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
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(407): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCC CACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0005 a0003c0012t0005	a0003c0012t0005g0207 a0003c0012t0005g0207	1	5	0.2000	414	c.39+ others(431): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCC CCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(407): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCG GTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCA ATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCT GCATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG01884.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0011 a0001c0001t0010 a0001c0001t0011	a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0010g0065 a0001c0001t0011g0041	2	57	0.0351	414	c.742 others(433): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTTGTAACATCA AAGTTCTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70723689	C C	CGTAGCTC others(407): Show CGTAGCTCTGCTCTTTTTTTTTTTTTTTTTTTGTAACATCAAAGTTCTTT TTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATT GTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACC CACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCC CCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTCCCCTTCCTG TGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCG GTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCA ATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCT GCATAGTATTCCATG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp1 HG03239.hp1 others(3): Show HG01934.hp1 HG02257.hp1 HG03239.hp1 HG04199.hp1 NA18612.hp1 NA18952.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0004c0006t0003	a0001c0001t0002g0052 a0001c0001t0003g0033 a0001c0001t0003g0035 others(3): Show a0001c0001t0002g0052 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0004g0042 a0001c0001t0004g0048 a0004c0006t0003g0030	6	61	0.0984	414	c.742 others(433): Show c.742+25083_742+25084insTTTTTTTTTTTTTTTTTGTAACATCA AAGTTCTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACAT GTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTG CGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCT ATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGGTATTC CCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGA GAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA TGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTT TTTATGGCTGCATAGTATTCCATGGTAGCTCTGCTCTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(407): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCCCCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	414	c.36 others(425): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BTNL8_chr5_180894159_180955906	180917048	T T	TCAACAAA others(407): Show TCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGG CACTATGAAAAATCATAGGCCAACAAACTGGATAACCTAGCAGAAACCAA AGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGG ATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAA TCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAG ACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02630.hp1 others(8): Show HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18522.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0015	a0002c0007 a0005c0009 a0005c0012 others(2): Show a0002c0007 a0005c0009 a0005c0012 a0006c0013 a0015c0023	a0002c0007t0001 a0005c0009t0001 a0005c0012t0001 others(2): Show a0002c0007t0001 a0005c0009t0001 a0005c0012t0001 a0006c0013t0001 a0015c0023t0001	a0002c0007t0001g0040 a0002c0007t0001g0042 a0002c0007t0001g0044 others(8): Show a0002c0007t0001g0040 a0002c0007t0001g0042 a0002c0007t0001g0044 a0005c0009t0001g0034 a0005c0009t0001g0035 a0005c0009t0001g0036 a0005c0012t0001g0039 a0005c0012t0001g0041 a0006c0013t0001g0037 a0006c0013t0001g0043 a0015c0023t0001g0038	11	187	0.0588	414	c.673 others(431): Show c.673+5455_673+5456insAGAAACCAAAGACAAGGTTAGACTACGG CACTATGAAAAATCATAGGCCAACAAACTGGATAACCTAGCAGAAACCAA AGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGG ATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAA TCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAG ACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGC	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917113	T T	TAGGCCAA others(407): Show TAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACT ACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAA CCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAA CTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGA AAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGG TTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTA GCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGC CAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGC ACTATGAAAAATCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03209.hp1 NA18966.hp1 HG02922.hp2 HG03209.hp1 NA18966.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0005 a0011c0026 a0002c0002 a0002c0005 a0011c0026	a0002c0002t0001 a0002c0005t0001 a0011c0026t0001 a0002c0002t0001 a0002c0005t0001 a0011c0026t0001	a0002c0002t0001g0032 a0002c0005t0001g0085 a0011c0026t0001g0076 a0002c0002t0001g0032 a0002c0005t0001g0085 a0011c0026t0001g0076	3	166	0.0181	414	c.673 others(431): Show c.673+5567_673+5568insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACA GGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917332	C C	CTGGATAA others(407): Show CTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGA AAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGG TTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTA GCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGC CAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGC ACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAA GACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGA TAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAAT CATAGGCCAACAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01167.hp1 others(34): Show HG00280.hp1 HG00544.hp2 HG01167.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02257.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp1 HG04115.hp1 NA18522.hp1 NA18942.hp2 NA19054.hp2 NA19070.hp2 NA19072.hp2	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0009	a0002c0002 a0002c0005 a0002c0007 others(4): Show a0002c0002 a0002c0005 a0002c0007 a0002c0024 a0005c0021 a0007c0008 a0009c0022	a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 others(4): Show a0002c0002t0001 a0002c0005t0001 a0002c0007t0001 a0002c0024t0001 a0005c0021t0001 a0007c0008t0001 a0009c0022t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 others(27): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0005t0001g0136 a0002c0005t0001g0137 a0002c0005t0001g0138 a0002c0007t0001g0055 a0002c0024t0001g0062 a0005c0021t0001g0029 a0007c0008t0001g0011 a0007c0008t0001g0142 a0009c0022t0001g0053	37	173	0.2139	414	c.673 others(431): Show c.673+5774_673+5775insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACA GGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAATTGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917403	G G	GGATAACC others(407): Show GGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAA AATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTT AGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGC AGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCA ACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCAC TATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGA CAAGGTTAGACTACGGCACTATGAAAAATCATAGGCCAACAAATTGGATA ACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCA TAGGCCAACAAACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0008 a0008	a0008c0019 a0008c0025 a0008c0019 a0008c0025	a0008c0019t0001 a0008c0025t0001 a0008c0019t0001 a0008c0025t0001	a0008c0019t0001g0046 a0008c0025t0001g0045 a0008c0019t0001g0046 a0008c0025t0001g0045	2	187	0.0107	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTACGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTACGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0058 a0002c0005t0001g0058	1	130	0.0077	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTACGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0002 a0006 a0002 a0006	a0002c0005 a0006c0017 a0002c0005 a0006c0017	a0002c0005t0001 a0006c0017t0001 a0002c0005t0001 a0006c0017t0001	a0002c0005t0001g0061 a0006c0017t0001g0052 a0002c0005t0001g0061 a0006c0017t0001g0052	2	131	0.0153	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCGGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0141 a0002c0005t0001g0141	1	130	0.0077	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAAACTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCGGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTNL8_chr5_180894159_180955906	180917440	C C	CGGCACTA others(407): Show CGGCACTATGAAAAATCACAGGCCAACAACCTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAA AAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACAAGGT TAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAACCTAG CAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCC AACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCA CTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACCAAAG ACAAGGTTAGACTAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0060 a0002c0005t0001g0060	1	130	0.0077	414	c.673 others(431): Show c.673+5843_673+5844insCAGGCCAACAACCTGGATAACCTAGCAG AAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCACAGGCCAAC AAACTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTA TGAAAAATCACAGGCCAACAAACTGGATAACCTAGCAGAAACCAAAGACA AGGTTAGACTACGGCACTATGAAAAATCACAGGCCAACAAACTGGATAAC CTAGCAGAAACCAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATA GGCCAACAAATTGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAC GGCACTATGAAAAATCATAGGCCAACAAACCAGATAACCTAGCAGAAACC AAAGACAAGGTTAGACTATGGCACTATGAAAAATCA	BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C2orf80_chr2_208160347_208195030	208176908	T T	TACATATC others(407): Show TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACA TATCTGTATACATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03540.hp1 HG02630.hp1 HG02723.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0239 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0239	3	338	0.0089	414	c.366 others(431): Show c.366+3836_366+3837insGTATGTATACAGATATGTATACGTATGT ATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGT ATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTAT ACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGAT ATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTAT ACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GATGGTGA others(407): Show GATGGTGATGATATTGATGGTGATGATATTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGA TGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATG ATGTGATGGTGATGATAGTGATGATGGTGATAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGGTGATGGTGATGGAGATGTTGGTGATGATGGTGATGGTGGT GATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2	a0009 a0064 a0009 a0064	a0009c0010 a0064c0060 a0009c0010 a0064c0060	a0009c0010t0001 a0064c0060t0001 a0009c0010t0001 a0064c0060t0001	a0009c0010t0001g0326 a0009c0010t0001g0327 a0064c0060t0001g0067 a0009c0010t0001g0326 a0009c0010t0001g0327 a0064c0060t0001g0067	3	328	0.0091	414	c.963 others(431): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCATCACCACCATCACCATCATCACCATC ACCATCATCACCATCACCGTCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCA TCATCACCATCACCATCATCACCATCATCACCATCACCATCATCACCATC ACCATTATCACCATCATCACTATCATCACCATCACATCATCACCATCACC ATCATCACCATCATCACCATCATCAACATCATCACCATCACCATCATAAC TATCACCATCATCACCATCATCACCATCACATCATCACCATCACCATCAT CACCATCAATATCATCACCATCAATATCATCACCAT	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC88A_chr2_55282842_55424856	55384579	G G	GTGTATAT others(407): Show GTGTATATATACATATATACGTATGTATGTGTATATATACATATATACGT ATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACATAT ATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATAT ACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGT ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	314	0.0032	414	c.273 others(431): Show c.273+4198_273+4199insTACGTATATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACATACGTATATATGTATATATACACATACATACG TATATATGTATATATACACATACATACGTATATATGTATATATACACATA CATACGTATATATGTATATATACACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(407): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCA CCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	106	0.0094	414	c.411 others(431): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGG GGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTG GCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CENPJ_chr13_24877279_24927861	24882151	G G	GATATATA others(407): Show GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTA TATAGATATATAGATACATCTATATAGATATATAATCTATATAGATACAT CTATATAGATATATAATCTATATAGATATATAGATACATCTATATAGATA TATAGATACATCTATATAGATATATAATCTATATAGATACATCTATATAG ATATATAATCTATATAGATATATAGATACATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATACATCTATATAGATA TATAGATACATCTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0065 a0002c0003t0009g0065	1	72	0.0139	414	c.10 others(425): Show c.1025_*1026insATAGATGTATCTATATATCTATATAGATGTATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAG ATGTATCTATATATCTATATAGATTATATATCTATATAGATGTATCTATA TAGATTATATATCTATATAGATGTATCTATATATCTATATAGATGTATCT ATATATCTATATAGATTATATATCTATATAGATGTATCTATATAGATTAT ATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCT ATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAG ATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATGTAT CTATATATCTATATAGATGTATCTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		127		chr13	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03688.hp2 HG00738.hp1 HG03688.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0012 a0004c0005t0002g0222 a0004c0005t0002g0012 a0004c0005t0002g0222	2	247	0.0081	414	c.217 others(431): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(407): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0225 a0004c0013t0002g0225	1	246	0.0041	414	c.217 others(431): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGGTGCCC CTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(407): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGGG GGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTTT TAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	31	0.0323	414	c.-52 others(431): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATA ACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(407): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGGG GGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTTT TAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18951.hp1 HG02735.hp2 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0130 a0002c0002t0001g0139 a0001c0001t0001g0130 a0002c0002t0001g0139	2	32	0.0625	414	c.-52 others(431): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATA ACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098454	T T	TATAAATA others(407): Show TATAAATATATAGAAATATATAAATATACATATAAATATATATAAATATA TATGTAAATATATAAATATATAAATATATATGTAAATATATAAATATATA TAAATATATATATAAATATATATATATAAATATATATAAATATATAAATA TATATAAATACATATGTAAATATATAAATATATATAAATATATAAATATA TATAGATATATATATAAATATATATAAATATATATAGATATATATATAAA TATATATAAATATATATAGATATATATATAAATATATATAAATATATATA GATATATATATAAATATATATAAATATATATAGATATATATAAATATATA TAAATATATATAGATATATAGATATATATAAATATATATAGATATATAGA TATATATAAATATAC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0261 a0001c0007t0002g0261	1	254	0.0039	414	c.181 others(433): Show c.1812+3017_1812+3018insGTATATTTATATATATCTATATATCT ATATATATTTATATATATCTATATATCTATATATATTTATATATATTTAT ATATATCTATATATATTTATATATATTTATATATATATCTATATATATTT ATATATATTTATATATATATCTATATATATTTATATATATTTATATATAT ATCTATATATATTTATATATATTTATATATATATCTATATATATTTATAT ATTTATATATATTTATATATTTACATATGTATTTATATATATTTATATAT TTATATATATTTATATATATATATTTATATATATATTTATATATATTTAT ATATTTACATATATATTTATATATTTATATATTTACATATATATTTATAT ATATTTATATGTATATTTATATATTTCTATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(407): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGATGTTGATG GCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGAT GATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0009 a0003c0014t0009	a0003c0014t0009g0276 a0003c0014t0009g0276	1	20	0.0500	414	c.371 others(433): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGG GGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(407): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG02258.hp2 others(8): Show HG00280.hp2 HG01106.hp2 HG02258.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03239.hp1 NA18906.hp2 NA18945.hp1 NA18983.hp2 NA19004.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0018	a0001c0007 a0003c0004 a0005c0006 others(1): Show a0001c0007 a0003c0004 a0005c0006 a0018c0033	a0001c0007t0001 a0003c0004t0001 a0003c0004t0002 others(3): Show a0001c0007t0001 a0003c0004t0001 a0003c0004t0002 a0003c0004t0012 a0005c0006t0001 a0018c0033t0002	a0001c0007t0001g0001 a0001c0007t0001g0066 a0003c0004t0001g0061 others(7): Show a0001c0007t0001g0001 a0001c0007t0001g0066 a0003c0004t0001g0061 a0003c0004t0001g0068 a0003c0004t0001g0095 a0003c0004t0002g0092 a0003c0004t0002g0100 a0003c0004t0012g0065 a0005c0006t0001g0063 a0018c0033t0002g0082	11	33	0.3333	414	c.177 others(431): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGAGGGCAT GTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGAT CATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGAC ATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCA TGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGG ACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(407): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCA TAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00642.hp2 others(25): Show HG00280.hp1 HG00544.hp2 HG00642.hp2 HG00741.hp2 HG01106.hp1 HG01192.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02622.hp1 HG02895.hp1 HG03492.hp1 NA18612.hp2 NA18945.hp2 NA19004.hp2 NA19005.hp2 NA19067.hp1 NA19070.hp1	a0001 a0006 a0008 others(2): Show a0001 a0006 a0008 a0012 a0016	a0001c0001 a0001c0003 a0001c0021 others(5): Show a0001c0001 a0001c0003 a0001c0021 a0001c0035 a0006c0011 a0008c0016 a0012c0015 a0016c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0003t0001 a0001c0003t0015 a0001c0021t0002 a0001c0035t0002 a0006c0011t0002 a0008c0016t0014 a0012c0015t0002 a0016c0032t0002	a0001c0001t0001g0067 a0001c0001t0002g0003 a0001c0001t0002g0004 others(25): Show a0001c0001t0001g0067 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0016g0101 a0001c0003t0001g0115 a0001c0003t0015g0106 a0001c0021t0002g0093 a0001c0035t0002g0010 a0006c0011t0002g0097 a0006c0011t0002g0111 a0008c0016t0014g0090 a0012c0015t0002g0089 a0016c0032t0002g0008	28	50	0.5600	414	c.177 others(431): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATGGGG GGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGT GAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCA TGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATG GGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGGGAC GTGAGGATTGGGGGGACCCGTGAGGATCATGGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGGGAC others(407): Show TGGGGGACATGTGAGGATCATGGGAAGACCCGTGAGGATCATGGGGGGGA CGTGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGA GGATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCA TAGAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGG ACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAA GACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAGG ATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGGGA CCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	23	0.0435	414	c.177 others(431): Show c.1776+248_1776+249insACATGTGAGGATCATGGGAAGACCCGTG AGGATCATGGGGGGGACGTGTGAGGATCATAGGGGAGACCCGTGAGGGTC ATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTGTGAGGATCATGGGG GGATGTGTGAGGATCATAGAGGGGACATGTGAGGATCATGGAGGGCATGT GAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGGATCA TGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATG GGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGAC GTGAGGATTGGGGGGACCCGTGAGGATCATGGGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0006 a0001c0028t0006	a0001c0028t0006g0244 a0001c0028t0006g0244	1	111	0.0090	414	c.50 others(425): Show c.5018_*5019insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGG TCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTGAGGGTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4709		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0244 a0001c0047t0001g0244	1	111	0.0090	414	c.19 others(425): Show c.1957_*1958insAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGG TGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTT AGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAG GGTCAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGG TGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTC AGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAG GGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGG TCAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTT AGGGTGAGGGTGAGGGTCAGGTTTAGGGTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1662		chr21	TogoVar
CPNE7_chr16_89570758_89602246	89587887	G G	GCGTGTCA others(407): Show GCGTGTCACCCACAGATACATGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	304	0.0033	414	c.928 others(429): Show c.928-769_928-768insTGGCCCCCCGTGTTACCCGCGTGTCACCCA CAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGC CCCCCGTGTTACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCCCGTGTCACC CACAGATACACGGCCCCCGTGTCACCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCCCGTGTCACCCACAGATACA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924586	C C	CCCCACAC others(407): Show CCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCA GCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCCACA CTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCC CCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0215 a0010c0010t0001g0215	1	330	0.0030	414	c.489 others(431): Show c.489-1135_489-1134insACACTGACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCAC ACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTC ACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251048	A A	ACCCCCAC others(407): Show ACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCCAACACCC CCAACACCCCCACACACCCCCCACACACACATCCCCCCACCCCCACACCC CCACACCCCCCACATCTCCCCACACACCCCCCACACCACACATCCCTCAC ACCCCCAAACCCCCACACCCCTCCCCACATCCCCACACCCCCACACCACA CATCCCCCACACCCCCACACCCCCACACCCCCCACATCTCCCCACACACC CCACACCACACATCCCTCACACCCCCAACACCCCCACACCCCCACACACC CCCCCACACCCACATCCCCCACACCCCAAATCCCCCACACACCCCCCACA TCTCCCCCACACCCCCCCACATCCCCCACACCCCCATCCCCCACACCTCC CCACACCCCCACACC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	27	0.0370	414	c.207 others(433): Show c.2073+1366_2073+1367insCCCACACACCCCCCACACCACACATC CCTCACACCCCCCCAACACCCCCAACACCCCCACACACCCCCCACACACA CATCCCCCCACCCCCACACCCCCACACCCCCCACATCTCCCCACACACCC CCCACACCACACATCCCTCACACCCCCAAACCCCCACACCCCTCCCCACA TCCCCACACCCCCACACCACACATCCCCCACACCCCCACACCCCCACACC CCCCACATCTCCCCACACACCCCACACCACACATCCCTCACACCCCCAAC ACCCCCACACCCCCACACACCCCCCCACACCCACATCCCCCACACCCCAA ATCCCCCACACACCCCCCACATCTCCCCCACACCCCCCCACATCCCCCAC ACCCCCATCCCCCACACCTCCCCACACCCCCACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(407): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC GCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCC GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	26	0.0385	414	c.27 others(425): Show c.2765_*2766insAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAG GCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGG AGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGGGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGG CGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGC GGCGCGGGGAGGCGGCGCGGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKD_chr2_233349494_233477098	233397537	G G	GGGGGGGG others(407): Show GGGGGGGGGCAGAGTGAGAGGACACCAGAGGGGACCAGAGTGGCTGGCAG AGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGT GAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGCCAGAGCGAG AGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCAGCAGAGTGAGAGG ACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCC AGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGG GGAGCAGGGTGGCTGGCGGGGGGCCAGAGCGAGGCGAGAGGACACCAGAG GGGACCAGGGTGGCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0215 a0001c0001t0008g0215	1	332	0.0030	414	c.348 others(431): Show c.348+7062_348+7063insCAGAGTGAGAGGACACCAGAGGGGACCA GAGTGGCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTG GCTGGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGG CAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGG GGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGAGGGGGGCA GCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGA GTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAG AGGACACCAGAGGGGAGCAGGGTGGCTGGCGGGGGGCCAGAGCGAGGCGA GAGGACACCAGAGGGGACCAGGGTGGCTGGGGGGGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	516830	G G	GGGGGGGG others(407): Show GGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGG GGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAG GGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTA GGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGG GGGGGGACACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGG ACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGG GGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGG GTGGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGGGGGTAGGGTGGGGG GGGACGGGGTAGGGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0056 a0001c0007t0007g0056	1	79	0.0127	414	c.86- others(431): Show c.86-30301_86-30300insACCCTACCCCGTCCCCCCCCACCCTACC CCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTC CCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC CACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCT ACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCG TGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCC CCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCA CCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1039624	G G	GCATGGTC others(407): Show GCATGGTCAGCTCGGTGTGCATGGTCAGCTCGGTTTCCGTGGTCAGCTTG GTTTCTGTGGTCAGCTCGGTTTCTGTAGTCGGCTCGGTGTGTGTGGTTGG CTCGGTATGCATGTTCAGCTCGGTTTCCGTGGTCGGCTCGGTGTGCATGG TCGGCTCGGTGTGCATGTTCAGCTCGGTGTGCGTGGTCGGCTCATTGTGC ATGGTCGGCTCGGTATGCATGGTCAGCTCGGTGTGCGTGGTCAGCTCGGT GTGCATGGTCGGCTCAGTTTCCGTGGTCAGCTTGGTGTGCGTGGTCGGCT CGGTGTGCATGGTCTGCTCAGTTTCCGTGGTCAGCTCGGTTTCCGTGGTC AGCTCGGTGTGCATGGTTGGCTCGGTGTGCGTGGTCAGCTCGGTTTCCGT GGTCAGCTCGGTTTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02071.hp1 HG01071.hp2 HG02071.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0011 a0002c0004t0026 a0002c0001t0011 a0002c0004t0026	a0002c0001t0011g0002 a0002c0004t0026g0016 a0002c0001t0011g0002 a0002c0004t0026g0016	2	40	0.0500	414	c.73+ others(433): Show c.73+131659_73+131660insATGGTCAGCTCGGTGTGCATGGTCAG CTCGGTTTCCGTGGTCAGCTTGGTTTCTGTGGTCAGCTCGGTTTCTGTAG TCGGCTCGGTGTGTGTGGTTGGCTCGGTATGCATGTTCAGCTCGGTTTCC GTGGTCGGCTCGGTGTGCATGGTCGGCTCGGTGTGCATGTTCAGCTCGGT GTGCGTGGTCGGCTCATTGTGCATGGTCGGCTCGGTATGCATGGTCAGCT CGGTGTGCGTGGTCAGCTCGGTGTGCATGGTCGGCTCAGTTTCCGTGGTC AGCTTGGTGTGCGTGGTCGGCTCGGTGTGCATGGTCTGCTCAGTTTCCGT GGTCAGCTCGGTTTCCGTGGTCAGCTCGGTGTGCATGGTTGGCTCGGTGT GCGTGGTCAGCTCGGTTTCCGTGGTCAGCTCGGTTTCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369785	A A	ATTATTAT others(407): Show ATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAGGC CTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAA CAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTA TTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACA TTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCT TCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCC TTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAAC AGGCCTTTCATAACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	356	0.0028	414	c.346 others(431): Show c.346+2381_346+2382insAACATTATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCC TTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGG GCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTA TTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAA CGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCTTT CATAACGTTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGG CCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(407): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCAGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCT CCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACC GTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02615.hp1 others(8): Show HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02809.hp2 HG02976.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0152 others(7): Show a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0152 a0001c0001t0002g0164 a0001c0001t0002g0177 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0244 a0001c0001t0002g0274 a0001c0001t0050g0030	11	224	0.0491	414	c.-11 others(433): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCAGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTC CATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCG TCTCTCCCTGCCCAGTCTCCATCTCCCTGTCTGCACTG	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DNAJC5_chr20_63890126_63941011	63913074	C C	CGTCTCCA others(407): Show CGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCT GCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTC CTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTC CCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTC CCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTC CCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACT GCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCT CCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACC GTCTCTCCCTGCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(118): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0040 a0001c0001t0045 a0001c0001t0049 a0001c0001t0056 a0001c0002t0002 a0001c0002t0044 a0001c0006t0002	a0001c0001t0001g0195 a0001c0001t0001g0243 a0001c0001t0001g0246 others(99): Show a0001c0001t0001g0195 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0242 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0002g0294 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0008g0221 a0001c0001t0008g0232 a0001c0001t0008g0233 a0001c0001t0008g0234 a0001c0001t0009g0189 a0001c0001t0009g0196 a0001c0001t0009g0207 a0001c0001t0009g0218 a0001c0001t0010g0033 a0001c0001t0010g0230 a0001c0001t0017g0186 a0001c0001t0017g0222 a0001c0001t0018g0037 a0001c0001t0027g0225 a0001c0001t0029g0191 a0001c0001t0031g0200 a0001c0001t0040g0204 a0001c0001t0045g0002 a0001c0001t0049g0006 a0001c0001t0056g0168 a0001c0002t0002g0015 a0001c0002t0002g0029 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0227 a0001c0002t0044g0015 a0001c0006t0002g0258	121	334	0.3623	414	c.-11 others(433): Show c.-11-15237_-11-15236insCCTCTCCTGCTCCATCTCCCCATCTG CACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCC TGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCC CTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCC CTGCCCCGTCTCCATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCC CCATCTGCACCGTCTCTCCCTGCCCCGTCTCCATCTCCCTGTCTGCACTG CCTCTCCTGCTCCATCTCCCCATCTGCACCGTCTCTCCCTGCCCCGTCTC CATCTCCCTGTCTGCACTGCCTCTCCTGCTCCATCTCCCCATCTGCACCG TCTCTCCCTGCCCAGTCTCCATCTCCCTGTCTGCACTG	DNAJC5	ENSG00000101152.12	transcript	ENST00000360864.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(407): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT TTCTATATATGATATATATATCATATATATGATATATATATCATATATTT CTATATATGATATATATATCATATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATATGATATATATATCATATATTTCTAT ATATGATATATATAA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	15	0.0667	414	c.316 others(433): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATTTCTATATATGATATATATAT CATATATATGATATATATATCATATATTTCTATATATGATATATATATCA TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATATGATATATATATCATATATTTCTATATATGATATATATAATATATA TGATATATATATCATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(407): Show CCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCA TCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCATCAC CACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19074.hp1 NA19070.hp1 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0001 a0002c0005 a0003c0001	a0002c0005t0001 a0003c0001t0001 a0002c0005t0001 a0003c0001t0001	a0002c0005t0001g0096 a0003c0001t0001g0154 a0002c0005t0001g0096 a0003c0001t0001g0154	2	162	0.0123	414	c.323 others(433): Show c.3234+1480_3234+1481insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCAT CACCACCACCTCCACCATCACCACCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(407): Show CACCACCACCTCCACCACCACCACCACCACCACCACCACCACCTCCACCA TCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCACCACCTCC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCACCTCCACCACCAGCACT TCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCT TCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTT CCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0251 a0002c0007t0001g0251	1	155	0.0065	414	c.323 others(433): Show c.3234+1717_3234+1718insCCACCACCTCCACCACCACCACCACC ACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CTCCACCTCCACCACCACCTCCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACC ACCTTCTCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCAC CTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EXOC3_chr5_438176_472290	468204	A A	ATCTGACA others(407): Show ATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCGTATCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCC CTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCA GCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCT GGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAG GGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCG CCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCT CCTGATCCCCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19240.hp1 HG02976.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0001 a0004c0009t0001 a0001c0002t0001 a0004c0009t0001	a0001c0002t0001g0092 a0004c0009t0001g0090 a0001c0002t0001g0092 a0004c0009t0001g0090	2	406	0.0049	414	c.13 others(425): Show c.1306_*1307insTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATC CCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCT CCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTG TCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTG ACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACAT CCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCC TCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAG CCTGGAGGGCGCCCTCCTGATCCCCTCCTG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		915		chr5	TogoVar
FBXO21_chr12_117136991_117195470	117152015	C C	CCCTTTGA others(407): Show CCCTTTGACTTTTCATATGACTTTGACTTTTTGAAGAATCCAGACTGGTT GTCTTGTAAATTTTTTTTTTTTTTTGAGACAGGGTGCTCTGTCACCCAGG CTGGAGTGCAGTGGTACAAACATGAGTCACTGCAGCCTCAACCTCCTGGG CTCAATTGATCCTCCTATCTCAGCCTCCCAAGTAGCTGGGACTGCAGGCA TGCACCACCACACCTGGCTATTTTTTGTGTTTTTGTAGAAATGGGGTTTC ACCATGTAGCCCAGGCTGGTCTCGAAGTCCTGGACTCAAGCATTCTGCCC GCTTCAGCCTCTCAAAGTGTTGAGATCACAGGTGTGAGCCACCGTGCCTG GCCATTGTCTTGTAAATTGTATAACATTTTGGATTTGCCTCATTGGTTCC TTAACTGTATGATGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01123.hp1 others(14): Show HG00423.hp2 HG00597.hp2 HG01123.hp1 HG02300.hp1 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18951.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0227 a0001c0001t0001g0232 others(12): Show a0001c0001t0001g0012 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0007t0001g0355	17	400	0.0425	414	c.167 others(433): Show c.1675+3775_1675+3776insACATCATACAGTTAAGGAACCAATGA GGCAAATCCAAAATGTTATACAATTTACAAGACAATGGCCAGGCACGGTG GCTCACACCTGTGATCTCAACACTTTGAGAGGCTGAAGCGGGCAGAATGC TTGAGTCCAGGACTTCGAGACCAGCCTGGGCTACATGGTGAAACCCCATT TCTACAAAAACACAAAAAATAGCCAGGTGTGGTGGTGCATGCCTGCAGTC CCAGCTACTTGGGAGGCTGAGATAGGAGGATCAATTGAGCCCAGGAGGTT GAGGCTGCAGTGACTCATGTTTGTACCACTGCACTCCAGCCTGGGTGACA GAGCACCCTGTCTCAAAAAAAAAAAAAAATTTACAAGACAACCAGTCTGG ATTCTTCAAAAAGTCAAAGTCATATGAAAAGTCAAAGG	FBXO21	ENSG00000135108.16	transcript	ENST00000622495.5	protein_coding	11/11			chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946651	T T	TACATATA others(407): Show TACATATAAATATATATACATAAATATATAAATATATATAAATATATAAA TATATAAATATATATAAGTACATATAAATATATATACATAAATATATAAA TATATATAAATATATAAATATATAAATACATAATATATATAAATATAAAA TATATATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAT ATATATAAATATATAAAAATATATAAAAAATATATACACATATAAATATA TATAAATATATAAATATATATAAAAATATATAAATATATATAAAAATATA TAAATATATATTATATATAAATATATAATATATAAATATATATAATATAT AAATATATACAATATATAAATATATATAAATATATACAATATATAAATAT ATATAAATATATACA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0008 a0008c0008t0008	a0008c0008t0008g0013 a0008c0008t0008g0013	1	342	0.0029	414	c.617 others(431): Show c.617-1516_617-1515insTGTATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTGTATATATTTATATATTATATAT ATTTATATATTATATATTTATATATAATATATATTTATATATTTTTATAT ATATTTATATATTTTTATATATATTTATATATTTATATATATTTATATGT GTATATATTTTTTATATATTTTTATATATTTATATATATTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATATTTATATATTTAT GTATATATATTTATATGTACTTATATATATTTATATATTTATATATTTAT ATATATTTATATATTTATGTATATATATTTATATGT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FGFR4_chr5_177081915_177103144	177096935	C C	CTCCTCCT others(407): Show CTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCC TCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTC TTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCT CCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTC CTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	368	0.0027	414	c.215 others(431): Show c.2153+213_2153+214insCCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTT CCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCC TCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG CTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCC TCCTCTTCCTCCTCCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTC CTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTCCTCCTCCT CCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(407): Show CCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCC CCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCACCCAT CCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTC CTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACCCACCTCTCCTCCCGC CTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCT CCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGC CTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTATCC CTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCC ACCCCCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01517.hp1 HG01496.hp2 HG01517.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	2	115	0.0174	414	c.33 others(425): Show c.3310_*3311insCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCC AGCCTACCCCTCCCCCCACCCATCCCTCCTCCCGCCCCCCTCCAGCCTAC CCCTCCCCCACCCATCCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCCTCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCACC CACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCC CCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCC CGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCC CCCTCCAGCCTATCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTA CCCCTCCCCCCGCCCACCCCCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FTCD_chr21_46131779_46160579	46134509	G G	GAGGGTCA others(407): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTA GGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGG TTTAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGTT TAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGG GTCAGGTTTAGGGTCAGGGTCAGGGTCAGGTTTAGGGTCAGGGTCAGGGT CAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCAGGGTCAGGGTCAGGGTGA GGGTGAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGG GTCAGGTTTAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	76	0.0132	414	c.24 others(425): Show c.2477_*2478insGACCCTAAACCTGACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTGACCCTGACCCT GACCCTCACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGACCCTAA ACCTGACCCTGACCCTGACCCTAAACCTGACCCTGACCCTGACCCTGACC CTAAACCTGACCCTCACCCTCACCCTCACCCTCACCCTCACCCTCACCCT GACCCTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCTGACCCTGA CCCTCACCCTAAACCTGACCCTCACCCTAAACCTGACCCTCACCCTAAAC CTGACCCTCACCCTAAACCTGACCCTCACCCTAAACCTGACCCTCACCCT CACCCTCACCCTGACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2269		chr21	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(407): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATATA CACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGT ATATGTATATATAGTGTATATATACACTATACACTGTATATGTATATATA GTGTATATATACACTATATATACACTATATAGTGTATATATAGTATATAT ATACTGTATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02809.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG02809.hp2 HG02965.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0059 a0001c0001t0001g0099 a0001c0001t0001g0171	5	59	0.0847	414	c.114 others(433): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATACACTATATATACACTATATATGTATATATATACATA TATAGTGTATATATAGTGTATATATACTATATATATAGTGTATATATACT ATATATATAGTGTATATACACTATATATATAGTGTATATATACTATATAT AGTGTATATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241806652	C C	CTCCCCCC others(407): Show CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCC TCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCC AGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	297	0.0034	414	c.24 others(425): Show c.2486_*2487insTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GATGTCTGCAGGCCACCCTCCCTCCCTCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2366		chr2	TogoVar
GALNTL5_chr7_151951446_152024929	151969577	T T	TTCAGGAT others(407): Show TTCAGGATTTGGTCAAAAAGTTTTGTTACAAGTGAAGCTGTCCTACAAGG TCAATGATGTAATGGCATGTATTAGCTGAATCTAAAGTTGATGTGAGTTC TAAAATTACACTGAAACCTTGGAGGGTAAAATTTTTATCTTCAGTATGTG TAAATACTGTAAAATAGCTAAATGGAGCTATTTGATTTTGATATTAGTGA ACATCTACCTGGTGGTTTAAAGTCTTTCTGGTACTACTGGGTGCTGAGAT GGGAAGATCAGGACTTTGTGTGGATGTGAGTTAGTATACTTGAGTATCTT GGAATGCCAAGTTAAAATTTATATGTAGAAAATTATACTTTAAAGATTTG AGTTTTCTTGATACTATCTAATTTTATTCAATAACAGGAGAGTCTGCATA TTTGAGAAAATATGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	382	0.0026	414	c.248 others(431): Show c.248-1368_248-1367insTCAGGATTTGGTCAAAAAGTTTTGTTAC AAGTGAAGCTGTCCTACAAGGTCAATGATGTAATGGCATGTATTAGCTGA ATCTAAAGTTGATGTGAGTTCTAAAATTACACTGAAACCTTGGAGGGTAA AATTTTTATCTTCAGTATGTGTAAATACTGTAAAATAGCTAAATGGAGCT ATTTGATTTTGATATTAGTGAACATCTACCTGGTGGTTTAAAGTCTTTCT GGTACTACTGGGTGCTGAGATGGGAAGATCAGGACTTTGTGTGGATGTGA GTTAGTATACTTGAGTATCTTGGAATGCCAAGTTAAAATTTATATGTAGA AAATTATACTTTAAAGATTTGAGTTTTCTTGATACTATCTAATTTTATTC AATAACAGGAGAGTCTGCATATTTGAGAAAATATGC	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	2/8			chr7	TogoVar

Search by Variant

Search

Search Results