTGATGGTGATGATGATAGTAATGATGGTGGTGATGGCA GTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGGCAGT GGTGGTGGTGGTAATGGTGATCATGTCAGTGATGGTGGTGGTGGTGATGA TAGTAATGATGGTGGTGATGGTGGTGGCAATGGTGATGATGGCAGTGATG GCGGTGAGGGTGATTATGATAGTAGTGATGGTGATGGCAATGGTAATGGT GATAATGGCGATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGA TAATAGTGATAATGGTGGTGATGACAGTGGTGGTGGTAACGGTGGTGATG GTGGTGATGATGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGT TGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTGGTGGTGGTGATGG TGGTGATGATGGTAGTTGTGGTGGTAGTGATGATGATGATGACAATGATA ATGGTGGTGATGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	154	0.0065	713	c.-32 others(734): Show c.-320+55517_-320+55518insGTCATCACCACCATTATCATTGTC ATCATCATCATCACTACCACCACAACTACCATCATCACCACCATCACCAC CACCACAACTACCATCATCACCACCATCACCACCACCACAACTACCATCA TCACCACCATCACCACCACCACAACTACCATCATCACCACCATCACCACC GTTACCACCACCACTGTCATCACCACCATTATCACTATTATCACCACCGT TACCACCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCA TTGCCATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCC ATCATCACCATTGCCACCACCATCACCACCATCATTACTATCATCACCAC CACCACCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCA CCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACC ACCATCATTACTATCATCATCACCATCACCACCATCATCGCCATTATCAC CATTACCATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTG CCATCATCACCATTGCCATCACTATCACCACCATCATGACTATCATCACC ATCACCACCACCACCACCATCACTGACATATAATCACCATTACCACCACC ACCATTATCACTGTCATCATCATCTCCATCAATACCACC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	308	0.0033	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCACA TCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCC ATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCATCCCAT CCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCCATCCC ATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATCCACAT CCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTCATTCC ACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATCCCATC CCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGAAGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	308	0.0033	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCTTCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	308	0.0033	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCACA TCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCC ATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGACGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0151 a0008c0012t0001g0151	1	308	0.0033	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCGTCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00423.hp1 others(137): Show HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02970.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0007c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0002g0030 a0001c0001t0002g0137 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0196 a0001c0001t0002g0227 a0001c0001t0002g0299 a0001c0001t0006g0026 a0001c0001t0006g0158 a0001c0001t0006g0173 a0001c0001t0006g0217 a0001c0001t0012g0157 a0001c0001t0013g0176 a0001c0001t0016g0027 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0002g0201 a0002c0002t0002g0207 a0002c0002t0003g0081 a0002c0002t0008g0062 a0007c0011t0001g0146	140	308	0.4546	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02258.hp2 HG02280.hp1 others(6): Show HG01934.hp2 HG02258.hp2 HG02280.hp1 HG02970.hp2 HG02976.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 others(1): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0014	a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0258 others(6): Show a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0265 a0001c0003t0004g0264 a0001c0003t0011g0263 a0001c0003t0014g0261	9	308	0.0292	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	308	0.0033	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03041.hp2 HG01891.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0293 a0001c0004t0001g0294	2	308	0.0065	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(706): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGA TGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGGATGTG GATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGAA TAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGGGATGGAAAGG GATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGAT GTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03225.hp1 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0268 a0001c0003t0004g0269	2	308	0.0065	713	c.-8- others(730): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RIPK1_chr6_3063494_3120187	3091589	T T	TAACCGCA others(706): Show TAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTG CCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAG AGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCC GCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCG CGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTC GGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTAC CTGCCGCACCTCGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	340	0.0029	713	c.915 others(730): Show c.915+1940_915+1941insCGCGCCTACCTGCCGCACCTCGGAACCG CAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGC ACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCG CCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGG AACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCA GAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCAC CTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCC TACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGC GCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCT CGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS21_chr20_62382103_62393520	62382245	G G	GTGATGGT others(706): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTGG TGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGACG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGT GATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGTGAGGATGGTGG TGACGGTGGTCATGATGGTGATGATGGTGGTGATGATGATGGTGATGGTG GTGGTGATGATGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGAT AGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGA TGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATG GTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGT GATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTGGTCATGA TGGTGATGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTG GTCATGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTGAT GATGATGGTGGCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18998.hp1 NA19011.hp1 NA18940.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	412	0.0073	713	c.-49 others(724): Show c.-4910_-4909insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTG GTGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGAT GATGGTGATGGTGGTGATGGTGATGCTGATGGTGGTGGTGATGATGGTGA TGGTGAGGATGGTGGTGACGGTGGTCATGATGGTGATGATGGTGGTGATG ATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAGTGATGATGGAGGT GACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGGTGA TGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTG ATGGTGATGATGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGAT GATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGG TGATGGTGGTCATGATGGTGATGGTGGTGATGGTGGTGACGGTGGTGGTG GTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGATGATGATGGTGGCAA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4857		chr20	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(706): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCC GTCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCC CCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTG TGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0069 a0001c0003t0010g0069	1	196	0.0051	713	c.394 others(730): Show c.3940-538_3940-537insGTGCGGCCCTCACCCCGTCCCCTCTGCG GCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCC TCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCAC CCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCG TCCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCC CTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGT GCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGG CCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCT CACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACC CCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGT CCCCTCTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCC TGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTG CGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTCTGCGGC CCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTC ACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGB1C1_chr11_188078_199575	196508	A A	ACCTGGTG others(706): Show ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02647.hp2 others(1): Show HG02257.hp2 HG02486.hp2 HG02647.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	4	354	0.0113	713	c.20 others(724): Show c.2058_*2059insCCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGA CATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA GGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1934		chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(706): Show CATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATTCCATATATATATTCCATATA TATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	324	0.0031	713	c.115 others(730): Show c.115-2676_115-2675insATGGAATATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGTA AATATATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0150 a0001c0002t0010g0151 a0001c0002t0010g0150 a0001c0002t0010g0151	2	358	0.0056	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAA AATTAGAGTAAATATATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCCCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0170 a0001c0002t0005g0170	1	358	0.0028	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCCCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01884.hp2 HG01891.hp1 others(27): Show HG00558.hp2 HG01884.hp2 HG01891.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03453.hp2 HG04204.hp2 HG06807.hp2 NA18941.hp2 NA18950.hp2 NA18955.hp2 NA18966.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18988.hp2 NA19012.hp2 NA19068.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0005 a0001c0002t0010 a0001c0002t0027 others(5): Show a0001c0002t0005 a0001c0002t0010 a0001c0002t0027 a0001c0002t0044 a0001c0002t0045 a0001c0003t0005 a0001c0003t0046 a0001c0005t0005	a0001c0002t0005g0157 a0001c0002t0005g0158 a0001c0002t0005g0159 others(26): Show a0001c0002t0005g0157 a0001c0002t0005g0158 a0001c0002t0005g0159 a0001c0002t0005g0161 a0001c0002t0005g0162 a0001c0002t0005g0163 a0001c0002t0005g0164 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0168 a0001c0002t0005g0171 a0001c0002t0005g0173 a0001c0002t0005g0174 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0010g0019 a0001c0002t0010g0152 a0001c0002t0027g0297 a0001c0002t0027g0298 a0001c0002t0044g0299 a0001c0002t0045g0172 a0001c0003t0005g0006 a0001c0003t0005g0178 a0001c0003t0005g0179 a0001c0003t0005g0180 a0001c0003t0005g0181 a0001c0003t0046g0182 a0001c0005t0005g0160	30	358	0.0838	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGATGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAAAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18963.hp2 NA19082.hp2 NA18943.hp2 NA18963.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0034 a0001c0001t0016g0343 a0001c0001t0016g0344 a0001c0001t0016g0034 a0001c0001t0016g0343 a0001c0001t0016g0344	3	358	0.0084	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAAAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00673.hp2 others(38): Show HG00438.hp1 HG00544.hp2 HG00673.hp2 HG01099.hp2 HG01167.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02145.hp1 HG03516.hp1 HG03704.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18954.hp1 NA18970.hp1 NA18989.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0026 others(5): Show a0001c0001t0004 a0001c0001t0025 a0001c0001t0026 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052	a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0024 others(38): Show a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0345 a0001c0001t0025g0023 a0001c0001t0025g0026 a0001c0001t0026g0047 a0001c0001t0026g0050 a0001c0001t0048g0022 a0001c0001t0049g0033 a0001c0001t0050g0040 a0001c0001t0051g0057 a0001c0001t0052g0045	41	358	0.1145	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCACGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(90): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02132.hp2 HG02145.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp1 NA18943.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19009.hp1 NA19043.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0004c0009	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(12): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0024 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0004t0002 a0001c0006t0002 a0004c0009t0013	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(86): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0295 a0001c0001t0002g0335 a0001c0001t0006g0003 a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0146 a0001c0001t0009g0071 a0001c0001t0009g0081 a0001c0001t0009g0082 a0001c0001t0009g0085 a0001c0001t0013g0004 a0001c0001t0013g0095 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0014g0103 a0001c0001t0015g0075 a0001c0001t0015g0135 a0001c0001t0015g0136 a0001c0001t0023g0147 a0001c0001t0024g0110 a0001c0001t0024g0118 a0001c0001t0039g0098 a0001c0001t0041g0128 a0001c0001t0042g0148 a0001c0001t0043g0149 a0001c0004t0002g0109 a0001c0004t0002g0126 a0001c0006t0002g0119 a0004c0009t0013g0077	93	358	0.2598	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00673.hp1 others(42): Show HG00280.hp2 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01928.hp2 HG01975.hp2 HG02080.hp2 HG02083.hp2 HG02293.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02965.hp2 HG03041.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp2 NA18522.hp1 NA18612.hp1 NA18944.hp2 NA18971.hp2 NA18979.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19082.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0013 others(1): Show a0001c0001 a0001c0014 a0002c0013 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0038 a0001c0014t0003 a0002c0013t0003 a0003c0007t0003	a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0009 others(39): Show a0001c0001t0001g0280 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0111 a0001c0001t0003g0123 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0325 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0329 a0001c0001t0003g0330 a0001c0001t0003g0334 a0001c0001t0003g0336 a0001c0001t0008g0286 a0001c0001t0011g0197 a0001c0001t0038g0010 a0001c0014t0003g0327 a0002c0013t0003g0309 a0003c0007t0003g0310	45	358	0.1257	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC CAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAACATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0083 a0001c0001t0009g0083	1	358	0.0028	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAACA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(706): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTT TAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCC TAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAG ACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTA AATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTG AGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCA GCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGT CTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTT TTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTT AATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAAT ACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTA GTCCCAGCTACTCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0155 a0001c0001t0021g0155	1	358	0.0028	713	c.308 others(732): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAAGGTAATATAAGTTGCA TAAATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATG CCCTTTGGCCTAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATT AGCAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAA AATTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAA TTTTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGG CGTGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTC CTGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCC CAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCA GGATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGT TTTAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGAT GTGTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(706): Show GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGG AGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGG AGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGG GGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAG GGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGG GAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGGAGGGGGAAG GGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGGGGAGGAG GGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGGAGGGG GAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	713	c.12 others(724): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCCTCCTCTCCC CTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTC CTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTCCCCTCCCCCTC CCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCTCCCTCCTC CCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTC CCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCC TCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCC CTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCC TCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTC CTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCT CCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTT CCTCCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349187	G G	GTCATTCG others(706): Show GTCATTCGCTTGATTCCATTCTCTCTCTCCACACACACTCACGCGCTCTC ATTCGCTTGATTCTGTTCTCTCTCTCCACACACACTCACGCGCTGTCATT CGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGA TTCCGTTCTCTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTC CGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCCTGATTCC GTTCTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGTTCTCTCT CTCTCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCTCTCTCTC CACACACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCCTCCAC ACAACACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTCCACACACAC TCACGCGCTCTCATTCGCTCGATTCCGTTCTCTCTCCACACGCGCTCTCA TTCGCTCGATTCCGTTCTCTCCACACACACTCACGCGCTGTCATTCGCTT GATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCG TTCTCTCCCTCCACACACACTCACGTTCTCATTCATGTGATTCCGTTCTC TCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTCCAC ACACACTCACGCTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp2 HG01975.hp2 others(5): Show HG00735.hp2 HG01099.hp2 HG01975.hp2 HG02129.hp2 HG02132.hp1 NA18968.hp2 NA18969.hp2 NA19064.hp2	a0001 a0005 a0001 a0005	a0001c0009 a0001c0021 a0005c0017 a0001c0009 a0001c0021 a0005c0017	a0001c0009t0005 a0001c0021t0005 a0005c0017t0005 a0001c0009t0005 a0001c0021t0005 a0005c0017t0005	a0001c0009t0005g0091 a0001c0009t0005g0092 a0001c0009t0005g0093 others(5): Show a0001c0009t0005g0091 a0001c0009t0005g0092 a0001c0009t0005g0093 a0001c0009t0005g0094 a0001c0021t0005g0090 a0005c0017t0005g0087 a0005c0017t0005g0088 a0005c0017t0005g0089	8	414	0.0193	713	c.135 others(732): Show c.1355-2231_1355-2230insATTCTCTCTCTCCACACACACTCACG CGCTCTCATTCGCTTGATTCTGTTCTCTCTCTCCACACACACTCACGCGC TGTCATTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATT CGCTTGATTCCGTTCTCTCTCTCTCCACACACACTCACGCTCTCATTCGC TTGATTCCGTTCTCTCTCTCTCCACACACACTCACGCGCTCTCATTCGCC TGATTCCGTTCTCTCTCCACACACACGCACTCTTATTCGCCTGATTCCGT TCTCTCTCTCTCCACACACTCACGCACTCTTATTCGCCTGATTCCGTTCT CTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCGTTCTCTC CCTCCACACAACACTCGCGTTCTCATTCGCGTGATTCCGTTCTCTCTCCA CACACACTCACGCGCTCTCATTCGCTCGATTCCGTTCTCTCTCCACACGC GCTCTCATTCGCTCGATTCCGTTCTCTCCACACACACTCACGCGCTGTCA TTCGCTTGATTCCGTTCTCTCTCCACACACACTCACGCTCTCATTCGCTT GATTCCGTTCTCTCCCTCCACACACACTCACGTTCTCATTCATGTGATTC CGTTCTCTCTCCACACACACTCACGCGCTCTCATTCGCTTGATTCCGTTC TCTCCACACACACTCACGCTCTCATTCGCTTGATTCC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
TAC1_chr7_97727086_97745472	97745310	A A	AAAATAAA others(706): Show AAAATAAAGGGATATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTC CTTTGGGTATATACCCAGTAATGGGATGGCTGGGCCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCATGGACACAGG AAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGGAGGGGGG AGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGT GCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAAT GTGCACATGTACTCTAAAACTTAGAGTATAATAAAAAAAAAAAGAAAGGA AAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG01109.hp1 others(3): Show HG01069.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01934.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0007 a0001c0001t0001g0044	6	428	0.0140	713	c.53 others(724): Show c.5390_*5391insAAATAAAGGGATATTGTTCAATTCCCACCTATGA GTGAGATTATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGA ATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATC ATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCT TAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCT ATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCA GCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGC CAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTC CACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCC TATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGA TTGCATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGG TCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACTCTAAAACTTAGAGTATAATAAA AAAAAAAAGAAAGGAAAAAAAAAAAAAAT	TAC1	ENSG00000006128.12	transcript	ENST00000319273.10	protein_coding		4839		chr7	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(706): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACCCAC CCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCACAC AAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCCCAC ACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCTTCT GCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCCATC CTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02486.hp2 others(5): Show HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 NA19007.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0033 a0003c0005 a0002c0002 a0002c0033 a0003c0005	a0002c0002t0015 a0002c0002t0046 a0002c0002t0047 others(3): Show a0002c0002t0015 a0002c0002t0046 a0002c0002t0047 a0002c0002t0049 a0002c0033t0015 a0003c0005t0001	a0002c0002t0015g0013 a0002c0002t0015g0212 a0002c0002t0046g0214 others(4): Show a0002c0002t0015g0013 a0002c0002t0015g0212 a0002c0002t0046g0214 a0002c0002t0047g0218 a0002c0002t0049g0213 a0002c0033t0015g0080 a0003c0005t0001g0290	8	346	0.0231	713	c.657 others(728): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGT GGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGG ATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGGT GTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCATGG GTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGCAGA TGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGGGTG GATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGTGTG TGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGGAAG GTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGATGG GTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTGGGT GTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAGTGG GTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATGGAT GGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(706): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCCCCGG GACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATCAGACCC CCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03927.hp1 HG02135.hp2 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0076 a0001c0004t0001g0047 a0001c0002t0001g0076 a0001c0004t0001g0047	2	392	0.0051	713	c.228 others(732): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTG TGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGA TGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(706): Show TATAATATACCTATTATATATAAAATATACCTATTATATATAATATACCT ATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATAT ACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATATA ATATACCTATTATATGCATTATATAATATATTATATATAATATGCATATT ATATGTATTATATATTATATATTATATATAATATACATATTATATGTATT ATATATTATATATTATATATATAATATACATATTATATGTATTATATATT ATATATAATATACATATTATATATTATATATTATATACATATTATATATT ATATACATATTATATATTATATACATATTATATATTATATATTATATATT ATATACATATTATACATTATATATATCTAAAATATATAATACACATTATA TATTATATAATACACATTATATATTATATATAATACACATTATATATTAT ATATAATACACATTATATATTATATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATAATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0284 a0001c0009t0007g0284	1	360	0.0028	713	c.62 others(724): Show c.6207_*6208insGTATTATATATTATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTA TATATAATATATAATGTGTATTATATAATATATAATGTGTATTATATATT TTAGATATATATAATGTATAATATGTATATAATATATAATATATAATATA TAATATGTATATAATATATAATATGTATATAATATATAATATGTATATAA TATATAATATATAATATGTATATTATATATAATATATAATACATATAATA TGTATATTATATATATAATATATAATATATAATACATATAATATGTATAT TATATATAATATATAATATATAATACATATAATATGCATATTATATATAA TATATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATA GGTATATTATATATAATGCATATAATAGGTATATTATATATAATGCATAT AATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAATAG GTATATTTTATATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(706): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTAACTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTCAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCACCCCA TCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATC TTCACCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTT CATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCTT CACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACT CCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCC AGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAG CCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCC TCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTC CGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCT TCTTCATCTGCATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0060 a0007c0011t0004g0060	1	170	0.0059	713	c.974 others(732): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTAACTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCA CTCCAGCCTCTATCTTCACCTTCACTCCAGCCTCTATCTTCATCCTTACT CCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCA TCTTCATCCTCACTCCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATC TTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTT CATCCTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCA TCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATC CTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCT CACGCCAGCCTCCTTCTTCATCTGCATGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(706): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTCAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCACCCCA TCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATC TTCACCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTT CATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCTT CACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACT CCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCC AGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAG CCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCC TCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTC CGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCT TCTTCATCTGCATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00639.hp2 others(88): Show HG00140.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18959.hp1 NA18971.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0019 a0020 a0022 a0023 a0024 a0025 a0028 a0030 a0032 a0033	a0001c0001 a0001c0019 a0002c0004 others(62): Show a0001c0001 a0001c0019 a0002c0004 a0002c0006 a0002c0018 a0002c0038 a0002c0045 a0002c0052 a0003c0009 a0003c0010 a0003c0016 a0003c0073 a0003c0084 a0003c0086 a0004c0007 a0004c0008 a0004c0013 a0004c0026 a0005c0005 a0005c0032 a0005c0033 a0005c0034 a0005c0035 a0005c0048 a0005c0051 a0006c0020 a0006c0021 a0006c0022 a0006c0024 a0006c0025 a0006c0053 a0006c0056 a0007c0011 a0007c0017 a0007c0080 a0007c0081 a0007c0087 a0007c0089 a0008c0028 a0008c0077 a0009c0003 a0009c0047 a0010c0015 a0010c0027 a0011c0014 a0011c0058 a0011c0060 a0012c0023 a0012c0055 a0013c0063 a0013c0090 a0014c0068 a0015c0088 a0016c0064 a0018c0030 a0019c0031 a0020c0036 a0022c0041 a0023c0039 a0024c0044 a0025c0054 a0028c0074 a0030c0076 a0032c0091 a0033c0092	a0001c0001t0001 a0001c0001t0006 a0001c0019t0001 others(69): Show a0001c0001t0001 a0001c0001t0006 a0001c0019t0001 a0002c0004t0002 a0002c0004t0003 a0002c0006t0004 a0002c0006t0005 a0002c0018t0002 a0002c0038t0002 a0002c0045t0001 a0002c0052t0002 a0003c0009t0001 a0003c0009t0004 a0003c0010t0003 a0003c0016t0008 a0003c0073t0009 a0003c0084t0002 a0003c0086t0003 a0004c0007t0002 a0004c0008t0003 a0004c0013t0001 a0004c0013t0002 a0004c0026t0002 a0005c0005t0002 a0005c0032t0002 a0005c0033t0002 a0005c0034t0002 a0005c0035t0003 a0005c0048t0002 a0005c0051t0003 a0006c0020t0002 a0006c0021t0002 a0006c0022t0007 a0006c0024t0002 a0006c0025t0005 a0006c0053t0016 a0006c0056t0003 a0007c0011t0004 a0007c0011t0005 a0007c0017t0003 a0007c0080t0002 a0007c0081t0004 a0007c0087t0002 a0007c0089t0005 a0008c0028t0001 a0008c0077t0001 a0009c0003t0001 a0009c0047t0001 a0010c0015t0001 a0010c0015t0011 a0010c0027t0001 a0011c0014t0001 a0011c0058t0001 a0011c0060t0001 a0012c0023t0001 a0012c0055t0001 a0013c0063t0002 a0013c0090t0002 a0014c0068t0003 a0015c0088t0006 a0016c0064t0002 a0018c0030t0001 a0019c0031t0001 a0020c0036t0005 a0022c0041t0001 a0023c0039t0001 a0024c0044t0001 a0025c0054t0001 a0028c0074t0006 a0030c0076t0002 a0032c0091t0001 a0033c0092t0005	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0055 others(88): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0154 a0001c0001t0006g0120 a0001c0019t0001g0041 a0002c0004t0002g0126 a0002c0004t0003g0044 a0002c0004t0003g0052 a0002c0006t0004g0045 a0002c0006t0004g0105 a0002c0006t0005g0102 a0002c0018t0002g0136 a0002c0038t0002g0014 a0002c0045t0001g0144 a0002c0052t0002g0119 a0003c0009t0001g0073 a0003c0009t0004g0039 a0003c0010t0003g0067 a0003c0010t0003g0070 a0003c0010t0003g0164 a0003c0016t0008g0092 a0003c0073t0009g0066 a0003c0084t0002g0151 a0003c0086t0003g0161 a0004c0007t0002g0071 a0004c0008t0003g0074 a0004c0013t0001g0016 a0004c0013t0002g0047 a0004c0026t0002g0137 a0005c0005t0002g0121 a0005c0032t0002g0050 a0005c0033t0002g0001 a0005c0034t0002g0084 a0005c0035t0003g0017 a0005c0048t0002g0115 a0005c0051t0003g0167 a0006c0020t0002g0150 a0006c0021t0002g0002 a0006c0021t0002g0165 a0006c0022t0007g0069 a0006c0024t0002g0087 a0006c0024t0002g0141 a0006c0025t0005g0012 a0006c0053t0016g0080 a0006c0056t0003g0156 a0007c0011t0004g0112 a0007c0011t0005g0111 a0007c0017t0003g0018 a0007c0017t0003g0063 a0007c0017t0003g0086 a0007c0080t0002g0155 a0007c0081t0004g0048 a0007c0087t0002g0077 a0007c0089t0005g0068 a0008c0028t0001g0078 a0008c0077t0001g0147 a0009c0003t0001g0061 a0009c0003t0001g0110 a0009c0003t0001g0135 a0009c0003t0001g0168 a0009c0047t0001g0123 a0010c0015t0001g0056 a0010c0015t0001g0106 a0010c0015t0011g0007 a0010c0027t0001g0152 a0011c0014t0001g0127 a0011c0058t0001g0142 a0011c0060t0001g0109 a0012c0023t0001g0113 a0012c0055t0001g0009 a0013c0063t0002g0082 a0013c0090t0002g0162 a0014c0068t0003g0085 a0015c0088t0006g0116 a0016c0064t0002g0149 a0018c0030t0001g0003 a0019c0031t0001g0040 a0020c0036t0005g0166 a0022c0041t0001g0129 a0023c0039t0001g0169 a0024c0044t0001g0157 a0025c0054t0001g0008 a0028c0074t0006g0038 a0030c0076t0002g0020 a0032c0091t0001g0005 a0033c0092t0005g0019	91	170	0.5353	713	c.974 others(732): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCA CTCCAGCCTCTATCTTCACCTTCACTCCAGCCTCTATCTTCATCCTTACT CCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCA TCTTCATCCTCACTCCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATC TTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTT CATCCTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCA TCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATC CTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCT CACGCCAGCCTCCTTCTTCATCTGCATGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132C_chr12_128262170_128712911	128473334	T T	TCCAGCCT others(706): Show TCCAGCCTCCATCTTTATCTTCACTCCAGTCTCTATCTTCCATCTTCAGT CCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATCTTTATCTTCACTCC AGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTTCATCTTCACTCCAG CCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCATCCTTACTTCAGCC TCTATCTTCATCCTCACTCCAGCCCCTATCTTCATCTTCACTCCACCCCA TCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACTCCAGCCTCTATC TTCGCCTTCACTCCAGCCTCTATCTTCATCCTTACTCCAGCCTCTATCTT CATCCTCACTCCACCCCATCTTCATCTTCACTCCACCCCATCTTCATCTT CACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCACT CCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATCTTCATCTTCACTCC AGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAG CCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCC TCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATCCTCACTCCAGCCTC CGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCTCACGCCAGCCTCCT TCTTCATCTGCATG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp1 HG01361.hp1 others(7): Show HG01070.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG02148.hp1 HG03225.hp2 HG03579.hp2 NA18522.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0029	a0001c0001 a0002c0040 a0003c0009 others(6): Show a0001c0001 a0002c0040 a0003c0009 a0003c0016 a0004c0007 a0004c0061 a0005c0005 a0009c0003 a0029c0075	a0001c0001t0001 a0002c0040t0005 a0003c0009t0004 others(7): Show a0001c0001t0001 a0002c0040t0005 a0003c0009t0004 a0003c0016t0008 a0004c0007t0002 a0004c0007t0017 a0004c0061t0005 a0005c0005t0002 a0009c0003t0001 a0029c0075t0003	a0001c0001t0001g0098 a0002c0040t0005g0097 a0003c0009t0004g0132 others(7): Show a0001c0001t0001g0098 a0002c0040t0005g0097 a0003c0009t0004g0132 a0003c0016t0008g0093 a0004c0007t0002g0090 a0004c0007t0017g0042 a0004c0061t0005g0046 a0005c0005t0002g0146 a0009c0003t0001g0023 a0029c0075t0003g0072	10	170	0.0588	713	c.974 others(732): Show c.974+57723_974+57724insATCTTTATCTTCACTCCAGTCTCTAT CTTCCATCTTCAGTCCAGCCTCTATCTTCATCTTCACTCCAGCTTCCATC TTTATCTTCACTCCAGTCTCTATCTTAATCTTCAGTCCAACCTCTCTCTT CATCTTCACTCCAGCCTCTCTCTTCATCCTCACTGCAGCCTCCATCTTCA TCCTTACTTCAGCCTCTATCTTCATCCTCACTCCAGCCCCTATCTTCATC TTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCATCTTCATCCTCA CTCCAGCCTCTATCTTCGCCTTCACTCCAGCCTCTATCTTCATCCTTACT CCAGCCTCTATCTTCATCCTCACTCCACCCCATCTTCATCTTCACTCCAC CCCATCTTCATCTTCACTCCACCCCATCTTCATCCTCTCTCCAGCCTCCA TCTTCATCCTCACTCCAGCCTCCCTCTTCATCTTCACTCCAGCCTCCATC TTCATCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTT CATCCTCACTCCAGCCTCCATCTTCATCTTCACTCCAGCCTCCGTCTTCA TCTTCACTCCAGCCTCTCTCTTCATCCTCACTCCAGCCTCCATCTTCATC CTCACTCCAGCCTCCGTCTTCATCTTCACTCCAGCCTCTATCTTCATCCT CACGCCAGCCTCCTTCTTCATCTGCATGCCAGCCTCC	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(706): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACAACACCACACACCACACACACACCACCACACAC CACCACACACCACACACACCACCACACACACACCACCACACACACACCAC ACACCACACACACATACACCACCACACACCACCACACACACCACACACAC AACACACACCACCACACACCACACACACCACCACACACACCACCACACAC ACACCACACACCATACACACACTACCACACACCACCACACACCACCACAC ACACACCACACACACAGCACCACACACACACCACCACACACAACACACAC CACACACACCACCACACACATACCACACACACCACCACACACATACACAC CACACCACCACCACATACATACACACCACACACCACCACACACATACACA CCACACACCACACACATACACACCACACACACTACCACCGCATACATACA CACCACACACGCCACCACATACATACCACACACACATACACACCACCCAC ACACCACCACACACACCACCACCACACACACCACCACACACACACCACCA CATACATACACACCACACACATACCACCACACACACACCATCACGCACAC CACCACATACACACACCACAGACATACCACCACACACATACCATCACACA CCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0115 a0001c0022t0115	a0001c0022t0115g0236 a0001c0022t0115g0236	1	244	0.0041	713	c.537 others(730): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGGTGGTGTGTGTGGTGGTGTGTGGGTGGTGTGTA TGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGTGTGTATGTATGCGGT GGTAGTGTGTGTGGTGTGTATGTGTGTGGTGTGTGGTGTGTATGTGTGTG GTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGTGGTGTGTATGTGTGT GGTGGTGTGTGTGGTATGTGTGTGGTGGTGTGTGTGGTGTGTGTTGTGTG TGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGTGTGTGTGTGGTGGTGTGT GGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGTGTGTGTGTGGTGGTGT GTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGTTGTGTGTGTGGTGTG TGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGTGTG GTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGGTGT GTGTGTGGTGTGTGGTGTTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGG TGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(706): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACACCACACACCACACACACACCACCACACACCAC CACACACCACACACACCACCACACACACACCACCACACACACACCACACA CCACACACACATACACCACCACACACCACCACACACACCACACACACAAC ACACACCACCACACACCACACACACCACCACACACACCACCACACACACA CCACACACCATACACACACTACCACACACCACCACACACCACCACACACA CACCACACACACAGCACCACACACACACCACCACACACAACACACACCAC ACACACCACCACACACATACCACCACACACACCACCACACACATACACAC CACACCACCACCACATACATACACACCACACACCACCACACACATACACA CCACACACCACACACATACACACCACACACACTACCACCGCATACATACA CACCACACACGCCACCACATACATACCACACACACATACACACCACCCAC ACACCACCACACACACCACCACCACACACACCACCACACACACACCACCA CATACATACACACCACACACATACCACCACACACACACCATCACGCACAC CACCACATACACACACCACAGACATACCACCACACACATACCATCACACA CCACTACGCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG01074.hp2 others(19): Show HG00099.hp2 HG00408.hp2 HG01074.hp2 HG01496.hp2 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18941.hp1 NA18950.hp1 NA18966.hp1 NA18994.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19064.hp1 NA19082.hp1 NA20752.hp2	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0023 a0043 a0048	a0001c0006 a0001c0010 a0001c0013 others(10): Show a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0019 a0001c0088 a0003c0021 a0003c0030 a0003c0098 a0009c0053 a0023c0027 a0043c0085 a0048c0122	a0001c0006t0005 a0001c0010t0011 a0001c0010t0027 others(17): Show a0001c0006t0005 a0001c0010t0011 a0001c0010t0027 a0001c0010t0028 a0001c0013t0005 a0001c0015t0005 a0001c0015t0011 a0001c0015t0054 a0001c0019t0028 a0001c0019t0057 a0001c0088t0027 a0003c0021t0005 a0003c0030t0029 a0003c0030t0081 a0003c0098t0029 a0009c0053t0056 a0023c0027t0005 a0023c0027t0011 a0043c0085t0011 a0048c0122t0055	a0001c0006t0005g0143 a0001c0010t0011g0018 a0001c0010t0011g0194 others(19): Show a0001c0006t0005g0143 a0001c0010t0011g0018 a0001c0010t0011g0194 a0001c0010t0027g0154 a0001c0010t0028g0183 a0001c0013t0005g0123 a0001c0015t0005g0170 a0001c0015t0011g0156 a0001c0015t0054g0137 a0001c0019t0028g0147 a0001c0019t0057g0195 a0001c0088t0027g0103 a0003c0021t0005g0145 a0003c0021t0005g0173 a0003c0030t0029g0174 a0003c0030t0081g0125 a0003c0098t0029g0135 a0009c0053t0056g0095 a0023c0027t0005g0229 a0023c0027t0011g0188 a0043c0085t0011g0124 a0048c0122t0055g0035	22	244	0.0902	713	c.537 others(730): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGGTGGTGTGTGTGGTGGTGTGTGGGTGGTGTGTA TGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGTGTGTATGTATGCGGT GGTAGTGTGTGTGGTGTGTATGTGTGTGGTGTGTGGTGTGTATGTGTGTG GTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGTGGTGTGTATGTGTGT GGTGGTGTGTGTGGTGGTATGTGTGTGGTGGTGTGTGTGGTGTGTGTTGT GTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGTGTGTGTGTGGTGGTG TGTGGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGTGTGTGTGTGGTGG TGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGTTGTGTGTGTGGT GTGTGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGT GTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGG TGTGTGTGTGGTGTGTGGTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGG TGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217805592	C C	CCACCACA others(706): Show CCACCACACACCACACACACCACCACACACACACCACCACACACACCACC ACACACACCACACACACACCACACACCACACACACACCACCACACACCAC CACACACCACACACACCACCACACACACACCACCACACACACACCACACA CCACACACACATACACCACCACACACCACCACACACACCACACACACAAC ACACACCACCACACACCACACACACCACCACACACACCACCACACACACA CCACACACCATACACACACTACCACACACCACCACACACCACCACACACA CACCACACACACAGCACCACACACACACCACCACACACAACACACACCAC ATACACCACCACACACATACCACCACACACACCACCACACACATACACAC CACACCACCACCACATACATACACACCACACACCACCACACACATACACA CCACACACCACACACATACACACCACACACACTACCACCGCATACATACA CACCACACACGCCACCACATACATACCACACACACATACACACCACCCAC ACACCACCACACACACCACCACCACACACACCACCACACACACACCACCA CATACATACACACCACACACATACCACCACACACACACCATCACGCACAC CACCACATACACACACCACAGACATACCACCACACACATACCATCACACA CCACTACGCACACA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0035 a0035	a0035c0087 a0035c0087	a0035c0087t0005 a0035c0087t0005	a0035c0087t0005g0133 a0035c0087t0005g0133	1	244	0.0041	713	c.537 others(730): Show c.5376-990_5376-989insTGTGTGCGTAGTGGTGTGTGATGGTATG TGTGTGGTGGTATGTCTGTGGTGTGTGTATGTGGTGGTGTGCGTGATGGT GTGTGTGTGGTGGTATGTGTGTGGTGTGTATGTATGTGGTGGTGTGTGTG TGGTGGTGTGTGTGGTGGTGGTGTGTGTGGTGGTGTGTGGGTGGTGTGTA TGTGTGTGTGGTATGTATGTGGTGGCGTGTGTGGTGTGTATGTATGCGGT GGTAGTGTGTGTGGTGTGTATGTGTGTGGTGTGTGGTGTGTATGTGTGTG GTGGTGTGTGGTGTGTATGTATGTGGTGGTGGTGTGGTGTGTATGTGTGT GGTGGTGTGTGTGGTGGTATGTGTGTGGTGGTGTATGTGGTGTGTGTTGT GTGTGGTGGTGTGTGTGTGGTGCTGTGTGTGTGGTGTGTGTGTGGTGGTG TGTGGTGGTGTGTGGTAGTGTGTGTATGGTGTGTGGTGTGTGTGTGGTGG TGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGTTGTGTGTGTGGT GTGTGTGGTGGTGTGTGGTGGTGTATGTGTGTGTGGTGTGTGGTGTGTGT GTGGTGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTGGTGTGTGGTGG TGTGTGTGTGGTGTGTGGTGTGTGTGTGGTGTGTGTGGTGGTGTGTGTGG TGGTGTGTGTGTGGTGGTGTGTGTGGTGTGTGGTG	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	32/32			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CACCACAC others(706): Show CACCACACCCCATACACACCCACACCCCACACACCACACCCCCACACACA CCACACACCCCACACACACCACCACCCATACACACCACACCCCACACACA CCACACCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACACCCCACACACACCACACACCCCACACACAC CACACCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACACCCCACACACACCACACCCCACACACCAC CACACCCCGCACACACACCACACCCCATACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACACCCCACACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACCACAC ACACCACACCCCACACACACCACACCCCACACACCCACACACACCACACA CCCCACACACACCACACACACCACACACCCCACACACACCACACACACCA CACACACCACACCCCACACACACACACCCACACACACCACACCCCACACA CACCACACACACACCCCCACACACACCACACACACCACAGCCCACACACA CCACACACACCACA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	338	0.0030	713	c.35 others(732): Show c.35+21564_*35+21565insACCACACCCCATACACACCCACACCC CACACACCACACCCCCACACACACCACACACCCCACACACACCACCACCC ATACACACCACACCCCACACACACCACACCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCATACACACCACACACCCCACA CACACCACACACCCCACACACACCACACCCACACACACCACACCCCATAC ACACCACACCCCATACACACCACACCCCACACACACCACACACACCCCAC ACACACCACACCCCACACACCACCACACCCCGCACACACACCACACCCCA TACACACCACACACCCCACACACACCACACACCCCACACACACCACACAC CCCACACACACCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCACACACCACACACACCACACCCCACACACACCACACCC CACACACCCACACACACCACACACCCCACACACACCACACACACCACACA CCCCACACACACCACACACACCACACACACCACACCCCACACACACACAC CCACACACACCACACCCCACACACACCACACACACACCCCCACACACACC ACACACACCACAGCCCACACACACCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(706): Show GGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	341	0.0029	713	c.24 others(722): Show c.245_*246insGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar

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Search Results (Total: 8931 hits)