Joint Open Genome and Omics Platform (JoGo)

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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
ASAP2_chr2_9201812_9410678	9406007	C C	CAGTCTTC others(873): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0148 a0001c0002t0003g0148	1	207	0.0048	880	c.26 others(891): Show c.2680_*2681insAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTG AGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTC AGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAG GCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTT CCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT CGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTAGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTG TGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTC AATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAG GCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTC AGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		330		chr2	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(873): Show AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0043 a0001c0003t0001g0043	1	375	0.0027	880	c.36 others(891): Show c.3635_*3636insGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(873): Show ATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0217 a0001c0031t0001g0217	1	103	0.0097	880	c.300 others(897): Show c.300-9304_300-9303insGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGG GGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(873): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCAC CCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCAC CACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACC AACCAACATCACCATCACCACCACCACCATCACCACCAACCAACATCACC ATCACCACCACCATCACCACCAACCGACATCACCACCACTACCACCATCA CCAGCATCATCACCACCATCACCACCACCACGACCATCACCACCAACCAA CATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACCACC ACCATCACCACCAACCATCACCATCACCACCACCATCACCACCAACCGAC ATCACCACCACTACCACCATCACCAGCATCATCACCACCATCACCACCAC CACCATCACCAACATCACCACCACCATTACCATCACCACCACCACCACCA CCACCACCATCACCATCACCATCATTACCACCATGACCATCACCAACACC ACTACCACCATCACTACCACCATCACCATCACCAACACCACCACCATCAC CACCATCACCATCACTGCCACCACCACCATCATCACTATCACCATCACCA CCATCACACCATTACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0073 a0001c0015t0001g0073	1	154	0.0065	880	c.276 others(895): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGTGGCAGTGATGGTGATGGT GGTGATGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAG TGGTGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGA TGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGATGG TGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATGCTG GTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGGTGA TGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTTGGT TGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGT GGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTG GGTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTG GTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGG TTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGG TGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGT GGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(873): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTC ACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCA GAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCCAT CCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCT TCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGC TCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCCTCACCCGC CACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCC TCACCTGCCACGGCCCACCTTCCCATCCTCACCTGCCACGGCCCACCTTC CTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACA GCTCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0028 a0028	a0028c0046 a0028c0046	a0028c0046t0002 a0028c0046t0002	a0028c0046t0002g0241 a0028c0046t0002g0241	1	229	0.0044	880	c.411 others(897): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAG CTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAA GGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAG GATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCA GG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(873): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0098 a0001c0001t0005g0098	1	12	0.0833	880	c.-45 others(901): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCC CCTCCTCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCC CTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(873): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0004 a0001c0033t0004	a0001c0033t0004g0095 a0001c0033t0004g0095	1	66	0.0152	880	c.-25 others(891): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(873): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCC TCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCT CCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCC TTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0215 a0002c0004t0028g0215	1	2	0.5000	880	c.162 others(901): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCC CTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCC CTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCC TCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(873): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCC CTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCT CCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCC TTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	2	0.5000	880	c.162 others(901): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCC CTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCC TCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(873): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTC CTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCC CTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCT CCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCC TTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0232 a0001c0002t0002g0232	1	2	0.5000	880	c.162 others(901): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCC CCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCT CTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCC CTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCC TCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(873): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0306 a0001c0002t0001g0306	1	42	0.0238	880	c.844 others(897): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287094	C C	CTATGTAC others(873): Show CTATGTACATCATATAGTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTAT GTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGT ACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTAT ACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACAT CATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTA CATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATA TAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATG CTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGT ATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTAT GTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	446	0.0022	880	c.51+ others(895): Show c.51+2267_51+2268insGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGC ATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTAT ATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGT AGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGA TGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTA TACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTA CATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACA TACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATACTATATGATGTACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15933472	A A	ATGAGTGA others(873): Show ATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0175 a0001c0002t0125g0175	1	381	0.0026	880	c.198 others(895): Show c.198+738_198+739insCTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DCDC2C_chr2_3698575_3853008	3725423	A A	AGGTGGAT others(873): Show AGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTG CCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC TGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	224	0.0045	880	c.340 others(897): Show c.340-1570_340-1569insGGAGGGAGACGAGCAGAGAGGGAGGAGG CTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGC CCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTG GATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCC AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGG TGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATC CC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725599	A A	AGGTGGAT others(873): Show AGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGA GGGAGATGAGCAGAGAGGGAGGAGGCTGCCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03453.hp1 NA18971.hp1 others(1): Show HG02074.hp1 HG03453.hp1 NA18971.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0006 a0002c0004t0004 a0001c0001t0004 a0001c0001t0006 a0002c0004t0004	a0001c0001t0004g0252 a0001c0001t0006g0250 a0001c0001t0006g0251 others(1): Show a0001c0001t0004g0252 a0001c0001t0006g0250 a0001c0001t0006g0251 a0002c0004t0004g0009	4	193	0.0207	880	c.340 others(897): Show c.340-1395_340-1394insCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DDX51_chr12_132131594_132149319	132149226	C C	CACCACAC others(873): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0006 a0002c0002t0004g0006	1	281	0.0036	880	c.-49 others(891): Show c.-4931_-4930insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGC GGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACT CACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACCGA GGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGAT TAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGG TGTGGTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT GTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGT GAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCG GCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCA CTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGGCACTCACC GAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGG ATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGG GGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4908		chr12	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(873): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACATATGC GCGTGTATATGTGTGTATACACATATGCGTGTGTATATGTGTGTATATAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATATATGA GTGTATATGTGTGTATATACATATATATGAGTGTATATATGTGTGTATAT ACATATATATGCGTGTATATATACGTATATATGCATGTATATATGTGTAT ACATACATATATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	78	0.0128	880	c.183 others(899): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATACACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTATATACACACATATACACACGCATATGTGTATACACACATATA CACGCGCATATGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATACA CATATATACACGCGCATATGTGTGTATACACATATATACACGCATATACA CACATATATGTATGTATACACACATATACACACATATATGTATATATACA CACATATATGTATATATACACATATATACACACATATATGTATGTATACA CATATATACACACATATATGTATGTATACACATATATACACACATATATG TATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(873): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCGTCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTC CTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATCCCTCACT TCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTAC ACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCAT CACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCACCACCCC CTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCCCCTCCAC CCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCA TCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCA CTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCT ACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC GTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCC ACCCTTCATCCCATTCCTCACTTCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	73	0.0137	880	c.36 others(891): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGA AGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTG GAGGGGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGG GTGGTGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGATG GGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGT GAGGGATGGGGTGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGAA TGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGG TGGAGGAGGTGACGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGG AGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGG TGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522716	G G	GACCCAGC others(873): Show GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCC CAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0142 a0004c0004t0004g0142	1	125	0.0080	880	c.236 others(899): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAAG ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGC CCAGCCAGGACCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1024472	G G	GAGGCAGA others(873): Show GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGT GGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTG GGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCT CCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCC ACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGC CACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCA GCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACA CCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGC AGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCC GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGT GGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTG GGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCT CCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCC ACCCTCCCTGGGGGTGGACAGTCCCGTGCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0009 a0002c0004t0003g0009	1	8	0.1250	880	c.73+ others(899): Show c.73+116507_73+116508insGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCC GCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCC CAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGA CACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAG GCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTG CCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTC CCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGA CAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGG GTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCC TGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCC GCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCC CAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGA CACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAG GCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTG CCAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCGTTCC others(873): Show TCCGTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCT TTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCCTCCTTCTTCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	215	0.0047	880	c.105 others(895): Show c.105-738_105-737insGTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTTCTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FLT3_chr13_27998274_28105576	27998958	A A	AATATATA others(873): Show AATATATATTTATATGCATATACATATATATTTATATGCATATAAATATA TATTTATATACATATAAATATATATGTATATACATATAAATATATGTATA TACATATAAATATATATGTATATACATATAAATATATATGTATATACATA TAAATATATGTATATACATATAAATATATATGTATATACATATAAATATA TATGTATATACATATATATATGTATATACATATATATATATGTATATACA TATATATGTATATACATATATATATGTATATACATATAAATATATATGTA TATACATATAAATATATATGTATATACATATAAATATATATGTATATACA TATAAATATATATGTATGTATATTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TACATTTATATACATATAAATATATACATATATACATATAAATATATATT TATATACATATAAATATATATATTTATATATATTTATATATATATAAATA TATATATATTTATATATATAAATATATATATATTTATATATATATAAATA TATATATATTTATATATATATACATATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01192.hp1 HG00642.hp1 HG01192.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0018 a0001c0012t0001g0020 a0001c0012t0001g0018 a0001c0012t0001g0020	2	96	0.0208	880	c.50 others(891): Show c.5093_*5094insATTTATATGTATATATATATAAATATATATATAT TTATATATATATAAATATATATATATTTATATATATAAATATATATATAT TTATATATATATAAATATATATAAATATATATATTTATATGTATATAAAT ATATATTTATATGTATATATGTATATATTTATATGTATATAAATGTATAT ATTTATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTAT ATGTATATAAATATATATTTATATGTATATAAATATATATTTATATGTAT ATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAATATACA TACATATATATTTATATGTATATAATATACATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC ATATATATTTATATGTATATACATATATATATGTATATACATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATTTATATGTATATACATATATATTTATATGTATATACATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATTTATATGTATATACATATATATTTATATGTATATAAATATAT ATTTATATGCATATAAATATATATGTATATGCATATAAATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4315		chr13	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(873): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCAT CACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCA CCACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCATC ACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCATGTCCACCACCACTACCACCACCATCACCA TCACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCC ACCACCACCACCACTATCACCACCATCACCATCACCACCATCACCACCAT CACCATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA AATACCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCAT CACCACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCA CCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	380	0.0026	880	c.961 others(897): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCACCACCACCACCACCATCACCATCACC ATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCAT CACCACCATCACCACCATCACCATCACCACCACCATCACCATCACCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCATGTCCACCACC ACTACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCAC CATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCA TCACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCACCACCA CTACCACCACCATCACCATCACCACCACCACCACCACCATCACCATCACC ATCATCACCATCACCTCCACCACCACCACCACTATCACCACCATCACCAT CA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HRAS_chr11_527242_540576	530718	G G	GAGAAGGG others(873): Show GAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGG GGAGTGTGGCGTCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAG TGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAG GGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGA GAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGCGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTG GCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCG AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGTGTGTGGCGTCCCCTG GAGAGAAGGGCGAGTGTGGCGTCCCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	379	0.0026	880	c.18 others(891): Show c.1809_*1810insGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACACCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCAC ACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGACGCCACACTCCCCC TTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACAC TCCCCCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTGTCCAGGGGACG CCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCC CCTTCTGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1523		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(873): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATATGGAATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0011 a0001c0001t0011g0011	1	62	0.0161	880	c.-21 others(891): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(873): Show TAATATATATATGGAATATATACGGAATATATATATAATATATATGGAAT ATATATATACGGAATATATATAATATATATACGGAATATATATATACGGA ATATATATAATATATATACGGAATATATATATAATATATATATAATATAT ATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATAT ATATAATATATAAATGGAATATATATATACGGAATATATATATAATATAT AAATGGAATATATATATACGGAATATATATATAATATATATATGGAATAT ATATATACGGAATATATATATAATATATATATGGAATATATATATACGGA ATATATATATAATATATATATGGAATATATATATACGGAATATATATATT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATACGGAATATATATATATGGATATATATACGGAATATATATAT ATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGA ATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATA TATATGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	62	0.0161	880	c.-21 others(891): Show c.-2147_-2146insAATATATATATGGAATATATACGGAATATATATA TAATATATATGGAATATATATATACGGAATATATATAATATATATACGGA ATATATATATACGGAATATATATAATATATATACGGAATATATATATAAT ATATATATAATATATATACGGAATATATATATAATATATAAATGGAATAT ATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAAT ATATATATAATATATAAATGGAATATATATATACGGAATATATATATAAT ATATATATGGAATATATATATACGGAATATATATATAATATATATATGGA ATATATATATACGGAATATATATATAATATATATATGGAATATATATATA CGGAATATATATATTATATATATGGAATATATATATACGGAATATATATA TAATATATATATGGAATATATATACGGAATATATATATATGGATATATAT ACGGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGA ATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTG TATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INS_chr11_2154779_2166209	2161961	A A	ACACCCCT others(873): Show ACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCACACCCCTGTCCCCACATCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCGGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGT CCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACA TCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	374	0.0027	880	c.-81 others(889): Show c.-812_-811insGAGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGATGTGG GGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGG GGTCCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCCGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGATGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGG GTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGG GGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCCGGG GACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		753		chr11	TogoVar
IQCB1_chr3_121764761_121840060	121786166	G G	GAAAGAAA others(873): Show GAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0166 a0002c0003t0001g0166	1	305	0.0033	880	c.127 others(899): Show c.1278+2117_1278+2118insTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406007	C C	CAGTCTTC others(873): Show CAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGT CTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0145 a0001c0001t0101g0145	1	269	0.0037	880	c.82 others(889): Show c.826_*827insAGATGTCACAGAGGTCCACTCAGTGACAAACACACA TTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACACA CACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACA AACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCA GTGACAAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACGAGATGTCACA GAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACTAGATGTCA CAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCTGAGGAA GACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGAAGGCCT GAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACATTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CATTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCA GTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAGATGTCACA GAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACTAGATGTCA CAGAGGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACT	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	826		chr2	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(873): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATCCATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	207	0.0048	880	c.126 others(897): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATGGATATATATATGGAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATATGGATATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT AT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LINGO2_chr9_27932617_29218601	28189701	G G	GAAGAAGG others(873): Show GAAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGA GGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGG GAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGA GGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGA AGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGA GGGAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGG AAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGG AAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAAGGAAGGGAGGGAAGAAGGAAGGAAGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAA GGGAGGGAAGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	31	0.0323	880	c.-36 others(901): Show c.-36+105506_-36+105507insTCCTTCCTTCCTTCCTTCCTTCTT CCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCC CTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT TCCTTCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTC CTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCT TCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTC CTTCTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(873): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0007	1	348	0.0029	880	c.-29 others(891): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGT ATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(873): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01934.hp2 HG02735.hp1 HG01243.hp1 HG01934.hp2 HG02735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0007 a0003c0003t0001g0001 a0003c0003t0001g0007	3	350	0.0086	880	c.-29 others(891): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGT ATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(873): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TACACAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02738.hp1 HG03834.hp1 HG00140.hp1 HG02738.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	3	350	0.0086	880	c.-29 others(891): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGT ATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LRP6_chr12_12111025_12272044	12253080	A A	ATGGCGAA others(873): Show ATGGCGAAACCCTGTCTCTACCAAAAATATAAAAATTAGCAGGGCGTGGT GGCGCGTGCCTGTAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATCA CTGGAACCCAGAAGGCAGAGGTTGTGGTGGGCCAAGATCGCGCCACTGAA CTCCAGCCTGGGCAACACAGCGAGACTCTGTCTCAAAAAATAATAATAAA ATAAAGTTAATCATTACGCTTATAGATATGCTTTTGTCTAACACTTTTTT GGGTTGATTTTAGTTCGCATGCCACAAAAATCAAACTTCCTTGCCAATTT CATTATCTTTTCTAACAAAGTTTCATAAGATCTTTCACTTTTTTTCTTTT TTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGG TTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAC TGGTCATTTACATTAGGTGTATCTCCTAATGCTACCCCTCCCCCCTCCCC CCACCCCACAACAGGACCTGGTGTGTGATGTTCCCCTTCCTGTGTCCAAG TGTTCTCACTGTTTAATTTCCACCTATGAGTGAGACATGCGGTGTTTGGT TTTTCGTCCTTGCAATAGGAGATCTTTCACTTTTAAGATTATCAGTAATA GGTTAATCATCACCGTTTTAAGTATTTTGTCATCTACAGATAGTTTTCTG TTTTACTCTAATGCTTCCCTGAAAGCACTTGCAAATCAGCTACAGGCCAG AGTGCACTTGTCTTCAATAAAAAAGGGCTATGGGCCAGGTGTGGTGGCTC ACGCCTCTAATCCCCACACTTTGGGAAGCTGAGGTGGGCATATCACTGGA GCCCAAGAGTTCGAGACCAGCCTGGGCAACT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18944.hp1 NA18997.hp1 HG02083.hp2 NA18944.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249	3	260	0.0115	880	c.56- others(895): Show c.56-9305_56-8426dupAGTTGCCCAGGCTGGTCTCGAACTCTTGGG CTCCAGTGATATGCCCACCTCAGCTTCCCAAAGTGTGGGGATTAGAGGCG TGAGCCACCACACCTGGCCCATAGCCCTTTTTTATTGAAGACAAGTGCAC TCTGGCCTGTAGCTGATTTGCAAGTGCTTTCAGGGAAGCATTAGAGTAAA ACAGAAAACTATCTGTAGATGACAAAATACTTAAAACGGTGATGATTAAC CTATTACTGATAATCTTAAAAGTGAAAGATCTCCTATTGCAAGGACGAAA AACCAAACACCGCATGTCTCACTCATAGGTGGAAATTAAACAGTGAGAAC ACTTGGACACAGGAAGGGGAACATCACACACCAGGTCCTGTTGTGGGGTG GGGGGAGGGGGGAGGGGTAGCATTAGGAGATACACCTAATGTAAATGACC AGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAA ACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAA AAAAAGAAAAAAAGTGAAAGATCTTATGAAACTTTGTTAGAAAAGATAAT GAAATTGGCAAGGAAGTTTGATTTTTGTGGCATGCGAACTAAAATCAACC CAAAAAAGTGTTAGACAAAAGCATATCTATAAGCGTAATGATTAACTTTA TTTTATTATTATTTTTTGAGACAGAGTCTCGCTGTGTTGCCCAGGCTGGA GTTCAGTGGCGCGATCTTGGCCCACCACAACCTCTGCCTTCTGGGTTCCA GTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGCACGCGC CACCACGCCCTGCTAATTTTTATATTTTTGGTAGAGACAGGGTTTCGCCA	LRP6	ENSG00000070018.9	transcript	ENST00000261349.9	protein_coding	1/22			chr12	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(873): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGT CCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCTCTCCCCTTCCCCTTTCCC CTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCCCTCTCCCC CTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATC CCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCC CCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCCCTCCCCC TCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCTCTTCCC TCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATCCCCATC CCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCATCCTCCTCC CCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTCTCCCTTCC CCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTCCTCCCC CACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCC TCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCT CCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCT CCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCCTTCTCCCCCACCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02683.hp2 NA20752.hp2 HG01168.hp2 HG02683.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0003 a0001c0010t0023 a0001c0001t0001 a0001c0001t0003 a0001c0010t0023	a0001c0001t0001g0186 a0001c0001t0003g0043 a0001c0010t0023g0260 a0001c0001t0001g0186 a0001c0001t0003g0043 a0001c0010t0023g0260	3	8	0.3750	880	c.100 others(899): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCTCTCC CCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCC CCCTCCCTCTCCCCCTTTCCCCTCCCCCTCTTCCCCCTCCTCCTCATCCC CCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTCTCCC CTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCCCCCT CTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCC CTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCC TCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCC TCTCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCT TCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCC CCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCTCCTCTTCCCC TCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCC CCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(873): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCACCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTTCCCCCTCTTCCCTCT CCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCT CCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCT CTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTC CTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0090 a0001c0001t0057g0090	1	6	0.1667	880	c.100 others(899): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCACCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTTCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCC CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCA CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCC TCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(873): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTCT CCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCT CCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCT CTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTC CTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0016 a0002c0007t0016	a0002c0007t0016g0059 a0002c0007t0016g0147 a0002c0007t0016g0059 a0002c0007t0016g0147	2	7	0.2857	880	c.100 others(899): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCC CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCA CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCC TCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(873): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTTCCCCCCTTCCCTCTC CCTTCCCCCTTCCCTTCTCCCCCCTCTCCCCCCCTTCCCCTCCCCCACTC TCCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCC TCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCT CCTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCC CCTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCC CCTCTCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	6	0.1667	880	c.100 others(899): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCC TCTTTCCCCCCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCCTCTCCC CCCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCC TCCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACT CTGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCC CCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCC ACTCTCCCTCCCCCTCTCCCCCTCTCCCCCTTCTCCCCCACCCCTCCCCC TCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCTCCA others(873): Show CCTCTCCATCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCC ACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTG CCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCTGTCCCCTC TCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCC CCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCC CTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCC TCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCT CTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCC TCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCT CTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATC CCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATC CTCCTCCCCATCCCCTCTCCTCTCTCCTCCTCTTCCCCCCTCTTCCCTCT CCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCT CCTCCCCCACTCCCATCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCT CTTCCCCTCCCCCTCTCCCCCTCCCCACTCTGCCTCCCCATCTCCCCCTC CTCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCACTCTCCCTCCCCCTCTCCCC CTCTCCCCCCTTCTCCCCCACCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19030.hp2 HG03516.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0011 a0003c0009t0042 a0001c0001t0011 a0003c0009t0042	a0001c0001t0011g0058 a0003c0009t0042g0275 a0001c0001t0011g0058 a0003c0009t0042g0275	2	7	0.2857	880	c.100 others(899): Show c.1005+3273_1005+3274insTCCATCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCTGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTC CCCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCA CTTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCT CCCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCC ATCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTT CCCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCT CTCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCC ATCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCC CATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCTCC TCTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCC CCCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCATCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TGCCTCCCCATCTCCCCCTCCTCCTCTCCCCCTCCCCACTCTCCCTCCCC CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCA CTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCC TCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MEGF6_chr1_3482951_3616508	3502045	C C	CCCCCACA others(873): Show CCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCC CGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATG GGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTG TGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCG CGCCTCCTCACATGGGCTCCTGGCGAGTGTG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0030 a0021c0030t0030	a0021c0030t0030g0269 a0021c0030t0030g0269	1	277	0.0036	880	c.218 others(897): Show c.2189-125_2189-124insCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGC ACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGG GCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGA GCCCATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGG GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGC CAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCG CCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGG GG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CGCTCCCC others(873): Show CGCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCC CCCTGCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCC CCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCTTCTTTCACCT CCCCTCCTCTTGCTTCACCTCCCCCTCCCCCCAATCACCTCCCCCTCCCC CCGCTCACCTCCCCCTCCCCCACTCCTCCCCCTCTCACTCCTCCCCCTCC CTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCCCTCCTCCCCCTCTCCCT CTCTCTGTCTTCCCCCTCCCCCTCCCTTTTCCCCCTCCTCCCCTCCCTGT TCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTTCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCCTTCCCC CTCCCCCTTCCCCTTCCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCCCT TCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTC CCTCACCCTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCC TCCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCA TCTCCATCCCCCTCCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0189 a0002c0002t0015g0189	1	3	0.3333	880	c.-12 others(899): Show c.-12-17673_-12-17672insGCTCCCCCTCCTCCCCTCCCTTCCCC CTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCC CTCCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCC CTGCCCCTCCTCCCCTCCCTTCCCCCTGCCCCTCCTCCCCTCCCTTCCCC CTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCC CTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCC CTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTCCCCC CTCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTGCTTCACCTCCCCCTC CCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCACTCCT CCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTC CTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCTCCCCCTCCCT TTTCCCCCTCCTCCCCTCCCTGTTCCCCCTCCCCCTCCCCCTTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCCT CCCCCTTCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTTCCCCCTTCCCCT TCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTTACTCTCCC CTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCCCTTCTCCT CCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCTCCCCTCCT CCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCTCCTCCTCC TCCT	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4			chr10	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(873): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATT TTATATATATTTTATATATATATAAAATAAGATTTTATATATATATAAAA TAAGATTTTATATATATTTTATATATATAAGATTTTATATATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	242	0.0041	880	c.-5+ others(895): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATATATATAAAATATATATAAAATCTT ATTTTATATATATATAAAATCTTATTTTATATATATATAAAATATATATA AAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAA ATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTA TATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATAT ATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAAA AAATATATATCAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189588	A A	ATATTTTA others(873): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTGATATATATT TTTTATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATTTTATATATAT ATAAAATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATA TTTTATATATATATAAAATCTTACTTTATATATATTTTATATATATAAAA TCTTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTT ATATATATTTTATATATATATAAAATAAGATTTTATATATATTTTATATA TATATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATA TATATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGA TTTTATATATATTTTATATATATAAAATAAGATTTTATATATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	242	0.0041	880	c.-5+ others(895): Show c.-5+3009_-5+3010insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATAT ATATATAAAATATATATAAAATCTTATTTTATATATATATAAAATATATA TAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTTTAT ATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATA TATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTT ATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATATAAA ATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTA TATATATATAAAATATATATAAAATATATATAAAATAAGATTTTATATAT ATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAAA AAATATATATCAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NCAPG2_chr7_158626169_158709804	158667955	T T	TCCCTTAC others(873): Show TCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGT CCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGC CTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACAACTGGGTCCCTCCGCCCGC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	170	0.0059	880	c.148 others(899): Show c.1480-3206_1480-3205insGCGGGCGGAGGGACCCAGTTGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAG GGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGAC CCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTA AGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFATC1_chr18_79390930_79534323	79532217	C C	CCCCCCGC others(873): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG TCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0213 a0002c0003t0001g0213	1	295	0.0034	880	c.46 others(891): Show c.4640_*4641insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT TGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2895		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(873): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0158 a0001c0006t0003g0158	1	242	0.0041	880	c.47 others(891): Show c.4754_*4755insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NOC4L_chr12_132139457_132157468	132148918	C C	CACCACAC others(873): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	218	0.0046	880	c.901 others(893): Show c.901+61_901+62insGCTCACACCACACCCCTAATCCCCTCGGTGAG TGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150628	A A	ACACCACA others(873): Show ACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	255	0.0039	880	c.902 others(895): Show c.902-353_902-352insCACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535562	G G	GGTGGGTC others(873): Show GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCC TCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCC CTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGAT CCCTCCCAGGGGCAATGGGTGCAGGGTGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 NA20905.hp1 HG01070.hp1 HG01071.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0056	3	316	0.0095	880	c.140 others(897): Show c.140+8461_140+8462insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCA CCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACC CACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCC ACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCC AC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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