Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(390): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	322	0.0031	397	c.193 others(414): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACAGTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182166	T T	TCACACAC others(390): Show TCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACAGT CACATACAGACACAACCACACCACACTCACACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACATACAGACACAACCACACCACAC ACACACACACACACACACTCACATACAGACACAACCACACCACACTCA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	37	0.0270	397	c.193 others(414): Show c.1939-765_1939-764insCATACACACTCACATACAGACACAACCA CACCACACTCACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACAGTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACACATACAGACACAA CCACACCACACACACACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544701	A A	ACGTCGCC others(390): Show ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCG CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC GTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0382 a0001c0001t0001g0382	1	374	0.0027	397	c.-22 others(414): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG TCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975140	C C	CAGCCATG others(390): Show CAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCC ATGTCAGAGGTCCACCCTGATCCTCTGCTCCTGACCTGCAGCCATGTCAG AGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATATCAAAGGGCCA CCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTG ACCCTCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCT CTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCT CCACATCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTCTGCTCCTGA CCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCCACATCTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	263	0.0038	397	c.151 others(414): Show c.151+1516_151+1517insAAAGATGTGGAGCAGAGGATCAGGGTGG ACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTC TGACATGGCTAAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATG GCTGCAGGTCAGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTAA AGATGTGGAGCAGAGAGGGTCAGGGTGGACCTCTGACATGGCTGCAGGTC AGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTCAGGAG CAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGA TCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGAGGGTCAGG GTGGACCTCTGACATGGCT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC191_chr3_113959137_114061526	114039709	T T	TAGTTTTT others(390): Show TAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATGTCTGTTATTTTT TATTTGAAGACAGACATTATACATTTTGTGTTGTCAGGGGCTATATTTTG TATTCTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTG GGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAG GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGC AGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGAT TAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTT TAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0354 a0001c0009t0001g0354	1	373	0.0027	397	c.416 others(414): Show c.416-2924_416-2923insCCACTCAGGGTTAAATGGATTAAGGGCG GTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTA AGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGC GGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACT TGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAAT CCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAA AAAAAAAAAAAAAAAGAATACAAAATATAGCCCCTGACAACACAAAATGT ATAATGTCTGTCTTCAAATAAAAAATAACAGACATCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACT	CCDC191	ENSG00000163617.11	transcript	ENST00000295878.8	protein_coding	4/16			chr3	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(390): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18974.hp2 NA18964.hp1 NA18974.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0042 a0003c0004t0001g0118 a0003c0004t0001g0042 a0003c0004t0001g0118	2	93	0.0215	397	c.154 others(416): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(390): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTTTATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATAATA TATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAAT ATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0043 a0003c0004t0001g0043	1	92	0.0109	397	c.154 others(416): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTTTATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATATTATATA ATATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(390): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0235	1	12	0.0833	397	c.-45 others(418): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTC CCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650501	T T	TGACTGTG others(390): Show TGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAG GTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTG TGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGTGC CTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGT GTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	84	0.0119	397	c.177 others(416): Show c.1779-2464_1779-2463insTGTGACTGTGAGGTGTGGACTGTGAG GTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTG TGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGTGTGC CTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGT GTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(390): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG00642.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	2	9	0.2222	397	c.69 others(408): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(390): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGC AGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGGAGGGG GAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGA GGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAG GGGAGGGGAAGGGGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGA AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	183	0.0055	397	c.637 others(412): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCCTCCCGTCCCCTCCCCTCCAG TCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCT TCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTT CCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(390): Show TGGTGATAGTGGGGATGGGAGTGGAGTGGAGGTGAGGGTGATGATGGTGC TGGTGGCAATGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGTG GTGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGA TGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTG ATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0040 a0002c0018t0040	a0002c0018t0040g0207 a0002c0018t0040g0207	1	20	0.0500	397	c.371 others(416): Show c.3717+2639_3717+2640insATAGTGGGGATGGGAGTGGAGTGGAG GTGAGGGTGATGATGGTGCTGGTGGCAATGGTGATAGTGGGGGTGGGAGT GGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGA TGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTG ATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110355712	T T	TGGGGGAG others(390): Show TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTAC AGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTG GGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCAGTAG CTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0184 a0001c0005t0001g0184	1	195	0.0051	397	c.100 others(414): Show c.100-1756_100-1755insGAGGGCTGCACTAGCTCACCTGTGTGTG GGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGAGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTA GCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTG GGGGAGGGCTGCAGTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGG GGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAGTAGC TCACCTGTGTGTGTGGGGG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COQ8A_chr1_226935294_226992544	226960361	T T	TGGTGGTA others(390): Show TGGTGGTACTTGGTGTCAGTGGTACTTGGTGGTGGTGGTGGTGCTTGGTG GTGGTGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGATGGTACTTGGT GGTGGTGGTGGTACTTGGTGGTGGCAGTGGTACTTGGTGGTGGTACTTGG TGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGGCGGTGGTACTTG GTGGTGCTGGTGGTGCTTGGTGGTGGTGGTGGTACTTGGTGGTGGTGATG GTACTTGGTGGTGGTGGTGGTGGTACTTGGTGGTGGTACTTGGTGGTACT TGGTGGTGGTGGCGGTACTTGGTGGTGGTGGCGGTGGTACTTGGTGGTGG TGGTGCTTGGTGGTGGTGATGGTACTTGGTGGTGGTGATGGTACTTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp2 HG02280.hp1 others(14): Show HG01106.hp1 HG02109.hp2 HG02280.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0013 a0002c0004 a0002c0007 a0002c0013	a0002c0004t0003 a0002c0007t0003 a0002c0013t0003 a0002c0004t0003 a0002c0007t0003 a0002c0013t0003	a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 others(11): Show a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0095 a0002c0004t0003g0096 a0002c0004t0003g0186 a0002c0004t0003g0187 a0002c0004t0003g0188 a0002c0007t0003g0044 a0002c0007t0003g0311 a0002c0007t0003g0312 a0002c0007t0003g0313 a0002c0013t0003g0097	17	409	0.0416	397	c.-9- others(412): Show c.-9-1016_-9-1015insGGTGGTACTTGGTGTCAGTGGTACTTGGTG GTGGTGGTGGTGCTTGGTGGTGGTGGTACTTGGTGGTGGTGGTGGTACTT GGTGGTGATGGTACTTGGTGGTGGTGGTGGTACTTGGTGGTGGCAGTGGT ACTTGGTGGTGGTACTTGGTGGTACTTGGTGGTGGTGGTGGTACTTGGTG GTGGTGGCGGTGGTACTTGGTGGTGCTGGTGGTGCTTGGTGGTGGTGGTG GTACTTGGTGGTGGTGATGGTACTTGGTGGTGGTGGTGGTGGTACTTGGT GGTGGTACTTGGTGGTACTTGGTGGTGGTGGCGGTACTTGGTGGTGGTGG CGGTGGTACTTGGTGGTGGTGGTGCTTGGTGGTGGTGATGGTACTTGGTG GTGGTGATGGTACTTGG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14			chr1	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(390): Show GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTTACCCGCGTGTCACCCACAGAA ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	232	0.0043	397	c.928 others(412): Show c.928-433_928-432insACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTTACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(390): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCG TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	3	0.3333	397	c.13 others(408): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(390): Show CCCCCGCCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCA CCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCG TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01109.hp1 HG00099.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0103 a0001c0001t0001g0104	2	4	0.5000	397	c.13 others(408): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCATCCATCCCCCCAC CCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCAT CCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCC ATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(390): Show CCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATC TGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCC CCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCA TCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCG TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0001g0207 a0001c0001t0001g0244	2	4	0.5000	397	c.13 others(408): Show c.1317_*1318insCCCCGCCCACCCATCTGTCCACCCATCCGTCCAT CCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCC GTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCAT CCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCAC CCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCC CCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924481	C C	CCCCACAC others(390): Show CCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCC GGCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAAC CCGGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACA CTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0209 a0007c0007t0001g0209	1	329	0.0030	397	c.489 others(414): Show c.489-1240_489-1239insACACTGACCCGGCCCCCCACACTAACCC GGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTGACC CGGCCCCCACACTAATCCGGCCCCCACACTGACCCGGCCCCCCACACTGA CCCGGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCCCACACT AACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTC ACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCC CCCACACTAACCCAGTCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647357	C C	CCTCCACA others(390): Show CCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCC TCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCT CCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCC TCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACC CCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGT TCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTC CTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCA CATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG03710.hp1 HG00140.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0044 a0001c0001t0001g0057	2	267	0.0075	397	c.52 others(408): Show c.5217_*5218insCTCCACACCCCTCCTCCTCCACACCCCTCTTCCT CCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTT TTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCA CACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACA CCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACT CATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCC TCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCAC ACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCC CCTCCTCACCCCG	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2013		chr15	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(390): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0145 a0002c0002t0009g0145	1	197	0.0051	397	c.923 others(416): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCA CCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCT CCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTC CTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(390): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGG GAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	164	0.0061	397	c.-42 others(408): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DMD_chrX_31114222_33216549	32554924	A A	AGAAAGAA others(390): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0016 a0016	a0016c0055 a0016c0055	a0016c0055t0001 a0016c0055t0001	a0016c0055t0001g0041 a0016c0055t0001g0041	1	96	0.0104	397	c.199 others(416): Show c.1993-9591_1993-9590insCTTTCTTTCTTTCCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	16/78			chrX	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGCAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTCTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0210 a0001c0001t0009g0210	1	151	0.0066	397	c.538 others(414): Show c.538+7748_538+7749insGGCAGCTGGGACTACAGGCACCCGCCAC CACGCCGGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTCTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAAT TTTTTGTGCTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03225.hp1 HG00639.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0252 a0001c0006t0002g0253 a0001c0001t0002g0252 a0001c0006t0002g0253	2	152	0.0132	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTGCTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00609.hp2 others(58): Show HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03669.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18942.hp1 NA18950.hp2 NA18960.hp1 NA18969.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18995.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0010 others(1): Show a0001c0001 a0002c0002 a0002c0010 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0018 a0002c0002t0019 a0002c0010t0003 a0005c0009t0005	a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0287 others(58): Show a0001c0001t0001g0266 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0285 a0001c0001t0004g0208 a0001c0001t0007g0255 a0001c0001t0007g0265 a0002c0002t0003g0006 a0002c0002t0003g0008 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0022 a0002c0002t0003g0025 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0032 a0002c0002t0003g0034 a0002c0002t0003g0038 a0002c0002t0003g0041 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0048 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0058 a0002c0002t0003g0060 a0002c0002t0003g0076 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0254 a0002c0002t0005g0009 a0002c0002t0005g0023 a0002c0002t0005g0024 a0002c0002t0005g0027 a0002c0002t0005g0029 a0002c0002t0005g0031 a0002c0002t0005g0033 a0002c0002t0005g0039 a0002c0002t0005g0047 a0002c0002t0005g0050 a0002c0002t0005g0051 a0002c0002t0006g0026 a0002c0002t0006g0035 a0002c0002t0006g0036 a0002c0002t0006g0037 a0002c0002t0006g0042 a0002c0002t0006g0053 a0002c0002t0006g0054 a0002c0002t0006g0077 a0002c0002t0011g0052 a0002c0002t0011g0057 a0002c0002t0018g0040 a0002c0002t0019g0078 a0002c0010t0003g0049 a0005c0009t0005g0046	61	211	0.2891	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAATGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0059 a0002c0002t0003g0059	1	151	0.0066	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAATGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCAGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG01243.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0116 a0001c0001t0016g0267 a0001c0001t0004g0116 a0001c0001t0016g0267	2	152	0.0132	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCGGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCAGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTCTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG02572.hp1 others(8): Show HG01109.hp2 HG02257.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004	a0001c0001t0001g0089 a0001c0001t0001g0271 a0001c0001t0002g0215 others(8): Show a0001c0001t0001g0089 a0001c0001t0001g0271 a0001c0001t0002g0215 a0001c0001t0002g0270 a0001c0001t0004g0188 a0001c0001t0010g0194 a0001c0003t0001g0214 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0004g0211 a0001c0003t0004g0216	11	161	0.0683	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCGGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTCTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0195 a0003c0008t0001g0195	1	151	0.0066	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCGGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCACGCCGGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02559.hp1 others(9): Show HG01884.hp2 HG01891.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02922.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0004 a0001c0001 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0006t0001 a0003c0004t0001	a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0002g0120 others(9): Show a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0143 a0001c0001t0004g0117 a0001c0001t0010g0119 a0001c0001t0010g0125 a0001c0006t0001g0096 a0003c0004t0001g0122 a0003c0004t0001g0123	12	162	0.0741	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CACGCCGGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCACCCGCCACCATGCCCGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(59): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19084.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0007t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0005t0011	a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0190 others(59): Show a0001c0001t0001g0141 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0247 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0004g0234 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0272 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0007g0237 a0001c0001t0007g0245 a0001c0001t0009g0278 a0001c0001t0012g0191 a0001c0001t0012g0193 a0001c0001t0014g0001 a0001c0007t0001g0246 a0002c0002t0003g0067 a0002c0002t0003g0233 a0002c0002t0005g0063 a0002c0002t0005g0069 a0002c0002t0005g0082 a0002c0002t0006g0065 a0002c0002t0006g0066 a0002c0002t0006g0068 a0002c0002t0006g0070 a0002c0002t0006g0083 a0002c0002t0011g0220 a0002c0005t0011g0071	62	212	0.2925	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCACCCGCCAC CATGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DMRT1_chr9_836697_974090	854884	G G	GCCTCCCG others(390): Show GCCTCCCGGGTAGCTGGGACTACAGGCTCCCGCCGCCACGCCCGGCTAAT TTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTGTTTGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAACTCCTTAAACTGAAG CAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATTAATGAGACTGATGG TTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTTAAAATTTTTTTGAG GTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAGTGGTGCGATCTCAG CTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0043 a0002c0002t0003g0043	1	151	0.0066	397	c.538 others(414): Show c.538+7748_538+7749insGGTAGCTGGGACTACAGGCTCCCGCCGC CACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACTGTG TTTGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCAAAAC TCCTTAAACTGAAGCAGTAGAGGCAGAAATGAAAGAAAACGCTTAAGATT AATGAGACTGATGGTTTTTGTTTGTTTTTTGTTTTTGTTTTTATTTATTT AAAATTTTTTTGAGGTGGAGTCTCGCTCTGTTGCCCAGACTGGAGTTCAG TGGTGCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATT CTCCTGCCTCAACCTCCCG	DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(390): Show ATATATACTATATATATATAGTATATATATACTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATATAGTATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT ATATATATATAGTATATATATAGTATATATATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0144 a0001c0002t0006g0144	1	169	0.0059	397	c.355 others(416): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATACTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(390): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTAT ATATATATAGTGTATATATATAGTATATATATATAGTGTATATATATAGT ATATATATAGTATATATATAGTATATATAGTATATATGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTATATATATAGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03041.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0210 a0001c0001t0005g0204 a0001c0001t0002g0210 a0001c0001t0005g0204	2	170	0.0118	397	c.355 others(416): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATA TATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATA TAGTATATATGTATATATATATAGTATATATATAGTATATATATATAGTA TATATATAGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DVL1_chr1_1330278_1354418	1351426	G G	GGAGGGGG others(390): Show GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGTCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGTCCTGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGTCC TGGACGGGGCGGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC GGGAGCGACGGGGGGAGTGAGGAGGGGTCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGGTGGGGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03139.hp2 HG02109.hp2 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0009	3	323	0.0093	397	c.-23 others(408): Show c.-2362_-2361insACTCTCCCCACCGCTCCAGCCCCGTCCAGGCCCC CTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGACCCCTCCTCACTC CCCCCGTCGCTCCCGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCCGCCCCGTCCAGGACCCCTCCTCACTCCCCCCGTCGCTCCCGCCCCG TCCAGGACCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGACCC CTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTC CCCCCGTCGCTCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCTGCCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCG TCCAGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		2009		chr1	TogoVar
EHMT1_chr9_137614005_137841127	137716103	G G	GTGGTGTC others(390): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGAGGAAATTGTGGTGTCGTGGTGG GGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	84	0.0119	397	c.86- others(410): Show c.86-495_86-494insGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELOVL6_chr4_110040846_110203615	110084414	C C	CATGATAT others(390): Show CATGATATATGACATATGACATACATGATATATCACATATATCATATATG ATATATCACATATATCATATATGATATATCACATATCATATATGATATAT CACATATATCATATATATCACATATATCATATATATCACATATATCATAT ATATCACATATATCATATATGATATATCACATATATCATATATGATATAT CACATATATCATATATGATATATCACATATATCATATATGATATATCACA TATATCATATATGATATATCACATATATCATATATGATATATCACATATA TCATATATGATATATCACATATATCATATATGATATATCACATATATCAT ATATGATATATCACATATATCATATATGATATATCACATATATCATAT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	214	0.0047	397	c.221 others(416): Show c.221+21082_221+21083insATATGATATATGTGATATATCATATA TGATATATGTGATATATCATATATGATATATGTGATATATCATATATGAT ATATGTGATATATCATATATGATATATGTGATATATCATATATGATATAT GTGATATATCATATATGATATATGTGATATATCATATATGATATATGTGA TATATCATATATGATATATGTGATATATCATATATGATATATGTGATATA TCATATATGATATATGTGATATATATGATATATGTGATATATATGATATA TGTGATATATATGATATATGTGATATATCATATATGATATGTGATATATC ATATATGATATATGTGATATATCATATATGATATATGTGATATATCATGT ATGTCATATGTCATATATCAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EXOC2_chr6_480154_698139	519126	C C	CCACCGAG others(390): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACCCA CCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0023 a0001c0002t0005g0023	1	267	0.0037	397	c.238 others(418): Show c.2380+13342_2380+13343insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGG ACGGTGAGTGTAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGG ACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGG ACGGTGAGTGTCGGCGCTCGGTGGGTGGTGGTTTTCGTCTCCGAGTGTGG ACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241805676	C C	CTCCCTCC others(390): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGC CACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAGCCC AGGGACGTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	296	0.0034	397	c.15 others(408): Show c.1510_*1511insTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GAGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCTCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1390		chr2	TogoVar
GALR1_chr18_77244848_77282900	77253016	C C	CCACCACC others(390): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCTCACACCACCAACCACCATCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCTCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0071 a0001c0001t0110g0071	1	349	0.0029	397	c.666 others(414): Show c.666+1810_666+1811insCCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCTCACACCACCAACCACCATCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CTCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GLT6D1_chr9_135618648_135644540	135619921	A A	ATCTCCCC others(390): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCACCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	425	0.0024	397	c.41 others(408): Show c.4175_*4176insCGGGGGAGACGGGGGAGTAGAGGGGGAAGGGGGA GAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGACGGGGGAGACGGGGG AGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAAGGGGGAGACG GGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGTGGAGAAGGGGGA GAAGGAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGC AGACAGGGGAGACGGGGGAGAAGGGGGAGTAGGGGGAGAAGGGGGAGATA GGGGAGAAGAGGGAGATGGGGGAGTAGGGGGAGTAGGGGAAGAAGGGGGA GAAGGGGATACTGGGCAGATGGGGGAGAAGGGGGAGAAGGGGAGTAGGGG GAGAAGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3726		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135619921	A A	ATCTCCCC others(390): Show ATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCCTTCTCCCCCATCTGC CCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCATC TCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCC CGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCT CCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTC TCCCCCTACTCCCCCGTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCC CTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTACT CCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCGTCTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0074 a0007c0018t0001g0074	1	425	0.0024	397	c.41 others(408): Show c.4175_*4176insCGGGGGAGACGGGGGAGTAGAGGGGGAAGGGGGA GAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGACGGGGGAGACGGGGG AGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAAGGGGGAGACG GGGGAGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAAGGGGGA GAAGGAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGC AGACAGGGGAGACGGGGGAGAAGGGGGAGTAGGGGGAGAAGGGGGAGATA GGGGAGAAGAGGGAGATGGGGGAGTAGGGGGAGTAGGGGAAGAAGGGGGA GAAGGGGATACTGGGCAGATGGGGGAGAAGGGGGAGAAGGGGAGTAGGGG GAGAAGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3726		chr9	TogoVar
GPBP1_chr5_57169059_57269673	57249833	T T	TCCCCTTC others(390): Show TCCCCTTCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCG CCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCCTCCCCTT CCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCC CCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCC TCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCC CTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	223	0.0045	397	c.972 others(412): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCA CCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCC CCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCT CTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCT TCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTC CCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTT CCCCCTTCCCCCTTCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218179	A A	AACACCAC others(390): Show AACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACC ATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCA ACACCACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCC CAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	99	0.0101	397	c.26 others(408): Show c.2661_*2662insACACCACCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACAC CACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACC CCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCCAACAC CCCAATAACCCCCCAACACCACCCCAACACCACCCCCAATACCACCCCCA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCA CCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCC CAACACCACCCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1010		chr8	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(390): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACCAC ACACGCCACACAACGGACCACACATACACCACACACCACAAACACAACCA CACACACACTATACACACACACCACACACACCACACAACAGACCACACAT ACACACACCACACACCACACACACCATACACACACACCACACATACCACA CACACCACACACACAACCACACACACACACCACACACACAACACACAACA GACCACACATACACACACCACAAACACAACCACACACACCACACCATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(68): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18747.hp2 NA18966.hp2 NA18985.hp2 NA18998.hp1 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0024 a0001c0029 a0001c0034 a0001c0039 a0001c0044 a0001c0052 a0002c0020 a0004c0031 a0006c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0038 a0001c0001t0050 a0001c0001t0070 a0001c0001t0081 a0001c0001t0086 a0001c0001t0111 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0036 a0001c0002t0083 a0001c0002t0108 a0001c0002t0114 a0001c0002t0170 a0001c0003t0001 a0001c0003t0003 a0001c0003t0066 a0001c0003t0132 a0001c0003t0161 a0001c0004t0006 a0001c0004t0068 a0001c0005t0002 a0001c0005t0016 a0001c0005t0043 a0001c0005t0104 a0001c0005t0121 a0001c0006t0011 a0001c0006t0075 a0001c0006t0166 a0001c0007t0001 a0001c0007t0120 a0001c0009t0001 a0001c0009t0003 a0001c0011t0001 a0001c0013t0017 a0001c0013t0135 a0001c0014t0034 a0001c0014t0136 a0001c0016t0003 a0001c0016t0056 a0001c0016t0057 a0001c0024t0023 a0001c0029t0004 a0001c0034t0003 a0001c0039t0129 a0001c0044t0003 a0001c0052t0157 a0002c0020t0001 a0004c0031t0106 a0006c0035t0131	a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0002g0012 others(68): Show a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0004g0210 a0001c0001t0007g0138 a0001c0001t0007g0226 a0001c0001t0007g0262 a0001c0001t0008g0196 a0001c0001t0009g0241 a0001c0001t0011g0058 a0001c0001t0014g0132 a0001c0001t0014g0175 a0001c0001t0015g0221 a0001c0001t0038g0165 a0001c0001t0038g0260 a0001c0001t0050g0020 a0001c0001t0070g0053 a0001c0001t0081g0148 a0001c0001t0086g0223 a0001c0001t0111g0191 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0002g0002 a0001c0002t0004g0258 a0001c0002t0036g0250 a0001c0002t0083g0224 a0001c0002t0108g0130 a0001c0002t0114g0203 a0001c0002t0170g0295 a0001c0003t0001g0230 a0001c0003t0003g0218 a0001c0003t0003g0280 a0001c0003t0066g0048 a0001c0003t0132g0197 a0001c0003t0161g0289 a0001c0004t0006g0051 a0001c0004t0068g0071 a0001c0005t0002g0064 a0001c0005t0016g0127 a0001c0005t0043g0054 a0001c0005t0104g0136 a0001c0005t0121g0096 a0001c0006t0011g0001 a0001c0006t0075g0084 a0001c0006t0166g0296 a0001c0007t0001g0151 a0001c0007t0001g0156 a0001c0007t0001g0272 a0001c0007t0120g0163 a0001c0009t0001g0269 a0001c0009t0003g0255 a0001c0011t0001g0211 a0001c0011t0001g0212 a0001c0013t0017g0279 a0001c0013t0135g0154 a0001c0014t0034g0152 a0001c0014t0136g0237 a0001c0016t0003g0195 a0001c0016t0056g0029 a0001c0016t0057g0007 a0001c0024t0023g0030 a0001c0029t0004g0168 a0001c0034t0003g0243 a0001c0039t0129g0193 a0001c0044t0003g0274 a0001c0052t0157g0287 a0002c0020t0001g0206 a0004c0031t0106g0143 a0006c0035t0131g0161	71	79	0.8987	397	c.203 others(414): Show c.2030-441_2030-440insTATGGTGTGGTGTGTGTGGTTGTGTTTG TGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGT GTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGT GTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGT GTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTG TGGTCCGTTGTGTGGCGTGTGTGGTGTGTGGTGTGTGGCGTGGGTGTGTG TAGTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTG AGGTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGT GTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(390): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGGGAGGCGGGGCTCAGG AGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01952.hp1 HG02976.hp1 others(3): Show HG01106.hp1 HG01952.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1	a0002 a0003 a0002 a0003	a0002c0001 a0003c0005 a0003c0010 a0002c0001 a0003c0005 a0003c0010	a0002c0001t0001 a0002c0001t0004 a0003c0005t0012 others(2): Show a0002c0001t0001 a0002c0001t0004 a0003c0005t0012 a0003c0005t0057 a0003c0010t0016	a0002c0001t0001g0193 a0002c0001t0004g0089 a0003c0005t0012g0074 others(3): Show a0002c0001t0001g0193 a0002c0001t0004g0089 a0003c0005t0012g0074 a0003c0005t0057g0073 a0003c0010t0016g0250 a0003c0010t0016g0258	6	105	0.0571	397	c.623 others(414): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGG GGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG CTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(390): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC AGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCG GGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGGGAGGCGGGGCTCAGG AGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0008 a0006c0018t0008	a0006c0018t0008g0229 a0006c0018t0008g0229	1	100	0.0100	397	c.623 others(414): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGC AGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGG GGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGG CTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KHSRP_chr19_6408102_6429811	6429600	A A	AGGAGGAG others(390): Show AGGAGGAGAGGAAGAGGAGAGGGAGGAGGAGAGGAAGAGGAGGAGGAGGA GGAGGAAGGAGGAGGGGAGGAGAGCGAAGAGGAGGAGGGTGAGGAGAGGA AGAGTCCGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GATCTCCGCTGCTTCGGTCGTGCAGGAGGAAGAAAGGAGAGGAGGAGTCT GAGGAAGGAGGAGGAAGGAGGAGGAAAGGAGGAGGAGAAGGAGGAGGGGA AGGGAGGAGGAGGAGAAGGAGGAGGGAAGGAGGGAGGAAGAGAGGAGGAG GAGAGGAGAGGAGGGAGGAAGGAGGGAGGAAAGGAGGAGGAAGAGAGAAA GGAGGAGGGGAGAGCGGATCTGTAGGCGTTATCTTCTTCCTCTAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	382	0.0026	397	c.-49 others(408): Show c.-4900_-4899insCTCCTAGAGGAAGAAGATAACGCCTACAGATCCG CTCTCCCCTCCTCCTTTCTCTCTTCCTCCTCCTTTCCTCCCTCCTTCCTC CCTCCTCTCCTCTCCTCCTCCTCTCTTCCTCCCTCCTTCCCTCCTCCTTC TCCTCCTCCTCCCTTCCCCTCCTCCTTCTCCTCCTCCTTTCCTCCTCCTT CCTCCTCCTTCCTCAGACTCCTCCTCTCCTTTCTTCCTCCTGCACGACCG AAGCAGCGGAGATCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTC CTCCTCCGGACTCTTCCTCTCCTCACCCTCCTCCTCTTCGCTCTCCTCCC CTCCTCCTTCCTCCTCCTCCTCCTCCTCTTCCTCTCCTCCTCCCTCTCCT CTTCCTCTCCTCC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4790		chr19	TogoVar
LCN15_chr9_136754634_136769518	136769262	C C	CCACCCCT others(390): Show CCACCCCTCCATGCACTGCCCCCCGCCACCCCCCCATGCACTGCCCCCCC CGCCACCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCC CCCATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCC CCCGCCACCCCCGCCACCCCCCATGCACTGCCCCCCCCGACACCCCGACA CCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCC CCCCGCCACCCCGCCACCCCCCCATGCACTGCCCCCCCGCCACCCCGCCA CCCCCCATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCC CCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCGCCACCCCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	354	0.0028	397	c.-47 others(408): Show c.-4775_-4774insTCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGG CGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGTCGGGGTGTCGGGGGGGG CAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGGCAGTGCATGGGGGGGTG GCGGGGTGGCGGGGGGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGG CAGTGCATGGGGGGTGTCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTG GCGGGGGTGGCGGGGGGGGCAGTGCATGGGGGGTGTCGGGGTGTCGGGGG GGGCAGTGCATGGGGGGTGGCGGGGTGGCGGGGGGGAAGTGCATGGGGGG GTGGCGGGGTGGCGGGGGGGGCAGTGCATGGGGGGGTGGCGGGGGGCAGT GCATGGAGGGGTG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4745		chr9	TogoVar

Search by Variant

Search

Search Results