Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAACA others(410): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGG AGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGA GGAGGGAGAGGTGATAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03704.hp2 HG03942.hp2 others(1): Show HG03491.hp2 HG03704.hp2 HG03942.hp2 HG04184.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0037 a0002c0003t0003 a0002c0003t0037	a0002c0003t0003g0222 a0002c0003t0003g0290 a0002c0003t0037g0289 others(1): Show a0002c0003t0003g0222 a0002c0003t0003g0290 a0002c0003t0037g0289 a0002c0003t0037g0291	4	368	0.0109	417	c.353 others(432): Show c.353-915_353-914insAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGA TGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAG AGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(410): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCT CACTCTCCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	417	c.-27 others(428): Show c.-2761_-2760insTGAGGGAGAGGGAGAGTGAGGGAGAGGGAGAGTG AGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LHPP_chr10_124456823_124619141	124507259	G G	GGGTAGGG others(410): Show GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGG GAGGATTTCAGGTGTGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	260	0.0039	417	c.624 others(434): Show c.624+9133_624+9134insTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(410): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGG TGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	260	0.0039	417	c.717 others(434): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGG TGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG GTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGA GCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGG TGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGGGTG AGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(410): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATAATATATATTTATATATAATATATAATATATAATATATAATATATA TTATATATAATATATTATATATAATATATTATATATAATTATATATAATA TATAATTATATATTATATATAATTATATAATATATAATATATATATTATT ATATATATAATAATATATATATAATATATAATTATACATAATATATAATA TATAATTATAATATATAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02040.hp1 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	2	316	0.0063	417	c.622 others(432): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAATATATAATATATAATATATATTTATATATAATATATAAT ATATAATATATAATATATATTATATATAATATATTATATATAATATATTA TATATAATTATATATAATATATAATTATATATTATATATAATTATATAAT ATATAATATATATATTATTATATATATAATAATATATATATAATATATAA TTATACATAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
MAGI1_chr3_65348526_66043918	65855620	A A	AGAGAGGG others(410): Show AGAGAGGGGAGGGGACGGGGGAGGAGAGAGGGGAGGGGACAGGGCAGGGG AAAGGGGAGGGTAGAGGGCAGGAGAGAGTGAAGGGGAGGGGGAGGGAAGA GGGGAGGGGAGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAAGGGAGAGG GGAGGGGACAGGGGAGGGGACAGGGGAGGGGAGGGGAGAGGGGAGGGGAC AGGGGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGA GAGGGGAGAGGGGAGAGGAAGGGAGAGGGGAGGGGAGAGGGGAGGGGAGA AGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGGGAGAGG GGAGGGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01884.hp1 HG01891.hp2 others(18): Show HG00738.hp2 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0003c0003t0001 a0004c0004t0001 a0004c0004t0012 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0002g0014 a0001c0001t0002g0065 a0001c0001t0011g0102 a0001c0005t0001g0009 a0001c0005t0001g0027 a0002c0002t0001g0061 a0002c0002t0001g0087 a0002c0002t0002g0084 a0002c0002t0010g0013 a0003c0003t0001g0012 a0004c0004t0001g0094 a0004c0004t0012g0103 a0005c0006t0001g0054	21	104	0.2019	417	c.313 others(438): Show c.313+182375_313+182376insCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCTTCCTCTCCCCTCTCCCCTCTCCCCT CCCCTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTGTCCCC TCCCCTCTCCCCTCCCCTCCCCTGTCCCCTCCCCTGTCCCCTCCCCTCTC CCTTCCCCTCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTTCC CTCCCCCTCCCCTTCACTCTCTCCTGCCCTCTACCCTCCCCTTTCCCCTG CCCTGTCCCCTCCCCTCTCTCCTCCCCCGTCCCCTCCCCTCTC	MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22			chr3	TogoVar
MALRD1_chr10_19043801_19739478	19238066	T T	TATAATTA others(410): Show TATAATTATCTGTAATTTTATATAGTTTATATATAATTATCTGTAATTTT ATATAGTTATATATAATTATATGTAATTTTATATGGTTATATATAATTAT ACGTAGTTTTACATAGTTATATATAGTTATAACTATATGTAGTTATATAT AATTATATAATTATATATAATTTATATACTTATAAATATGTAATTATATA TGTTATAATTATAAATATATATAATATAAATATACAATACATTTTATATA ATATATAATATATAGTATAATACAAAATATACATTATAATATATTATATA AAAATATTATAATATATAATAATATATATTATAATATATATAATATATAT AATATATTATAATATATATTATATATAGTATAATATATATATTATAATTC ATACTATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0061 a0061	a0061c0110 a0061c0110	a0061c0110t0002 a0061c0110t0002	a0061c0110t0002g0081 a0061c0110t0002g0081	1	152	0.0066	417	c.299 others(438): Show c.2992-19616_2992-19615insAATTATCTGTAATTTTATATAGTT TATATATAATTATCTGTAATTTTATATAGTTATATATAATTATATGTAAT TTTATATGGTTATATATAATTATACGTAGTTTTACATAGTTATATATAGT TATAACTATATGTAGTTATATATAATTATATAATTATATATAATTTATAT ACTTATAAATATGTAATTATATATGTTATAATTATAAATATATATAATAT AAATATACAATACATTTTATATAATATATAATATATAGTATAATACAAAA TATACATTATAATATATTATATAAAAATATTATAATATATAATAATATAT ATTATAATATATATAATATATATAATATATTATAATATATATTATATATA GTATAATATATATATTATAATTCATACTATATATAATATAAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(410): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCAT CACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18975.hp1 NA19080.hp1 others(1): Show NA18948.hp2 NA18975.hp1 NA19080.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 others(1): Show a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312	4	362	0.0111	417	c.391 others(432): Show c.391+838_391+839insTCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCAC CACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCATCACCATCACCACCACCACCATC ACCACCATCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477856	G G	GGGGGAGG others(410): Show GGGGGAGGGGGGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGG GGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGG GGGGAGGGGGGGGAGGGGGAGGGGGGAGGGGGGGGAGGGGGAGGGGGAGG GGCGGAGAGGGGGGAGGGGCGGAGAGGGGGGAGGGGGGAGAGGGGGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAG AGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGGGGGG AGGGGGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0006 a0003c0004t0004g0006	1	163	0.0061	417	c.525 others(434): Show c.525+8625_525+8626insTCTCCCCCCTCCCCCCCTCCCCCCTCCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCT CTCCCCCCTCCCCCCTCTCCGCCCCTCCCCCCTCTCCGCCCCTCCCCCTC CCCCTCCCCCCCCTCCCCCCTCCCCCTCCCCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCCTCCCCCCTCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01346.hp2 others(13): Show HG00639.hp1 HG01169.hp1 HG01346.hp2 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG02300.hp1 HG02683.hp2 HG02698.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0003g0001 a0001c0001t0003g0010 others(2): Show a0001c0001t0001g0110 a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0126 a0001c0001t0003g0131	16	390	0.0410	417	c.112 others(434): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG03041.hp2 others(1): Show HG01167.hp1 HG02109.hp2 HG03041.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0002c0002t0005 a0001c0001t0002 a0001c0003t0001 a0002c0002t0005	a0001c0001t0002g0172 a0001c0003t0001g0080 a0002c0002t0005g0252 others(1): Show a0001c0001t0002g0172 a0001c0003t0001g0080 a0002c0002t0005g0252 a0002c0002t0005g0253	4	390	0.0103	417	c.112 others(434): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG03942.hp2 others(1): Show HG02572.hp2 HG02723.hp1 HG03942.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0120 a0001c0001t0001g0187 a0001c0001t0001g0229 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0187 a0001c0001t0001g0229 a0001c0001t0004g0212	4	390	0.0103	417	c.112 others(434): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTCAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	390	0.0026	417	c.112 others(434): Show c.1122-171_1122-170insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735535	A A	AAAAAAAA others(410): Show AAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	390	0.0026	417	c.112 others(434): Show c.1122-167_1122-166insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432643	G G	GGAGAGAG others(410): Show GGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGA AGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGAGAGAGAGAGAA AGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19240.hp1 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0034 a0001c0006t0005g0038 a0001c0006t0005g0034 a0001c0006t0005g0038	2	250	0.0080	417	c.225 others(434): Show c.225-2390_225-2389insAGAGAGAGGGAAAGAGAGAGAGAAGGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432661	A A	AGAGAGAG others(410): Show AGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG ATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGATAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0160 a0001c0003t0010g0160	1	250	0.0040	417	c.225 others(434): Show c.225-2366_225-2365insGGAAAGAGAGAAGGGGAGGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG ATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAA GGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144203089	G G	GGGGGGGG others(410): Show GGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCC GCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCCCGCTCTCTGTGGAGGG GCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGTCTGTGGA GGGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAG CGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGAGCGCCCGCTGTCTGTG GAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGCGGGGGGGGAGCG CCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAG CGCCCGCTGTCTGTGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0038 a0002c0008t0001g0038	1	140	0.0071	417	c.114 others(436): Show c.1141+2555_1141+2556insAGCGCCCGCTGTCTGTGGAGGGGCGG GGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGAGGGGAGCGCC CGCTCTCTGTGGAGGGGCGGGGAGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGTCTGTGGAGGGGCGGGGAGGGGAGCTCCCGCTGTCTGTGGAG GGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTG GAGCGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGGAGCG CCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGAG GGGCGGGGGGGGGAAGCGCCCGCTGTCTGTGGATGGGGGGG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG01346.hp1 others(12): Show HG00639.hp1 HG01169.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp2 HG01975.hp2 HG02300.hp1 HG02683.hp2 HG02698.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp1 NA18977.hp1 NA18983.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0002g0002 a0003c0003t0001g0019	15	364	0.0412	417	c.18 others(428): Show c.1863_*1864insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02109.hp1 HG03041.hp2 others(1): Show HG01167.hp2 HG02109.hp1 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0004g0034	4	364	0.0110	417	c.18 others(428): Show c.1863_*1864insTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGC CACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCT CGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGG CTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAA TCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACC ATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03942.hp1 others(1): Show HG02572.hp1 HG02723.hp2 HG03942.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0005 a0001c0001t0001g0013	4	364	0.0110	417	c.18 others(428): Show c.1863_*1864insTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGG AGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCG CCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCA CCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCC TCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAG GCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCA ATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTAC CATGCCTGCCTATTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(410): Show TAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAG ACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTA CAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGAC CCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAG GTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTAC TAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGA GCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGA GCGAGACGCCATCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	364	0.0028	417	c.18 others(428): Show c.1863_*1864insTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTG GAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTC GCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTC ACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGC CTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCA GGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTC AATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTA CCATGCCTGCCTATTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735535	A A	AAAAAAAA others(410): Show AAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	417	c.18 others(428): Show c.1862_*1863insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1767		chr1	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(410): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAG AAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAA GAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGA AGCAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAG AAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAA GCAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	294	0.0034	417	c.677 others(432): Show c.677+292_677+293insTTCTTCTTCTTCTTCTGCTTCTTCTTCTTC TTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTTCTGCTTCTTCTT CTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTGCTTCTTC TTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250613	G G	GGAAGCAG others(410): Show GGAAGCAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAA GAAGCAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAG AAGAAGAAGAAGCAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGCA GAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGCAGAAGAAGAAGAAGCAGA AGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAAGCAGAAGCAG AAGCAGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGCAGAAGAAGAA GAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	294	0.0034	417	c.677 others(432): Show c.677+292_677+293insTTCTTCTTCTTCTTCTTCTTCTTCTTCTGC TTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTT CTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCT TCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTGC TTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTGCTT CTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTGCTTCTTCTTCTTCTGC TTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTGCTTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYL2_chr12_110905845_110925579	110905926	A A	ATATATTA others(410): Show ATATATTATATATAATATATATTATATATAATATATATTATATTATATAA TATATATTATATATAATATATATTATATATAATATAATATATATTATATA TAATATATATTATATAATATAATATATATTATATATAATATATATTATAT TATATATAATATATATTATATATAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATTATATATAAA ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	368	0.0027	417	c.51 others(428): Show c.5150_*5151insATATATATTTTATATAATATATATTATATATAAT ATAATATATATTTTATATAATATATATTATATAATATAATATATATTTTA TATAATATATATTATATATAATATAATATATATTTTATATAATATATATT ATATATAATATAATATATATTTTATATAATATATTTTATATATAATATAA TATATATTATATATAATATAATATATATTTTATATAATATATATTATATA TAATATATATTATATATAATATATATTATATATAATATAATATATATTAT ATATAATATATATTATATTATATAATATATATTATATATAATATATATTA TATTATATATAATATATATTATATATAATATATATTATATAATATAATAT ATATTATATATAATATATATTATATATAATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4918		chr12	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AAATAATT others(410): Show AAATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTG GGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAG GTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGAGGATGATA TAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	364	0.0028	417	c.84 others(426): Show c.840_*841insAATAATTTCTGGGGGAGGATGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGAT ATAATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATA ATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCT GGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NELFB_chr9_137250327_137278542	137273768	A A	AATAATTT others(410): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATAATTTCTGGG GGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGT TGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATGATAT AATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTTCTGGGGG AGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATGTAA TTTCTGGGGGAGGTTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	364	0.0028	417	c.84 others(426): Show c.840_*841insATAATTTCTGGGGGAGGATGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGAGGTTGATATAATTTCTGGGGGAGGATAT AATAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAAT TTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGG AGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATA TAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTT CTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGTTGATGTAATTTCTGGGGGAGGTTGAT	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding		227		chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(410): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGA GTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCG GGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTC CCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0285 a0001c0011t0001g0285	1	324	0.0031	417	c.140 others(434): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(410): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTAATACATATATAACATATATGTATTACATATATGTAA TACATATATAACATGTATTACATATATGTATTACATATATGTAATACATA TATAACATGTATTACATATATGTATTACATATATAACATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	417	c.70 others(428): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTAATACATATATAACATATATGT ATTACATATATGTAATACATATATAACATGTATTACATATATGTATTACA TATATGTAATACATATATAACATGTATTACATATATGTATTACATATATA ACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(410): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0274 a0002c0003t0001g0274	1	360	0.0028	417	c.36 others(428): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(410): Show GGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGG GGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAA GAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	312	0.0032	417	c.53 others(428): Show c.5377_*5378insGAGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGG GAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGA GGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PKP3_chr11_389209_409908	401430	G G	GCCCCGCT others(410): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	216	0.0046	417	c.173 others(434): Show c.1737+728_1737+729insCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(410): Show GCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCG GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCCGGCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	216	0.0046	417	c.173 others(434): Show c.1737+856_1737+857insACCCGCCCCGCTCACACCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACA CCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCA CCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACACCC GGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2122247	G G	GTCATGGT others(410): Show GTCATGGTGGTAGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACGGCGATAGTTGGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTA GTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGCGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	286	0.0035	417	c.335 others(436): Show c.335-13014_335-13013insCATGGTGGTAGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCGATA GTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGC GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(410): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	227	0.0044	417	c.23 others(428): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(410): Show TATACACACACATATATATGTGTATATATATATACATACACATATATATG TGTATGTATATATATATATACACATATATATGTGTGTGTATATATATATA CACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGT ATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATAT ATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATAC ATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACAT ATATGTGTATATATATACACATATATGTATATATACACACACATATATGT GTATATATACACACACATATATGTGTGTACATATACACACACATATATGT GTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0053 a0001c0021t0001g0053	1	62	0.0161	417	c.89- others(436): Show c.89-107520_89-107519insGTGTATATATATACACACACATATAT GTGTGTGTATATGTACACACATATATGTGTGTGTATATATACACATATAT GTGTGTGTATATATACATATATGTGTATATATATACACATATATGTATAT ATACACACACATATATGTGTATATATACACACACATATATATGTATATAT ACACACACATATGTATATATACACACACACATATATGTATATATATACAC ACACATATATGTATATATATACACAAATATATGTATATATATACACACAC TATATATATGTGTATATATATATACACACACATATATATGTGTATATATA TATACACACACATATATATGTGTATATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993451	T T	TATACACA others(410): Show TATACACACACATATATATGTGTATATATATATACATACACATATATATG TGTATGTATATATATATATACACATATATATGTGTGTGTATATATATATA CACATATATATGTGTGTGTATATATATATACACATATATATAGTGTGTGT ATATATATACATATATTTGTGTATATATATACATATATGTGTGTGTATAT ATATACATATATGTGTGTGTGTATATATACATATGTGTGTGTATATATAC ATATATATGTGTGTGTATATATACACATATATGTGTGTGTATATATACAT ATATGTGTATATATATACACATATATGTATATATACACACACATATATGT GTATATATACACACACATATATGTGTGTATATATACACACACATATATGT GTGTGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 HG02280.hp1 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0003c0006 a0001c0007 a0003c0006	a0001c0007t0004 a0003c0006t0009 a0001c0007t0004 a0003c0006t0009	a0001c0007t0004g0062 a0003c0006t0009g0051 a0001c0007t0004g0062 a0003c0006t0009g0051	2	62	0.0323	417	c.89- others(436): Show c.89-107520_89-107519insGTGTATATATATACACACACATATAT GTGTGTGTATATATACACACATATATGTGTGTGTATATATACACATATAT GTGTGTGTATATATACATATATGTGTATATATATACACATATATGTATAT ATACACACACATATATGTGTATATATACACACACATATATATGTATATAT ACACACACATATGTATATATACACACACACATATATGTATATATATACAC ACACATATATGTATATATATACACAAATATATGTATATATATACACACAC TATATATATGTGTATATATATATACACACACATATATATGTGTATATATA TATACACACACATATATATGTGTATATATATATATACATACACATATATA TGTGTATGTATATATATATACACATATATATGTGTGTGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGAGG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	318	0.0031	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGAGGAGGGGAGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	318	0.0031	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGGAGG AGGGAGGAGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	318	0.0031	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	318	0.0031	417	c.36 others(428): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGA GGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGG AAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGA GGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGA GGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502371	A A	ATCCGGGA others(410): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGG GGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGTGGGTCAGCCCCC CACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCC GCCTGGCCAGCCACCCCG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0009 a0001c0015t0001g0009	1	204	0.0049	417	c.880 others(434): Show c.880-4843_880-4842insCGGGGTGGCTGGCCAGGCGGGGGGCTGA TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC CCACCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGC CTCCCTCCCGGACGGGGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGTGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGTGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF213_chr17_80255852_80403794	80274585	T T	TGTGGGGG others(410): Show TGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGA GGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTG GGGTGAGTGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02897.hp2 HG03486.hp2 others(1): Show HG02486.hp1 HG02897.hp2 HG03486.hp2 NA19240.hp2	a0017 a0018 a0093 a0017 a0018 a0093	a0017c0019 a0018c0033 a0093c0106 a0017c0019 a0018c0033 a0093c0106	a0017c0019t0024 a0018c0033t0016 a0093c0106t0018 a0017c0019t0024 a0018c0033t0016 a0093c0106t0018	a0017c0019t0024g0017 a0017c0019t0024g0034 a0018c0033t0016g0033 others(1): Show a0017c0019t0024g0017 a0017c0019t0024g0034 a0018c0033t0016g0033 a0093c0106t0018g0032	4	292	0.0137	417	c.261 others(434): Show c.261+1209_261+1210insAGTGAGTGGGGTGAGTGTGGAGGGTGAG TGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GTCGGGGGTGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGAC GAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGT GAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGG GGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGG GAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGT GACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGG GGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18979.hp2 HG01346.hp1 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0075 a0001c0004 a0001c0075	a0001c0004t0072 a0001c0075t0015 a0001c0004t0072 a0001c0075t0015	a0001c0004t0072g0164 a0001c0075t0015g0099 a0001c0004t0072g0164 a0001c0075t0015g0099	2	292	0.0069	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACAGAGG AAGAAGCGACGAAGAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAA GAAGTGGGGTGAACAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAA CGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGG CTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAA GAAGCGGGGTGACCGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGG GGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0082 a0082	a0082c0085 a0082c0085	a0082c0085t0006 a0082c0085t0006	a0082c0085t0006g0291 a0082c0085t0006g0291	1	292	0.0034	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAA GAAGCGGGGTGGACGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAA TGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGATGGGAATCGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355637	G G	GGGAAGAA others(410): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACGGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAAGAAGTGGGGT GACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAACAGGATTGGG GGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTACAGGGGG AAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGT GGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGACCGGGAATGGG AGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGCTCACGGAGGA AGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGGGTGACCG GGATTGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0006 a0025c0038t0006	a0025c0038t0006g0013 a0025c0038t0006g0013	1	292	0.0034	417	c.108 others(438): Show c.10862+1076_10862+1077insAATGGGAATGGGGGCTTACGGGGG AAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGAGGAAGAAGCGACGAA GAAGTGGGGTGACCGGGAATGGGGGCTCACAGGGGAAGAAGTGGGGTGAA CAGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTGAACGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGGGGAA GAAGCGGGGTGGACGGGAATGGGGGCTTACGGAGGAAGAAGCGGGGTGAC CGGGAATGGGAGCTTACAGGGGAAGAAGCGGGGTGAATGGGAATGGGGGC TCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGC GGGGTGACCGGGATTGGGGGCTTATGGAGGAAGAAGCGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7678876	T T	TATAAATA others(410): Show TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTT AGTTTATAAATACATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAATATATT TATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	308	0.0033	417	c.-75 others(436): Show c.-758+6953_-758+6954insCTATAAATTAAATATATAAATATATT TATCTATAAATTAAATATATAAATATATTTATCTATAAATTAAATATATA AATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAA ATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATAT AAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAAT ATGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATAAATATATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPH3AL_chr17_207389_357807	300642	A A	AAGGGGCT others(410): Show AAGGGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTCACCCGCTCTAGCAG GGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAGCAGGGG CTGGCCCATAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCC CAGCCTAGGCCCGCAGAATCTCTTACCCGCTCTAGCAGGGGCTGGCCCAG CCTAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCT AGGCCTGCAGAAGCTCTCACCCACTCTAGCAGGGGCTGCCACAGCCTAGG CCTGCAGAATCTCTCACCCACTCTAGCAGGGGCTGGCCCATAGGCCTGCA GAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAGCCTAGGCCCGCAGAA TCTCTTACCCGCTCTAGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	133	0.0075	417	c.351 others(436): Show c.351+18777_351+18778insGCTAGAGCGGGTAAGAGATTCTGCGG GCCTAGGCTGGGCCAGCCCCTGCTAGAGCGGGTGAGAGATTCTGCAGGCC TATGGGCCAGCCCCTGCTAGAGTGGGTGAGAGATTCTGCAGGCCTAGGCT GTGGCAGCCCCTGCTAGAGTGGGTGAGAGCTTCTGCAGGCCTAGGCTGGG CCAGCCCCTGCTAGAGCGGGTGAGAGATTCTGCAGGCCTAGGCTGGGCCA GCCCCTGCTAGAGCGGGTAAGAGATTCTGCGGGCCTAGGCTGGGCCAGCC CCTGCTAGAGCGGGTGAGAGATTCTGCAGGCCTATGGGCCAGCCCCTGCT AGAGTGGGTGAGAGATTCTGCAGGTCTAGGCTGGGCCAGCCCCTGCTAGA GCGGGTGAGAGATTCTGCAGGCCTAGGCTGGGCCAGCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80700730	A A	ATGATGGT others(410): Show ATGATGGTGATGGTGATGGTAGAGATGGTGATGGTGGTGATGATGATGGT CGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG TAGAGATGATGGTGATGGTGATGATGGAGGTGATGGTGGTGATGGTGATG GTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAGAGATGATGGTGAT GATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGATGATGGTGACGGTGATGGTAGAGATGATAGTGATAGTGGTG GTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGGTGATGGTGATGGT AGAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGA TGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01517.hp1 HG01074.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0023 a0001c0011t0047 a0001c0004t0023 a0001c0011t0047	a0001c0004t0023g0074 a0001c0011t0047g0076 a0001c0004t0023g0074 a0001c0011t0047g0076	2	196	0.0102	417	c.349 others(434): Show c.349-7103_349-7102insATGGTGATGGTAGAGATGGTGATGGTGG TGATGATGATGGTCGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTAGAGATGATGGTGATGGTGATGATGGAGGTGATGGT GGTGATGGTGATGGTGGTGGTGGTGGTGATGATGGTGATGGTGATGGTAG AGATGATGGTGATGATGGAGGTGGTGGTGATGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGGTGATGATGGTGACGGTGATGGTAGAGATGAT AGTGATAGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGATGG TGATGGTGATGGTAGAGATGGTGGTGGTGGTGGTGGTGATGATGGTGACG GTGATGGTAGAGATGATGGTGGTGGTGGTGGTGATGGTG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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