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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(431): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0023 a0023	a0023c0069 a0023c0069	a0023c0069t0043 a0023c0069t0043	a0023c0069t0043g0100 a0023c0069t0043g0100	1	126	0.0079	438	c.416 others(459): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTC TCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC TCCCCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCA CATCCCTCTTCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(431): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGG GAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0180 a0002c0002t0038g0180	1	216	0.0046	438	c.923 others(457): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCCCCTTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCC ACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTCCCCATCCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCC TTCCTCCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(431): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCACCACC ACCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCAC CACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCA CCACCACTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	230	0.0044	438	c.724 others(457): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGGTTACA GTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGT GGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGA TGGTTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTG GTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGAT GGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGG TGATGGTTACAG		DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16						chr13	TogoVar
DECR2_chr16_396885_417482	397740	G G	GGGGGTGT others(431): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	367	0.0027	438	c.-42 others(449): Show c.-4224_-4223insGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGG GGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGG GGGT		DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding					4144		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2314227	A A	AAGGAGGG others(431): Show AAGGAGGGAATGAGGGAGGGAAGGAGGGAATGAGGGAGGGAAGGAGGGAG GCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGGAGGCAGGGAGGG AAGGAGGGAAGGAGGAAGGCAGGGAGGCAGGGAGGGAAGGAGGGAGGCAG GGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGG AGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGAGGGAGGGAA GCAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGAAGC AGGGAAGGAGGGAGGGAGGGAGGGAAAGAGGGAAGGAGGGAGGGGAGGGA GGGAAGCAGGGAAGGAGGAAGGCAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAAGAGGGAAGGAGGGAGGGAGGGAGGGGAGGGAAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0007 a0010c0015t0007	a0010c0015t0007g0036 a0010c0015t0007g0036	1	50	0.0200	438	c.287 others(457): Show c.287-22625_287-22624insCCTTTCCCTCCCCTCCCTCCCTCCCT CCTTCCCTCTTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCTCC TTCCCTGCTTCCCTCCCTCCCCTCCCTCCTTCCCTCTTTCCCTCCCTCCC TCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGCCTC CCTCCTTCCCTGCTTCCCTCCCTCCTCCCTCCTTTCCCTCCCTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTT CCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTGCCTTCC TCCTTCCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTGCCTCCCTC CTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCATTCCCTCCTTCCCTCCC TCATTCCCTCCT		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DIP2C_chr10_269201_694668	478276	G G	GAAGAGGG others(431): Show GAAGAGGGGAGGGGAGGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGG AGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGAG AAGGGAGGGGAGGGGTGGAGTAGGGAGGGGTGGGTGGAGAGGGGAGGGGA GGGGAGGTGAAGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAGGGGT GATGAGGGGAGGGGAGGGGTGGGGAGAAGGGAGGGGAGGGGAGGGGAGAA GAGGGGGAGGGGAGGGGGAGAGAGGGGAGGGGAGGGGAGAAGGGGAGGGG AGGAGGGGAGAAGGGAGGGGAGGAGGGGAGAAGGGTGGGGAGGAGGGGAG AAGGGTGGGGGGGGGAGAAGGGAGGGTGGGGAGGAGTGGGGAGATGTGGG GAGGGGAGGGGAGAAGGGAGGGGTGGGGAGAAGAAGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0035 a0001c0013t0002g0035	1	88	0.0114	438	c.158 others(455): Show c.158-5728_158-5727insTCCCTTCTTCTCCCCACCCCTCCCTTCT CCCCTCCCCTCCCCACATCTCCCCACTCCTCCCCACCCTCCCTTCTCCCC CCCCCACCCTTCTCCCCTCCTCCCCACCCTTCTCCCCTCCTCCCCTCCCT TCTCCCCTCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCTCTCCCCCTC CCCTCCCCCTCTTCTCCCCTCCCCTCCCCTCCCTTCTCCCCACCCCTCCC CTCCCCTCATCACCCCTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCC TTCACCTCCCCTCCCCTCCCCTCTCCACCCACCCCTCCCTACTCCACCCC TCCCCTCCCTTCTCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCC TCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCCTCCC CTCCCCTCTT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36						chr10	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(431): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTAA ATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG03130.hp1 HG02109.hp1 HG02615.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0203 a0002c0002t0012g0204 a0002c0002t0012g0206 a0002c0002t0012g0203 a0002c0002t0012g0204 a0002c0002t0012g0206	3	398	0.0075	438	c.477 others(457): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGT GTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATATGT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(431): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGTTT ACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGT AAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	398	0.0025	438	c.477 others(457): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTAT ATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATATGTGTAAATATACCTATGTGTGTATTTACACATATATATGTAAAT ATACCTATGTGT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(431): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATATGTTTACACATATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTGTATTTACACATATATATGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0388 a0001c0001t0005g0388	1	398	0.0025	438	c.477 others(457): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACAC ATATATATGTAAATATACCTATGTGTGTATTTACACATATATATGTAAAT ATACCTATGTGT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(431): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGT AAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0099 a0001c0001t0031g0099	1	398	0.0025	438	c.477 others(457): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTAT ATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATATGTGTAAATATACCTATGTGTGTATTTACACATATATATGTAAAT ATACCTATGTGT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCACCA others(431): Show CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCACACACACCCCCTACCACCATCCTCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATACACACCCCCACCACCATCCTCACCACCAT CCCCATACACACCCCCACCACCATCCTCACCACCATCCCCATACACACCC CCACCACCATCCTCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	250	0.0040	438	c.259 others(457): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG AGGATGGTGGTGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGG GGTGTGTATGGGGATGGTGGTGAGGATGGTGGTGGGGGTGTGTATGGGGA TGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGT GGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGT GTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATG GTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGT GTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGT GGTGATGGTGGT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8						chr2	TogoVar
EML1_chr14_99788413_99947060	99927976	T T	TGGTGGTG others(431): Show TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0217 a0003c0002t0001g0217	1	288	0.0035	438	c.190 others(457): Show c.1909+7109_1909+7110insATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM210A_chr18_13658347_13731558	13675397	C C	CTTTATTT others(431): Show CTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTATTT CCAGTTTCCTGATTATTAACATTCCTGAGACCCGACTTCTTTATTTCCAG TTTCCTGATTAACATTCCTGAGCCGTGACTTATTTCCAGTTTCCTGATTA TTAACATTCCTGAGCCCCGACTTATTTCCAGTTTCCTGATTATTAACATT CCTGAGCCCCGACTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGC CCTGGCTTCTTTTTTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCG ACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTCTTTATTTCCA GTTTCCTGATTATTAACATTCCTGAGCCCCGGCTTCTTT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	326	0.0031	438	c.474 others(455): Show c.474-3425_474-3424insAAAGAAGCCGGGGCTCAGGAATGTTAAT AATCAGGAAACTGGAAATAAAGAAGTCACGGCTCAGGAATGTTAATAATC AGGAAACTGGAAATAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACT GGAAATGAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAAAA AAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAAGT CGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAGTCGGGGCTC AGGAATGTTAATAATCAGGAAACTGGAAATAAGTCACGGCTCAGGAATGT TAATCAGGAAACTGGAAATAAAGAAGTCGGGTCTCAGGAATGTTAATAAT CAGGAAACTGGAAATAAGTCACGGCTCAGGAATGTTAATAATCAGGAAAC TGGAAATAAA		FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3						chr18	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATATATAT others(431): Show ATATATATTTATATACATATAAATATATATTTACATACATATAAATATAT ATTTACATACATATAAATATATACATTTATATACATATAAATATATATTT ACATACATATAAATATATACATTTATATACATATAAATATATACATATAT ACATATAAATATATATTTATATACATATAAATATATATATTTATATATAT TTATATATATATAAATATATATATATTTGTATATATATATAAATATATAT ATATTTATATATATATAAATATATATATATTTATATATATATACATATAA ATATATATTTATATACATATAAATATATAATTATATACATATAAATATAT AATTATATACATATAAATATATATAATTATATACATATAAATATATATTT ATATACATATAAATTTATATACATATAAATATAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	292	0.0034	438	c.49 others(449): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAATTATATATATTTATATGTATA TAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAATA TATATTTATATGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATACAAATATATATATATTTATATATA TATAAATATATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATG TATGTAAATATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4188		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(431): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGTGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	308	0.0033	438	c.157 others(453): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAA GGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAG GTGGGCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGT GGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTG GGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGG GCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CAGTGGGG		FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(431): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATATGTATGTCTATATAGACATATATATCTATATATACA CATATACGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TACGTATATGTGTATATATAGACATATACGTATATGTGTATATACGTATA TGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACGTA TATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATACG TATATGTGTATATATAGACATATATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0199 a0001c0001t0013g0199	1	232	0.0043	438	c.930 others(457): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATATGTATGTCTATATAGACATATATATCTATAT ATACACATATACGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAG ACATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATAC GTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATAT ACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACAT ATACGTATATGTGTATATATAGACATATATATGTATATGTGTATATATGT ATATGTATATAT		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCCACC others(431): Show ACCCCACCTCCATTTCTAGAAATATGCCCCTGACCCCACACATCCATTTC TAGAAACATGTCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCT GACCCACACATCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATT TCTAGAAACATGCCCCTCTGACCACACCTCCATTTCTAGAAACATGCCCC TCTGACCCCACATCCATTTCTAGAAACATGCCCTGACCCCACACATCCAT TTCTAGAAACATGTCCTCTGACCCACCTCCATTTCCAGAAACATGCCCTC TGACCCACACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCAT TTCAGAAACATGCCCCTCTGACCCACACATCATTTCTAGAAACATGTCCC TCTGACCCCACCCATTTCCAGAAACATGCCCCTCTGACC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0176 a0001c0003t0002g0176	1	330	0.0030	438	c.132 others(455): Show c.132-4128_132-4127insGGTCAGAGGGGCATGTTTCTGGAAATGG GTGGGGTCAGAGGGACATGTTTCTAGAAATGATGTGTGGGTCAGAGGGGC ATGTTTCTGAAATGGAGGTGGGGTCAGAGGGACATGTTTCTAGAAATGGA TGTGTGGGTCAGAGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGACA TGTTTCTAGAAATGGATGTGTGGGGTCAGGGCATGTTTCTAGAAATGGAT GTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGTCAGAGGGGC ATGTTTCTAGAAATGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGG ATGTGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTCAGAGGG ACATGTTTCTAGAAATGGATGTGTGGGGTCAGGGGCATATTTCTAGAAAT GGAGGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(431): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCT CCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCC CGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTC GTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0001 a0001c0054t0001	a0001c0054t0001g0071 a0001c0054t0001g0071	1	396	0.0025	438	c.239 others(447): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCG GGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGCGGGGGGCA GGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGA AGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCC AG	p.Ala others(451): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspAla GlyAlaGlyGlyGluAspAlaGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluA spAlaGlyGlyArgArgArgArgCysGlyAlaArgArgArgArgCysGly GlyGlnGluGluLysMetArgGlyGlnGluGluLysMetArgGlyGlnGl uGluLysMetArgGlyGlnGluGluLysMetArgGlyAlaGlyGlyGluA spAlaGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysMetArg GlyPro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(431): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGC CCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCGCATCTTCTCCT CCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCC CGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTC GTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0072 a0001c0055t0001g0072	1	396	0.0025	438	c.239 others(447): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGATGCGGGGGGCA GGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGA AGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCC AG	p.Ala others(451): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspAla GlyAlaGlyGlyGluAspAlaGlyAlaGlyGlyGluAspValGlyAlaGl yGlyGluAspValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluA spValGlyAlaGlyGlyGluAspAlaGlyAlaArgArgArgArgCysGly GlyGlnGluGluLysMetArgGlyGlnGluGluLysMetArgGlyGlnGl uGluLysMetArgGlyGlnGluGluLysMetArgGlyAlaGlyGlyGluA spAlaGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysMetArg GlyPro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440076	C C	CCTGGCCC others(431): Show CCTGGCCCCCGCATCTTCTCCTCCTGTCCCCCGCATCTTCTCCTCCTGCC CCCCGCATCTTCTCCTCCTGCCCCCCGCATCTTCTCCTCCTGCCCCCGCA TCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCC TCCTGCCCCCCGCATCTTCTCCTCCTGGCCCCCGCATCTTCTCCTCCTGC CCCCACATCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGCCCCCACAT CTTCTCCTCCTGCCCCCGCATCTTCTCCTCCTGCCCCCGCATCTTCTCCT CCTGCCCCCGCATCTTCTCCTCCTGGCCCCGCATCTTCTCCTCCTGGTCC CGCATCTTCTCCTCCTGCTCCCATATCTTCTCCTGCTCCTGCATCTTCTC GTGTTCCCACAGCTTCTCCTTCTGTTCCGGTAGCCTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0070 a0001c0053t0001g0070	1	396	0.0025	438	c.239 others(447): Show c.2398_2399insCAGAGGCTACCGGAACAGAAGGAGAAGCTGTGGGAA CACGAGAAGATGCAGGAGCAGGAGAAGATATGGGAGCAGGAGGAGAAGAT GCGGGACCAGGAGGAGAAGATGCGGGGCCAGGAGGAGAAGATGCGGGGGC AGGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGGCAGGAGGAG AAGATGTGGGGGCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATGTG GGGGCAGGAGGAGAAGATGCGGGGGCCAGGAGGAGAAGATGCGGGGGGCA GGAGGAGAAGATGCGGGGGCAGGAGGAGAAGATGCGGGGCCAGGAGGAGA AGATGCGGGGGCAGGAGGAGAAGATGCGGGGGGCAGGAGGAGAAGATGCG GGGGGCAGGAGGAGAAGATGCGGGGGACAGGAGGAGAAGATGCGGGGGCC AG	p.Ala others(451): Show p.Ala799_Gly800insAlaGluAlaThrGlyThrGluGlyGluAlaVa lGlyThrArgGluAspAlaGlyAlaGlyGluAspMetGlyAlaGlyGlyG luAspAlaGlyProGlyGlyGluAspAlaGlyProGlyGlyGluAspAla GlyAlaGlyGlyGluAspAlaGlyAlaGlyGlyGluAspAlaGlyAlaGl yGlyGluAspValGlyAlaGlyGlyGluAspValGlyProGlyGlyGluA spValGlyAlaGlyGlyGluAspAlaGlyAlaArgArgArgArgCysGly GlyGlnGluGluLysMetArgGlyGlnGluGluLysMetArgGlyGlnGl uGluLysMetArgGlyGlnGluGluLysMetArgGlyAlaGlyGlyGluA spAlaGlyGlyArgArgArgArgCysGlyGlyGlnGluGluLysMetArg GlyPro	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2460/3499	2398/2730	800/909			chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143218336	C C	CACACCGC others(431): Show CACACCGCCCACACACCAGCCCCAACACCACCCCCAACACCATCCCCACA CCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCACACCAC CCCCAACACCAGCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCC AACACCACCCCCAACACCACCCCAACACCATCCCCAACACCACCCCCAAC ACCACCCCCACCACCACCCCCAACACCACCCCCAACACCACCCCCACCAC CCCCACACCACCCCCACACCACCCCCACACCACCCCCAACACCATCCCCC AACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACA CCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCAC CCAACACCATGCCCCACACCACCCCCAACACCACCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA19088.hp1 NA18951.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	2	106	0.0189	438	c.28 others(449): Show c.2818_*2819insACACCGCCCACACACCAGCCCCAACACCACCCCC AACACCATCCCCACACCACCCCCACACCACCCCCAACACCACCCCCAACA CCACCCCCACACCACCCCCAACACCAGCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCCAACACCATCCCC AACACCACCCCCAACACCACCCCCACCACCACCCCCAACACCACCCCCAA CACCACCCCCACCACCCCCACACCACCCCCACACCACCCCCACACCACCC CCAACACCATCCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCA ACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACAC CACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAACACCACC CCCA		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1167		chr8	TogoVar
GTPBP6_chrX_299759_323796	321755	A A	AAAAAAAA others(431): Show AAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGT GCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGC CCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC AAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCC CAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG ACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0086 a0003c0004t0001g0086	1	155	0.0065	438	c.-29 others(449): Show c.-2969_-2968insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACT CCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCA CAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTT TTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAAC TCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACC ACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTT TTTT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding					2960		chrX	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(431): Show AGAATATAGAATATATATTCTATATAGAATATAGATTCTATATAGAATAT ATATTCTATATAGAATATAGATTCTATATAGAATCTATATTCTATATATT CTATATATTCTATATAGAATATAGAATCTATATAGAATATATATTCTATA GAATATATATTCTATATTCTATATAGAATATATATTCTATATTCTATATG TAATATAGAATATATATTCTATATTCTATATAGAATATATATTCTATATT CTATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATATG GAATATAGAATATATATTCTATATTACATATAGAATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATATTCCATATAGAATATAGAAT ATATATTCTATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0214 a0001c0001t0007g0214	1	226	0.0044	438	c.123 others(459): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGGAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATGTAATATAGAAT ATATATTCTATATTCCATATAGAATATATATTCTATATTCTATATAGAAT ATATATTCTATATAGAATATAGAATATATATTCTATATAGAATATAGAAT ATATATTCTATATTACATATAGAATATAGAATATATATTCTATATAGAAT ATAGAATATATATTCTATAGAATATATATTCTATATAGATTCTATATTCT ATATAGAATATATAGAATATATAGAATATAGATTCTATATAGAATCTATA TTCTATATAGAATATATATTCTATATAGAATCTATATTCTATATAGAATA TATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
HCN1_chr5_45249948_45701380	45376251	A A	AGAATATA others(431): Show AGAATATAGAATATATATTCTATATAGAATATAGATTCTATATAGAATCT ATATTCTATATAGAATATAGATTCTATATAGAATCTATATTCTATATATT CTATATATTCTATATAGAATATAGAATCTATATAGAATATATATTCTATA GAATATATATTCTATATTCTATATAGAATATATATTCTATATTCTATATG TAATATAGAATATATATTCTATATTCTATATAGAATATATATTCTATATT CTATATAGAATATATATTCTATATAGAATATAGAATATATATTCTATATG GAATATAGAATATATATTCTATATTACATATAGAATATAGAATATATATT CTATATAGAATATAGAATATATATTCTATATTCCATATAGAATATAGAAT ATATATTCTATATAGAATATATATTCTATATAATATATG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0115 a0001c0001t0007g0115	1	226	0.0044	438	c.123 others(459): Show c.1230+20240_1230+20241insCATATATTATATAGAATATATATT CTATATAGAATATATATTCTATATTCTATATGGAATATAGAATATATATT CTATATTCTATATAGAATATATATTCTATATTCTATATGTAATATAGAAT ATATATTCTATATTCCATATAGAATATATATTCTATATTCTATATAGAAT ATATATTCTATATAGAATATAGAATATATATTCTATATAGAATATAGAAT ATATATTCTATATTACATATAGAATATAGAATATATATTCTATATAGAAT ATAGAATATATATTCTATAGAATATATATTCTATATAGATTCTATATTCT ATATAGAATATATAGAATATATAGAATATAGATTCTATATAGAATCTATA TTCTATATAGAATATAGATTCTATATAGAATCTATATTCTATATAGAATA TATATTCTATATTC		HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7						chr5	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(431): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATATTATATTATATATAATATATTTTATATAATATATAA TATATATTATATTATATATAATATATTTTATATAATATATAATATATATT ATATTATATATAATATATTTTATATAATATATAATATATATTATATTATA TATAATATATTTTATATAATATATAATATATATTATATTATATATAATAT ATTTTATATAATATATAATATATATTATATTATATATAATATATTTTATA TAATATATAATATATATTATATTATATATAATATATTTTATATAATATAT AATATATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	314	0.0032	438	c.661 others(455): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATATAATATAATATATATTATATATTATATAAAATATATTATAT ATAATATAAT		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24						chr10	TogoVar
IYD_chr6_150364012_150410969	150372601	G G	GTGTGTCC others(431): Show GTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGGGTG GTGAGGGAACATTGTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGT GGGGTGGGGAGTGGTGAGGGGTCATGTTGTGACCATGCTTATTAGACATG TGTGTGTGTGGGTGAGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATG CTTAATAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCA TGTTGTGTCCATGCTTATTAGACATGTGTGTGTGTGGGTGGGGTGGGGGG TGGTGAGAGAACATTGTGTGTCCATGCTTATTAGACATGTGTGTGTGGGG GTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACA TGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	414	0.0024	438	c.178 others(455): Show c.178+3395_178+3396insGTCCATGCTTATTAGACATGTGTGTGTG GGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAG ACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCATGTTGTGA CCATGCTTATTAGACATGTGTGTGTGTGGGTGAGGTGGGGGGTGGTGAGG GAACATTGTGTGTCCATGCTTAATAGACATGTGTGTGTGGGGGTGGGGTG GGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATGTGTGTG TGTGGGTGGGGTGGGGGGTGGTGAGAGAACATTGTGTGTCCATGCTTATT AGACATGTGTGTGTGGGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGT GTCCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGA GGGGTCATGT		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63234244	A A	AGCACTTT others(431): Show AGCACTTTGGGAGGCTGAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGA CCAGCCTGGGCAACATGGCGAGACCCTGTTTCTACAAGAAATACAAAAAT TAGGCAGGTGTTATGGTGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTG AAGTGGGAGGATTGCTTGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACG ATCGCACCACTGCACTCCAGCCTCATCAACAGAGAGAAACCTCCTCTTAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACCTTCC CTATCCTATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTTTAGA TTTGCTAAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTTAATG CAATATTAAGCTGGGCATGGTGGTTCACGCTTGTAATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00735.hp1 others(11): Show HG00099.hp1 HG00544.hp2 HG00735.hp1 HG01256.hp1 HG02004.hp1 HG02015.hp1 HG02165.hp2 HG02273.hp1 NA19000.hp2 NA19003.hp1 NA19060.hp1 NA19081.hp1 NA19087.hp1 NA19090.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0003c0035 a0008c0009 a0003c0003 a0003c0035 a0008c0009	a0003c0003t0001 a0003c0035t0001 a0008c0009t0001 a0003c0003t0001 a0003c0035t0001 a0008c0009t0001	a0003c0003t0001g0167 a0003c0003t0001g0171 a0003c0003t0001g0174 others(11): Show a0003c0003t0001g0167 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0178 a0003c0003t0001g0188 a0003c0003t0001g0191 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0035t0001g0206 a0008c0009t0001g0190 a0008c0009t0001g0193	14	310	0.0452	438	c.448 others(457): Show c.448-14262_448-14261insGGATTACAAGCGTGAACCACCATGCC CAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTTTAACGA TATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAGGTTTTT TTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTAAGAGGAGGTTTCTCTCTGTTGATGAGGCTGGAGT GCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTACCTCCCATGCTCAAGC AATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGACTACAGGCATGCACCA TAACACCTGCCTAATTTTTGTATTTCTTGTAGAAACAGGGTCTCGCCATG TTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCGTTTCACCTGCCTCAGC CTCCCAAAGTGC		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(431): Show TAAAAAAAAAAAAAAAAAAAAAACACCAAAAACAAAAACCTTCCCTATCC TATAAAAAAAAACCTTTTAATATGTTAATACTTAAATTTTTAGATTTGCT AAAAATATCGTTAAAGGCCTATAAAAAGAACGAGTTATTTAATGCAATAT TAAGCTGGGCATGGTGGTTCACGCTTGTAATCCTAGCACTTTGGGAGGCT GAGGCAGGTGAAACGCTGAGCCCAGAGTTTGAGACCAGCCTGGGCAACAT GGCGAGACCCTGTTTCTACAAGAAATACAAAAATTAGGCAGGTGTTATGG TGCATGCCTGTAGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGGATTGCT TGAGCATGGGAGGTAGAGGCTGCAGTGAGCCACGATCGCACCACTGCACT CCAGCCTCATCAACAGAGAGAAACCTCCTCTTAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0199	1	310	0.0032	438	c.448 others(457): Show c.448-14511_448-14510insTTTTTTTAAGAGGAGGTTTCTCTCTG TTGATGAGGCTGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTCTA CCTCCCATGCTCAAGCAATCCTCCCACTTCAGCCTCTCAAGTAGCTGGGA CTACAGGCATGCACCATAACACCTGCCTAATTTTTGTATTTCTTGTAGAA ACAGGGTCTCGCCATGTTGCCCAGGCTGGTCTCAAACTCTGGGCTCAGCG TTTCACCTGCCTCAGCCTCCCAAAGTGCTAGGATTACAAGCGTGAACCAC CATGCCCAGCTTAATATTGCATTAAATAACTCGTTCTTTTTATAGGCCTT TAACGATATTTTTAGCAAATCTAAAAATTTAAGTATTAACATATTAAAAG GTTTTTTTTTATAGGATAGGGAAGGTTTTTGTTTTTGGTGTTTTTTTTTT TTTTTTTTTTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25						chr10	TogoVar
KIAA0930_chr22_45187244_45245894	45208439	A A	AACTCCAC others(431): Show AACTCCACACACACGAGCTGTGAGAACAGGCAGAATCCGCCAACTCCATA CACACGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACACATGAGCT GTGAGAACAGGCAGAACCACCGACCCCACACGCAGGAGCTGTGAGAACAG GCAGAACCACTGACTCCACACGCACGAGCTGTAAGAACAGGTAGAACCCA CCAACTCCACACACACGAGCTGTGAGAACAGGCAGAACCCAACTCCACAC GCAGGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACGCACGAGCTG TGAGAACAGGCAGAACCCAACTCCACACGCAGGAGCTGTGAGAACAGGCA GAACCACCGACTCCACACACATGAGCTGTGAGAACAGGCAGAACCACCGA CTCCACACACAGGAGCTGTGAGAACAGGCAGAACCACCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0056 a0001c0001t0055g0056	1	398	0.0025	438	c.217 others(455): Show c.217-2528_217-2527insCGGTGGTTCTGCCTGTTCTCACAGCTCC TGTGTGTGGAGTCGGTGGTTCTGCCTGTTCTCACAGCTCATGTGTGTGGA GTCGGTGGTTCTGCCTGTTCTCACAGCTCCTGCGTGTGGAGTTGGGTTCT GCCTGTTCTCACAGCTCGTGCGTGTGGAGTCGGTGGTTCTGCCTGTTCTC ACAGCTCCTGCGTGTGGAGTTGGGTTCTGCCTGTTCTCACAGCTCGTGTG TGTGGAGTTGGTGGGTTCTACCTGTTCTTACAGCTCGTGCGTGTGGAGTC AGTGGTTCTGCCTGTTCTCACAGCTCCTGCGTGTGGGGTCGGTGGTTCTG CCTGTTCTCACAGCTCATGTGTGTGGAGTCGGTGGTTCTGCCTGTTCTCA CAGCTCGTGTGTATGGAGTTGGCGGATTCTGCCTGTTCTCACAGCTCGTG TGTGTGGAGT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45208439	A A	AACTCCAC others(431): Show AACTCCACACACACGAGCTGTGAGAACAGGCAGAATCCGCCAACTCCATA CACACGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACACATGAGCT GTGAGAACAGGCAGAACCACCGACCCCACACGCAGGAGCTGTGAGAACAG GCAGAACCACTGACTCCACACGCACGAGCTGTAAGAACAGGTAGAACCCG CCAACTCCACACACACGAGCTGTGAGAACAGGCAGAACCCAACTCCACAC GCAGGAGCTGTGAGAACAGGCAGAACCACCGACTCCACACGCACGAGCTG TGAGAACAGGCAGAACCCAACTCCACACGCAGGAGCTGTGAGAACAGGCA GAACCACCGACTCCACACACATGAGCTGTGAGAACAGGCAGAACCACCGA CTCCACACACAGGAGCTGTGAGAACAGGCAGAACCACCG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp2 NA18747.hp1 others(6): Show HG02040.hp1 HG02071.hp2 NA18747.hp1 NA18747.hp2 NA18951.hp1 NA18960.hp1 NA19057.hp1 NA19065.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0062 a0001c0004t0145 others(4): Show a0001c0004t0054 a0001c0004t0062 a0001c0004t0145 a0001c0004t0146 a0001c0004t0149 a0001c0004t0150 a0001c0004t0160	a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0062g0064 others(6): Show a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0062g0064 a0001c0004t0062g0351 a0001c0004t0145g0037 a0001c0004t0146g0053 a0001c0004t0149g0063 a0001c0004t0150g0055 a0001c0004t0160g0058	9	398	0.0226	438	c.217 others(455): Show c.217-2528_217-2527insCGGTGGTTCTGCCTGTTCTCACAGCTCC TGTGTGTGGAGTCGGTGGTTCTGCCTGTTCTCACAGCTCATGTGTGTGGA GTCGGTGGTTCTGCCTGTTCTCACAGCTCCTGCGTGTGGAGTTGGGTTCT GCCTGTTCTCACAGCTCGTGCGTGTGGAGTCGGTGGTTCTGCCTGTTCTC ACAGCTCCTGCGTGTGGAGTTGGGTTCTGCCTGTTCTCACAGCTCGTGTG TGTGGAGTTGGCGGGTTCTACCTGTTCTTACAGCTCGTGCGTGTGGAGTC AGTGGTTCTGCCTGTTCTCACAGCTCCTGCGTGTGGGGTCGGTGGTTCTG CCTGTTCTCACAGCTCATGTGTGTGGAGTCGGTGGTTCTGCCTGTTCTCA CAGCTCGTGTGTATGGAGTTGGCGGATTCTGCCTGTTCTCACAGCTCGTG TGTGTGGAGT		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	2/9						chr22	TogoVar
KLK6_chr19_50953631_50974591	50959674	G G	GAGAAAAG others(431): Show GAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAGGAG AGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGGAG ATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAGAG GAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGGAG AGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAGGAA GAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGAGAA AATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGAGGAGGGGGAGG AGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGTGGAGGAGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	316	0.0032	438	c.583 others(453): Show c.583-359_583-358insTCCTCTCCTCCTCCTCCACTTCCTCCTTCT CCTCTTCCTCCTCCTCTTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCT CCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCTCCTCCCCCTCCTCCTC TTCCTCATTTTCTCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCC TTCTTCCTCTTCCTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTC CCTCTCCCTCTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCC TCCTTCTTCCTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTC CTCCTCCATCTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCC CTCTTCCCTCTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCT TCTTTTCT		KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6						chr19	TogoVar
LMF1_chr16_848634_975984	859484	G G	GTGGTGTC others(431): Show GTGGTGTCTCGGGACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGAGTG ATGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGATG TCACGGGACGTGTGTGAGTGGTGTCTCGGGACGTGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGA CGGGTGTGAGTGATGTCTCGGGACCGGTGTGAGTGGTGTCACGGGACCGG TGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGCCGTGGTGTCTCGGGACGGGTGTGCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp2 HG01069.hp1 HG01071.hp2 HG01884.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0030 a0001c0006 a0003c0030	a0001c0006t0002 a0003c0030t0002 a0001c0006t0002 a0003c0030t0002	a0001c0006t0002g0282 a0001c0006t0002g0283 a0003c0030t0002g0008 a0001c0006t0002g0282 a0001c0006t0002g0283 a0003c0030t0002g0008	3	294	0.0102	438	c.153 others(457): Show c.1530-4779_1530-4778insGGGCACACCCGTCCCGAGACACCACG GCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGT GACACCACTCACACCGGTCCCGTGACACCACTCACACCGGTCCCGAGACA TCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGAGACACCACTCACACACGTCCCGAGACACCACTCAC ACACGTCCCGTGACATCACTCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGTGACATCACTCACACCCGTCCCGAGACATCACTGCACACCCGT CCCGAGACACCA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(431): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACCTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	296	0.0034	438	c.368 others(455): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAGG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(431): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	296	0.0034	438	c.368 others(455): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTG		LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18						chr1	TogoVar
LUC7L_chr16_183990_234449	186323	G G	GGAGGAAC others(431): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGG AGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	350	0.0029	438	c.28 others(449): Show c.2874_*2875insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2666		chr16	TogoVar
LUC7L_chr16_183990_234449	186952	G G	GGGAACAG others(431): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAG CGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGGACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGC AGGAACAGCGACACGGGGCAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	350	0.0029	438	c.22 others(449): Show c.2245_*2246insTCCCCCGTGTCGCTGTTCCTGCCCCGTGTCGCTG TTCCTGCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCG TGTCGCTGTCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2037		chr16	TogoVar
MAD1L1_chr7_1810795_2237945	1929810	A A	ACTGCCAC others(431): Show ACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCATCCCGT CCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCG CCCCGTCCCCACTGCCACGTCCCCTCACCCCATCCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCACCCCGTCCCCACT GCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCC GTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCG CCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02698.hp2 HG02818.hp2 others(10): Show HG01255.hp2 HG02698.hp2 HG02818.hp2 HG02976.hp1 HG03225.hp1 HG04228.hp1 NA18940.hp1 NA18963.hp1 NA18969.hp2 NA18990.hp1 NA19043.hp2 NA19056.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0007t0004 a0004c0008t0001	a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 others(10): Show a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0208 a0001c0001t0001g0248 a0001c0003t0001g0042 a0001c0003t0001g0074 a0001c0003t0001g0088 a0001c0006t0001g0218 a0001c0007t0004g0078 a0001c0007t0004g0079 a0004c0008t0001g0194	13	264	0.0492	438	c.180 others(457): Show c.1807+6876_1807+6877insCGGGGACGGGGCGAGGGGACGTGGCA GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGG GTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGC GAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGCGGGGACG GGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGG GGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGTGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGAC GTGGCAGTGGGGGACGGGATGAGGGGACGTGGCAGTGTGGACGTGGTGGT GGGTTGTGGCAG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18						chr7	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(431): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCAGATGGGGCGGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCCACCT CCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGACTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	438	c.134 others(457): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCAGTCCCCCCGCCAGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCCGCCCCATCTGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCACCCCG		MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11						chr9	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(431): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0068 a0001c0001t0028g0068	1	191	0.0052	438	c.343 others(455): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATGAATATATAT GAATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATGAATCT ATATATGAAT		MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8						chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(431): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp2 NA18974.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	2	390	0.0051	438	c.112 others(455): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATA		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(431): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	390	0.0026	438	c.112 others(455): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAATATATAT		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7						chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(431): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0047 a0003c0006t0001g0047	2	390	0.0051	438	c.112 others(455): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATATAT		METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7						chr1	TogoVar
MPPED1_chr22_43407014_43512848	43499939	T T	TGATGGAG others(431): Show TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTG GTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAG TGATGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATG GTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGT GGTGATGGTGGTGGAGGTGGTGGTGATGGCGATGGAGGTGGTGATGGTGG TGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTG GAGGTGGTGGTGATGGCGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGT GGTGGTGATGGCGATGGAGGTGGTGATGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19002.hp1 NA18945.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0215 a0001c0002t0001g0095 a0001c0001t0001g0215 a0001c0002t0001g0095	2	250	0.0080	438	c.748 others(455): Show c.748+1590_748+1591insATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGGTAGTGGTGGTG ATGAAGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGT GATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTG GTGGTGATGGGGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGATGGC GATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGATGGCGATGGAGGTGGTG ATGGTGGTGGTGGAGGTGGTGGTGGTGATGGCGATGGAGGTGGTGATGGT GGTGGTGGAG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500017	A A	AGGTGGTG others(431): Show AGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGA TGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGA TGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGATGGGGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0124 a0001c0001t0007g0124	1	250	0.0040	438	c.748 others(455): Show c.748+1683_748+1684insGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTG ATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGC AGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGATG GGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGT GGTGGTGGTG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(431): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATG GAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0098 a0001c0001t0021g0098	1	250	0.0040	438	c.748 others(455): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTG GTGGTGATGG		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(431): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	364	0.0028	438	c.18 others(449): Show c.1840_*1841insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGT AGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCACCACG CCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTC ACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCGGCATC CCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCTGGAGA GCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATCCTCCC ACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCATGCCTG CCTA		MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding					1745		chr1	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(431): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAA AAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAA GCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATATATATTATAT ATATATAAAACCAAAACCAGAAGACCTAATTATATATATATATTTAGGTC CTCTGGTTTTGGTTTTTTATATATATATATATATATTTAGGTCTTCTGGT TTTGGTTTTATATATATATTTATATAAATATAAATATATAAATATATATA ATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0186 a0001c0001t0010g0190 a0001c0001t0010g0186 a0001c0001t0010g0190	2	312	0.0064	438	c.293 others(457): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATTTAGCTATATTTATATCAGATAAAATGGATTAAAAGTCAAAAA CTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATT CTTCAAGAACATATAACTACTGTAAATATATATATTATATATATATAAAA CCAAAACCAGAAGACCTAATTATATATATATATTTAGGTCCTCTGGTTTT GGTTTTTTATATATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTA TATATATATTTATATAAATATAAATATATAAATATATATAATTATATATA TATTTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCC TCTGGTTTTGGT		MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr12	TogoVar
MYDGF_chr19_4652545_4675342	4663619	T T	TACACAGC others(431): Show TACACAGCCTCCAATCTATCCTCCCCACCCACCCCACCCTCATTCTACAC AGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACACAGCCT CCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCT GTGCCCTCTCCACCCACCCCACCCTCATTCTACACAGCCTCCAATCTACC CTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCA CCTCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCACCCCA TCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCAT TCTACAGCCTCCAATCTACCCTCCCCACCCCATCCTCATTCTACACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp2 HG03225.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0016 a0002c0002t0003g0016	2	410	0.0049	438	c.287 others(455): Show c.287+1256_287+1257insGTAGAATGAGGATGGGGTGGGTGGGGAG GGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGGAGGGTAGATTG GAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTG TAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAA TGAGGATGAGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATGGGG TGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGGTGGGGTGGGT GGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGA GGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTA GATTGGAGGCTGTGTAGAATGAGGGTGGGGTGGGTGGGGAGGATAGATTG GAGGCTGTGT		MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5						chr19	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(431): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATAAAATATATATTATATTATAT AATATATATTATATAAAATATATATTATATTATATATAATATATATTTTA TAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	368	0.0027	438	c.51 others(449): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATATAATATATATTATATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATATAATATATAT TATATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTATATATAATATATATTA TATA		MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding					4927		chr12	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(431): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTGGGTC CCTCTGCCCTCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0370	1	378	0.0027	438	c.148 others(457): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTT GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAA GGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGGGGGCGGAGGGACCCAG GGTCGGTAAGGA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar

Search by Variant

Search

Search Results