Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MLPH_chr2_237482251_237560322	237544247	T T	TGGGGGGA others(585): Show TGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAG TGGGCATGGTAGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGGGGACAGTG GTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTG GTGAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACA GTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGG GGACAGTGGTGAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG GACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGTGAGTGGA GGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTT GGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTGGTGAGTG GAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTG AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0036 a0036	a0036c0031 a0036c0031	a0036c0031t0001 a0036c0031t0001	a0036c0031t0001g0051 a0036c0031t0001g0051	1	258	0.0039	592	c.153 others(611): Show c.1539+1592_1539+1593insGGACAGTGGCAAGTGGGCACAGTGGT GAGTGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGGGGGGACAGTGGT GAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGAGTGGGCACGGTG GTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGAC ATTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACAGTGGTGAGTG GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCATGGTAGTGAGTGG GGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTTGGGGGGACAGTGGTGAGTGGGGGGATGGTGA GTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACA GTGGTGAGTGGAGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(585): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGGGGAGGGGGGAG GGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGG GGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGA GTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	8	0.1250	592	c.250 others(607): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NAALADL2_chr3_174854334_175815548	175670392	A A	ATTATATT others(585): Show ATTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAA TTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTA TATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATA TTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATT TAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATA TTAAATTTACATTAAATGTAAATTTAATATATTTATATTAAATTTACATT AAATGTAAATTTAATATATTTATATTAAATTTACATTAAATGTAAATTTA ATATATTTATATTAAATTTACATTAAATGTAAATTTAATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0043 a0008c0018t0001g0043	1	61	0.0164	592	c.189 others(613): Show c.1896+43020_1896+43021insTATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAA TTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTA TATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATA TTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATT TAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATA TTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATT AAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTA ATATATTTATATTAAATTTACATTAAATGTAAATTTAATATATTTATATT AAATTTACATTAAATGTAAATTTAATATATTTATATTAAATTTACATTAA ATGTAAATTTAATATATTTATATTAAATTTACATTAAATGTAAATTTAAT ATATTTATATTAAATTTA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEU4_chr2_241804193_241822413	241805669	A A	ACCCTCCC others(585): Show ACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCC CTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCCGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0143 a0002c0003t0002g0143	1	216	0.0046	592	c.-36 others(603): Show c.-3609_-3608insCCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAAC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACGTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3523		chr2	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(585): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTAGTTTATATAGTTTAAAACTATAGTTTATATAGTTTAAA ACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTTT TAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAA CTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTA GTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTT TTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0195 a0002c0007t0001g0195	1	38	0.0263	592	c.342 others(611): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATAAACTATATAGTTTAAAACTATATAGTTTAAAACTATAA ACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GACGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGAG AGGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0212 a0001c0003t0014g0212	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCGTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGA AGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAG AGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0052 a0001c0004t0052	a0001c0004t0052g0279 a0001c0004t0052g0279	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCCTTTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCAT CCCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAGA AGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0262 a0001c0004t0001g0262	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCCTCCCTTCTCCCTCCCCCAT CCCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGAGGGGGATGGGGAGGGGGAGGGGGGAGGGAG AAGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0297 a0001c0004t0001g0297	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCATCCCCCTCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAG AAGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0275 a0001c0004t0001g0275	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CCTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(585): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGAG AAGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGA GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGG GAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGG GAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0283 a0001c0004t0001g0283	1	142	0.0070	592	c.154 others(609): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTC CCCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATC CCCTCCCCCTCCCTTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCCATCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCATCCTCCTCCCTCCCCCTTCTCCGTCCTC CTTCCTCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(585): Show TCCTCCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0058 a0001c0002t0058	a0001c0002t0058g0106 a0001c0002t0058g0106	1	206	0.0049	592	c.433 others(609): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGGAGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(585): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	254	0.0039	592	c.-16 others(603): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(585): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0098 a0001c0001t0001g0097 a0001c0001t0002g0098	2	255	0.0078	592	c.-16 others(603): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(585): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTAGAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTAGAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	254	0.0039	592	c.-16 others(603): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTAGAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTAGAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(585): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATACTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	254	0.0039	592	c.-16 others(603): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATACTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(585): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18981.hp2 NA19011.hp1 others(2): Show NA18747.hp2 NA18981.hp2 NA19011.hp1 NA19074.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0193 a0001c0001t0002g0012 a0001c0001t0002g0026 others(1): Show a0001c0001t0001g0193 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0003t0001g0003	5	258	0.0194	592	c.-16 others(603): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237783	A A	ATAGTATA others(585): Show ATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTATAT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCT ATAGTATATATAGTATATATAGTATATATACTATATGTACTATATAGTAC ATATAGTATATATACTATATGTACTATATAGTATATATACTATATATAGT ATATATACTATATAGTACATATAGTATATATAGTATATATAGTATATAGT ACATATAGTATATATAGTATATATAGTATATAGTACATATAGTATATATA GTATATATAGTATATAGTATATATTTTATAGTATATATAGTATATATACT ATATAGTATATATTATATAGTATATATACTATAAAGTACATAATTTATAT ATTACATATAATACATAATATATATTTATATATTATATTAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	312	0.0032	592	c.-15 others(603): Show c.-1560_-1559insTAGTATATATACTCTATAGTATATATAGTATATA TACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTATA TGTACTATATAGTACATATAGTATATATACTATATGTACTATATAGTATA TATACTATATATAGTATATATACTATATAGTACATATAGTATATATAGTA TATATAGTATATAGTACATATAGTATATATAGTATATATAGTATATAGTA CATATAGTATATATAGTATATATAGTATATAGTATATATTTTATAGTATA TATAGTATATATACTATATAGTATATATTATATAGTATATATACTATAAA GTACATAATTTATATATTACATATAATACATAATATATATTTATATATTA TATTAAAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1502		chr14	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(585): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTG CCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCAC CCACTGCCCAGATACGGACCTGGCCCACCCACTGCCCAGATATGGACCCC CCCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	177	0.0056	592	c.471 others(607): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCA CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCCACCCACTGCCC AGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGC CCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGA TACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(585): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	592	c.-26 others(603): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(585): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	592	c.-26 others(603): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTA TAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTC TATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(585): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	592	c.-26 others(603): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(585): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATTATA TATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGG AATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCT TATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(38): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02698.hp2 HG02738.hp1 HG03831.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19081.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0001t0028 a0002c0002t0001 a0003c0003t0009 a0003c0003t0017	a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0069 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0172 a0001c0001t0001g0316 a0001c0001t0003g0174 a0001c0001t0003g0272 a0001c0001t0003g0288 a0001c0001t0003g0315 a0001c0001t0007g0122 a0001c0001t0007g0148 a0001c0001t0007g0149 a0001c0001t0007g0175 a0001c0001t0014g0130 a0001c0001t0018g0015 a0001c0001t0028g0102 a0002c0002t0001g0039 a0003c0003t0009g0101 a0003c0003t0017g0128	41	103	0.3981	592	c.98- others(607): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGACTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATATTATATATGCATAT TATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTT AGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGT TAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTC ACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(585): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTATATATATATATATATAATA TATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGG AATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCT TATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	2	64	0.0313	592	c.98- others(607): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTATATATATATATATATAATATATGCATAT TATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTT AGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGT TAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTC ACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(585): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTATATATATATATATATTATA TATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGG AATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCT TATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02145.hp2 others(14): Show HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp2 NA18522.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0024 a0001c0001t0032 a0004c0004t0005	a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0062 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0002g0237 a0001c0001t0003g0310 a0001c0001t0005g0063 a0001c0001t0005g0203 a0001c0001t0006g0283 a0001c0001t0008g0176 a0001c0001t0024g0269 a0001c0001t0032g0173 a0004c0004t0005g0184	17	79	0.2152	592	c.98- others(607): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTATATATATATATATATTATATATGCATAT TATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTT AGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGT TAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTC ACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(585): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATATTATA TATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGG AATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCT TATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02523.hp1 HG03710.hp1 others(2): Show HG02165.hp1 HG02523.hp1 HG03710.hp1 NA19000.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0025 a0001c0001t0027	a0001c0001t0001g0086 a0001c0001t0001g0157 a0001c0001t0007g0104 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0157 a0001c0001t0007g0104 a0001c0001t0025g0017 a0001c0001t0027g0044	5	67	0.0746	592	c.98- others(607): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATATTATATATGCATAT TATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTT AGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGT TAGGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTC ACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPM1L_chr3_160751231_161083902	160945125	C C	CTATAACA others(585): Show CTATAACATGTTATATATAACTATCTATAACATGTTATATATAACTATCT ATAACATGTTATATATAACTATCTATAACATGTTATATATAACTATCTAT AACATGTTATATATAACTATCTATAACATGTTATATATAACTATAACATG TTATATATAACTATAACATGTTATATATAACTATAACATGTTATATATAA CTATAACATGTTATATATAACTATAACATGTTATATATAACTATAACATG TTATATATAACTATAACATGTTATATATAACTATAACATGTTATATATAA CTATAACATGTTATATATAACTATCTATAACATGTTATATATAACTATCT ATAACATGTTATATATAACTATCTATAACATGTTATATATAACTATCTAT AACATGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAA CATGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACA TGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACATG TTATATATAACTATCTATAACATGTTATATATAACATATATGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0118 a0001c0001t0024g0118	1	170	0.0059	592	c.400 others(611): Show c.400-16608_400-16607insAACATGTTATATATAACTATCTATAA CATGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACA TGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACATG TTATATATAACTATAACATGTTATATATAACTATAACATGTTATATATAA CTATAACATGTTATATATAACTATAACATGTTATATATAACTATAACATG TTATATATAACTATAACATGTTATATATAACTATAACATGTTATATATAA CTATAACATGTTATATATAACTATAACATGTTATATATAACTATCTATAA CATGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACA TGTTATATATAACTATCTATAACATGTTATATATAACTATCTATAACATG TTATATATAACTATCTATAACATGTTATATATAACTATCTATAACATGTT ATATATAACTATCTATAACATGTTATATATAACTATCTATAACATGTTAT ATATAACTATCTATAACATGTTATATATAACTATCTATAACATGTTATAT ATAACATATATGTTAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACCCCACA others(585): Show ACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACA GCAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAG CCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCC CCGTAGCCCCCACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCC ACAGCCCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCC CACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAG CCCCCACAGCAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCACA GCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCC CCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAG CCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCCACAGCCC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	34	0.0294	592	c.56- others(609): Show c.56-26073_56-26072insGGGCTGTGGGGGGGCTGCTGTGGGGGGG CTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTG TGGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGG GGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGG CTGTGGGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGG CTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTG GGGTGGGGGCTACGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTG GGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GCTGTGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTG GGGGGGCTGTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(585): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCT TCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	79	0.0127	592	c.-32 others(613): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(585): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 HG01361.hp2 others(19): Show HG00639.hp2 HG01255.hp1 HG01361.hp2 HG01981.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 NA18939.hp1 NA19009.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0003 a0001c0004 a0001c0007 others(7): Show a0001c0003 a0001c0004 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0002c0006 a0002c0026 a0003c0008 a0007c0025	a0001c0003t0004 a0001c0003t0012 a0001c0003t0015 others(10): Show a0001c0003t0004 a0001c0003t0012 a0001c0003t0015 a0001c0004t0005 a0001c0007t0001 a0001c0009t0004 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0002c0006t0003 a0002c0026t0008 a0003c0008t0001 a0007c0025t0007	a0001c0003t0004g0006 a0001c0003t0004g0034 a0001c0003t0004g0035 others(19): Show a0001c0003t0004g0006 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0040 a0001c0003t0004g0078 a0001c0003t0012g0017 a0001c0003t0012g0021 a0001c0003t0015g0147 a0001c0004t0005g0122 a0001c0007t0001g0007 a0001c0009t0004g0015 a0001c0010t0007g0025 a0001c0010t0013g0023 a0001c0011t0007g0026 a0001c0011t0007g0028 a0002c0006t0003g0139 a0002c0026t0008g0140 a0003c0008t0001g0005 a0003c0008t0001g0030 a0003c0008t0001g0070 a0003c0008t0001g0071 a0007c0025t0007g0024	22	26	0.8462	592	c.880 others(609): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(585): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCAC CCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	8	0.1250	592	c.937 others(609): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACAC ACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAC CCACCCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCC ATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(585): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAAC CCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCAC ACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	8	0.1250	592	c.937 others(609): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACCCATCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCAT TCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACACACCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCAC CCACCCACCCACCCACCCATCCATCCACCCACCCACCCATCCATCCATCC ATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(585): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCACCCCTTCCACCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0144 a0001c0001t0009g0144	1	40	0.0250	592	c.77- others(609): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCACTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCACCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTC CCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(585): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCC ACCCCCTCCCTATCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCACCCCTTCCACCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCCCACCCC TTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	45	0.0222	592	c.22+ others(609): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCACTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC CTCCCCACCCCCTCCCTATCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCACCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCCCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTC CCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC35E2B_chr1_1656478_1697795	1660731	A A	AGCCTCAG others(585): Show AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCT GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACTGTGTTCGC CAGGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCC AGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTT TTTCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGA TCTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCC TCCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCC CGGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCC AGGATGGTCTTGATCTCGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGA GAAATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTT GGGTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18969.hp2 NA18959.hp2 NA18969.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0031 a0003c0006t0016 a0003c0006t0031	a0003c0006t0016g0227 a0003c0006t0031g0178 a0003c0006t0016g0227 a0003c0006t0031g0178	2	339	0.0059	592	c.50 others(603): Show c.5050_*5051insAGGAGAATCACTTGAACCTGGGAGGTGGAAGCTG CAGTTACCCAAAATTGTGTCACTCTACTCCAGCCTGGGTGACACAGTGAG ACTTATTTCTCAAAAAAAAGGGCAGGGTGCTGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCACGAGATCAA GACCATCCTGGCTAACACAGTGAAACCCGGTCTCAACTAAAAATACAAAA AATTAGCCGGGCATGGTGGCCCAGCTACTCTGGAGCCTAAGATGGGAGAA TGGAGTGGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAAT GAGCGGAGATCCCGCCACTGCCCTCCAGCCTGGGCCAGAGCGAGTCTCCC TATCAGAAAAAATAAAAATAGCTAGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTCTGGGAGGCCAAGGCGGGCGAATCACAAGGTAAGGAGATCGAG ACCATCCTGGCGAACACAGTGAAACCCCGTCTCTACTAAAAAAATACAAA AAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGC	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding		746		chr1	TogoVar
SLC35E2B_chr1_1656478_1697795	1660731	A A	AGCCTCAG others(585): Show AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCT GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACTGTGTTCGC CAGGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCC AGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTT TTTCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGA TCTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCC TCCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCC CGGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCC AGGATGGTCTTGATCTTGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGA GAAATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTT GGGTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA19087.hp1 NA18954.hp2 NA19087.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0016	a0003c0006t0016g0244 a0003c0006t0016g0245 a0003c0006t0016g0244 a0003c0006t0016g0245	2	339	0.0059	592	c.50 others(603): Show c.5050_*5051insAGGAGAATCACTTGAACCTGGGAGGTGGAAGCTG CAGTTACCCAAAATTGTGTCACTCTACTCCAGCCTGGGTGACACAGTGAG ACTTATTTCTCAAAAAAAAGGGCAGGGTGCTGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCACAAGATCAA GACCATCCTGGCTAACACAGTGAAACCCGGTCTCAACTAAAAATACAAAA AATTAGCCGGGCATGGTGGCCCAGCTACTCTGGAGCCTAAGATGGGAGAA TGGAGTGGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAAT GAGCGGAGATCCCGCCACTGCCCTCCAGCCTGGGCCAGAGCGAGTCTCCC TATCAGAAAAAATAAAAATAGCTAGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTCTGGGAGGCCAAGGCGGGCGAATCACAAGGTAAGGAGATCGAG ACCATCCTGGCGAACACAGTGAAACCCCGTCTCTACTAAAAAAATACAAA AAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGC	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding		746		chr1	TogoVar
SLC35E2B_chr1_1656478_1697795	1660731	A A	AGCCTCAG others(585): Show AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCT GGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTTCACTGTGTTCGC CAGGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCC AGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTT TTTTTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGA TCTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCC TCCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCC CGGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCC AGGATGGTCTTGATCTTGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGA GAAATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTT GGGTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02155.hp2 NA18978.hp1 others(1): Show HG02074.hp2 HG02155.hp2 NA18978.hp1 NA18998.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0016 a0003c0006t0031 a0003c0006t0048 a0003c0006t0016 a0003c0006t0031 a0003c0006t0048	a0003c0006t0016g0243 a0003c0006t0016g0293 a0003c0006t0031g0179 others(1): Show a0003c0006t0016g0243 a0003c0006t0016g0293 a0003c0006t0031g0179 a0003c0006t0048g0049	4	341	0.0117	592	c.50 others(603): Show c.5050_*5051insAGGAGAATCACTTGAACCTGGGAGGTGGAAGCTG CAGTTACCCAAAATTGTGTCACTCTACTCCAGCCTGGGTGACACAGTGAG ACTTATTTCTCAAAAAAAAGGGCAGGGTGCTGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACGAGGTCACAAGATCAA GACCATCCTGGCTAACACAGTGAAACCCGGTCTCAACTAAAAATACAAAA AATTAGCCGGGCATGGTGGCCCAGCTACTCTGGAGCCTAAGATGGGAGAA TGGAGTGGAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAAT GAGCGGAGATCCCGCCACTGCCCTCCAGCCTGGGCCAGAGCGAGTCTCCC TATCAAAAAAAATAAAAATAGCTAGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTCTGGGAGGCCAAGGCGGGCGAATCACAAGGTAAGGAGATCGAG ACCATCCTGGCGAACACAGTGAAACCCCGTCTCTACTAAAAAAATACAAA AAATTAGCCAGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGC	SLC35E2B	ENSG00000189339.12	transcript	ENST00000617444.5	protein_coding		746		chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(585): Show CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18747.hp2 NA19003.hp1 HG02027.hp1 NA18747.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0187 a0001c0001t0002g0079 a0001c0002t0003g0244 a0001c0001t0001g0187 a0001c0001t0002g0079 a0001c0002t0003g0244	3	189	0.0159	592	c.654 others(607): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGTGGGCAGCGGTGGGTA CCCAGCACCGTGAGCAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTG GGCAGTACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGG CACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGG CACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTG GGCAGCACTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCATG GGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMCO1_chr3_196501879_196520346	196511597	G G	GGCCACCT others(585): Show GGCCACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATT GTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCCTTATGAGGG AAACCTGCCTGGGCCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGG CCGCCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCGCCTAGATTGT CCTTATGAGGGAAACTTGCCTGAGCCACCTAGATTGTCCTTATGAGGGAA ACCTGCCTGGGCCACCTAGATTGTCTTTATGAGGGAAACTTGCCTGAGCC ACCTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCC TTATGAGGGAAACTTGCCTGGGCCACCTAGATTGTCTTTATGAGGGAAAC TTGCCTGCGCCAAGTAGATTGTTGTTATGAGGGAAACCTGCCTGGGCCAC CTAGATTGTCCTTATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCGTT ATGAGGGAAACCTGCCTGGGCCACCTAGATTGTCCTTATGAGGGAAACCT GCCTGGGCCACCTAGATTGTCCTTATGAGGGAAACCTGCCTGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0055 a0004c0004t0006g0055	1	396	0.0025	592	c.51- others(607): Show c.51-1929_51-1928insTCAGGCAGGTTTCCCTCATAAGGACAATCT AGGTGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGTGGCCCAGGC AGGTTTCCCTCATAACGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCAT AAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCATAACAACAATCTAC TTGGCGCAGGCAAGTTTCCCTCATAAAGACAATCTAGGTGGCCCAGGCAA GTTTCCCTCATAAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCATAA GGACAATCTAGGTGGCTCAGGCAAGTTTCCCTCATAAAGACAATCTAGGT GGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGTGGCTCAGGCAAGT TTCCCTCATAAGGACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGG ACAATCTAGGCGGCCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGCGG CCCAGGCAGGTTTCCCTCATAAGGACAATCTAGGTGGCCCAGGCAGGTTT CCCTCATAAGGACAATCTAGGTGGCCCAGGCAGGTTTCCCTCATAAGGAC AATCTAGGTGGC	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding	1/2			chr3	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(585): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATAATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATATTATAATATATAATATATAATATATTATAATATATAATATATT ATATATTATAATATATAATATATTATATATTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAAAATATTATATTT TATAATATATAAAATATTATATTTTATAATATATAAAATATATTATATTT TATAATATATAAAATATATTATATTTTATAATATATAATATATATTATAT TTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18980.hp1 NA18945.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	162	0.0123	592	c.17 others(611): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATATA ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAATATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATTATATATTA TATATTATAATATATAATATATTATATATTATAAAATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATTATATATTATATATTATAAAATATAATATATATTATATATTAT AATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(585): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATATTATAATATATAATATA TAATATATTATAATATATAATATATTATATATTATAATATATAATATATT ATATATTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATATTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATATTT TATAATATATAAAATATATTATATTTTATAATATATAAAATATATTATAT TTTATAATATATAATATATATTATATTTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	161	0.0062	592	c.17 others(611): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATTTTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAATATATAATATATTATATATTATAAAATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATTATATATTATATATTATAATATATAATATATTATA TATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATATTATATATTATAAAATATAATATATATTATATATTAT AATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(585): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCACCC ACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCC ATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATC TCCCATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCA CCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACC CCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTC CATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCA CCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCA CCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCA CCCATCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCA CCCACCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	28	0.0357	592	c.113 others(611): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCCC CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCC ATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCAT CATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCAT CATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCA TCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCT ACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCT ACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCC ACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCT ATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATAGACACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19074.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0009 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014 a0001c0021 a0001c0022 a0001c0028 a0002c0011 a0007c0016 a0009c0031 a0011c0012 a0012c0019 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(105): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0051 a0001c0001t0052 a0001c0001t0064 a0001c0001t0072 a0001c0001t0074 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0002t0025 a0001c0002t0028 a0001c0002t0031 a0001c0002t0032 a0001c0002t0035 a0001c0002t0042 a0001c0002t0045 a0001c0002t0050 a0001c0002t0066 a0001c0002t0075 a0001c0002t0077 a0001c0002t0085 a0001c0002t0095 a0001c0002t0097 a0001c0002t0099 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0014 a0001c0003t0020 a0001c0003t0021 a0001c0003t0027 a0001c0003t0046 a0001c0003t0079 a0001c0003t0093 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0018 a0001c0004t0019 a0001c0004t0022 a0001c0004t0032 a0001c0004t0059 a0001c0005t0001 a0001c0006t0001 a0001c0006t0003 a0001c0006t0004 a0001c0006t0071 a0001c0007t0013 a0001c0009t0002 a0001c0009t0028 a0001c0010t0033 a0001c0010t0083 a0001c0014t0086 a0001c0021t0067 a0001c0022t0081 a0001c0028t0018 a0002c0011t0016 a0007c0016t0056 a0009c0031t0005 a0011c0012t0007 a0012c0019t0055 a0013c0015t0001	a0001c0001t0001g0011 a0001c0001t0001g0324 a0001c0001t0001g0325 others(183): Show a0001c0001t0001g0011 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0002g0061 a0001c0001t0002g0182 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0213 a0001c0001t0002g0233 a0001c0001t0003g0006 a0001c0001t0003g0026 a0001c0001t0003g0060 a0001c0001t0003g0063 a0001c0001t0003g0131 a0001c0001t0003g0164 a0001c0001t0003g0205 a0001c0001t0003g0327 a0001c0001t0003g0329 a0001c0001t0004g0009 a0001c0001t0004g0020 a0001c0001t0004g0138 a0001c0001t0004g0212 a0001c0001t0004g0215 a0001c0001t0005g0017 a0001c0001t0005g0206 a0001c0001t0005g0273 a0001c0001t0006g0014 a0001c0001t0006g0142 a0001c0001t0006g0267 a0001c0001t0007g0153 a0001c0001t0007g0192 a0001c0001t0007g0210 a0001c0001t0008g0197 a0001c0001t0008g0275 a0001c0001t0008g0276 a0001c0001t0008g0279 a0001c0001t0008g0293 a0001c0001t0010g0122 a0001c0001t0011g0161 a0001c0001t0011g0278 a0001c0001t0012g0012 a0001c0001t0012g0044 a0001c0001t0012g0201 a0001c0001t0012g0236 a0001c0001t0013g0039 a0001c0001t0014g0117 a0001c0001t0015g0013 a0001c0001t0016g0178 a0001c0001t0016g0224 a0001c0001t0017g0314 a0001c0001t0020g0054 a0001c0001t0020g0064 a0001c0001t0020g0217 a0001c0001t0021g0055 a0001c0001t0024g0010 a0001c0001t0024g0137 a0001c0001t0026g0297 a0001c0001t0026g0298 a0001c0001t0030g0202 a0001c0001t0031g0200 a0001c0001t0035g0067 a0001c0001t0036g0277 a0001c0001t0036g0280 a0001c0001t0037g0315 a0001c0001t0038g0316 a0001c0001t0039g0319 a0001c0001t0039g0331 a0001c0001t0047g0066 a0001c0001t0051g0022 a0001c0001t0052g0008 a0001c0001t0064g0181 a0001c0001t0072g0025 a0001c0001t0074g0330 a0001c0001t0087g0232 a0001c0001t0088g0141 a0001c0001t0089g0037 a0001c0001t0090g0193 a0001c0001t0096g0047 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0150 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0209 a0001c0002t0002g0120 a0001c0002t0003g0129 a0001c0002t0003g0134 a0001c0002t0003g0143 a0001c0002t0003g0175 a0001c0002t0005g0176 a0001c0002t0006g0242 a0001c0002t0007g0118 a0001c0002t0008g0133 a0001c0002t0008g0158 a0001c0002t0008g0159 a0001c0002t0009g0160 a0001c0002t0009g0162 a0001c0002t0009g0305 a0001c0002t0010g0127 a0001c0002t0010g0145 a0001c0002t0012g0125 a0001c0002t0013g0001 a0001c0002t0017g0304 a0001c0002t0017g0308 a0001c0002t0019g0128 a0001c0002t0022g0169 a0001c0002t0023g0132 a0001c0002t0025g0121 a0001c0002t0028g0174 a0001c0002t0031g0139 a0001c0002t0032g0208 a0001c0002t0035g0179 a0001c0002t0042g0184 a0001c0002t0045g0302 a0001c0002t0050g0322 a0001c0002t0066g0310 a0001c0002t0075g0318 a0001c0002t0077g0309 a0001c0002t0085g0303 a0001c0002t0095g0165 a0001c0002t0097g0167 a0001c0002t0099g0296 a0001c0003t0002g0187 a0001c0003t0002g0218 a0001c0003t0002g0223 a0001c0003t0003g0186 a0001c0003t0003g0188 a0001c0003t0005g0194 a0001c0003t0005g0274 a0001c0003t0006g0003 a0001c0003t0006g0004 a0001c0003t0006g0058 a0001c0003t0006g0157 a0001c0003t0006g0183 a0001c0003t0006g0241 a0001c0003t0014g0032 a0001c0003t0014g0195 a0001c0003t0020g0321 a0001c0003t0021g0056 a0001c0003t0027g0268 a0001c0003t0046g0190 a0001c0003t0079g0015 a0001c0003t0093g0216 a0001c0004t0001g0018 a0001c0004t0002g0065 a0001c0004t0002g0196 a0001c0004t0004g0029 a0001c0004t0004g0030 a0001c0004t0004g0062 a0001c0004t0004g0237 a0001c0004t0004g0239 a0001c0004t0007g0238 a0001c0004t0018g0019 a0001c0004t0018g0024 a0001c0004t0019g0211 a0001c0004t0022g0023 a0001c0004t0032g0320 a0001c0004t0059g0156 a0001c0005t0001g0222 a0001c0006t0001g0130 a0001c0006t0001g0185 a0001c0006t0003g0135 a0001c0006t0004g0126 a0001c0006t0004g0172 a0001c0006t0071g0219 a0001c0007t0013g0317 a0001c0009t0002g0180 a0001c0009t0028g0299 a0001c0010t0033g0173 a0001c0010t0083g0323 a0001c0014t0086g0198 a0001c0021t0067g0123 a0001c0022t0081g0152 a0001c0028t0018g0021 a0002c0011t0016g0191 a0002c0011t0016g0199 a0007c0016t0056g0155 a0009c0031t0005g0204 a0011c0012t0007g0016 a0012c0019t0055g0043 a0013c0015t0001g0136	187	232	0.8060	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATAGGCACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0061 a0001c0003t0061	a0001c0003t0061g0005 a0001c0003t0061g0005	1	46	0.0217	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGCCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATATCACA CACCACACACCATACCACACACAACACACACCATAGACACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0300 a0001c0006t0004g0301 a0001c0006t0004g0300 a0001c0006t0004g0301	2	47	0.0426	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGATATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACATGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATAGACACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0041 a0014c0027t0041	a0014c0027t0041g0002 a0014c0027t0041g0002	1	46	0.0217	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCATGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGACAAACCACACGCACCAT ACACACACCACGCACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATAGACACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0163 a0001c0001t0073g0163	1	46	0.0217	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGCGTGGTGTGTGTATGGTGCGTGTGGTTTGTCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D16_chr17_79927343_80040872	80024453	C C	CACACCAT others(585): Show CACACCATAGACACACACCACACGCACCATAGGCAAACCACACGCACCAT ACACACACCACACACCATATACACACACGCCACACACCACACACCATAGG CACACACACCACACACCACACACCATAGACATACACACCACACACCATAA GCACACACACCACACACACCATAGACACACATACCACACACCACACACCA CACACCATACCACACACCACAACACACACCATAGACACACACACCATACA CCATAGACACATACCACACACACCATAGACACACACACTACACATCATAG ACACACACACCACACACCATAGACACACACCACACGCACCATAGACAAAC CACACACACCATACACACACCACACACCATATACACACACACCACACACC ACACACCATAGGCACACACACCACACACCACACACCATAGACACACACAC CACACACCATAAGCACACACACCACACACACCATAGACACACATACCACA CACCACACACCATACCACACACAACACACACCATAGACACACACACCATA CACCATAGACACACATACCACACACATCATAGACACACACACT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	46	0.0217	592	c.-62 others(611): Show c.-62-10845_-62-10844insAGTGTGTGTGTCTATGATGTGTGTGG TATGTGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTGTG TGGTATGGTGTGTGGTGTGTGGTATGTGTGTCTATGGTGTGTGTGGTGTG TGTGCTTATGGTGTGTGGTGTGTGTGTCTATGGTGTGTGGTGTGTGGTGT GTGTGCCTATGGTGTGTGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTG TGTGTATGGTGTGTGTGGTTTGTCTATGGTGCGTGTGGTGTGTGTCTATG GTGTGTGGTGTGTGTGTCTATGATGTGTAGTGTGTGTGTCTATGGTGTGT GTGGTATGTGTCTATGGTGTATGGTGTGTGTGTCTATGGTGTGTGTTGTG GTGTGTGGTATGGTGTGTGGTGTGTGGTGTGTGGTATGTGTGTCTATGGT GTGTGTGGTGTGTGTGCTTATGGTGTGTGGTGTGTATGTCTATGGTGTGT GGTGTGTGGTGTGTGTGCCTATGGTGTGTGGTGTGTGGCGTGTGTGTATA TGGTGTGTGGTGTGTGTATGGTGCGTGTGGTTTGCCTATGGTGCGTGTGG TGTGTGTCTATGGTGT	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding	1/11			chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(585): Show TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	36	0.0278	592	c.62+ others(607): Show c.62+9766_62+9767insTGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(585): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02602.hp2 HG01516.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0027 a0001c0001t0025 a0001c0001t0027	a0001c0001t0025g0016 a0001c0001t0027g0017 a0001c0001t0025g0016 a0001c0001t0027g0017	2	159	0.0126	592	c.924 others(609): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGAAA GAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGA GAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar

Search by Variant

Search

Search Results