Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
ROCK2_chr2_11174759_11349636	11330945	G G	GGAGGAGG others(161): Show GGAGGAGGAGGGAGGATGGAGTAGGAGGGGGGAGGACGCAGTAGGAGGGG GGAGGAGGGGGGGAGGGAGGAGGGGGAGGAGGGAGTAGGAGGGGGGAGGA GGACGAGGGAGGAAGAGGAAAGAGGAGGGAGTAGGAGGGGAGGAGGAGGG AGGAGGAGGAGGAGTGGGA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0082 a0002c0002t0002g0082	1	320	0.0031	168	c.141 others(187): Show c.141+13050_141+13051insTCCCACTCCTCCTCCTCCTCCCTCCT CCTCCCCTCCTACTCCCTCCTCTTTCCTCTTCCTCCCTCGTCCTCCTCCC CCCTCCTACTCCCTCCTCCCCCTCCTCCCTCCCCCCCTCCTCCCCCCTCC TACTGCGTCCTCCCCCCTCCTACTCCATCCTCCCTCCTCCTC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPH3AL_chr17_207389_357807	272932	A A	ATCAGGGA others(161): Show ATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAG GGCGACATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCC AGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGA GACCCCGGCGAGGGTGACT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01255.hp1 others(3): Show HG00544.hp1 HG00544.hp2 HG01255.hp1 NA18612.hp1 NA18940.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0034 a0001c0004t0001 a0001c0004t0004	a0001c0001t0001g0024 a0001c0001t0001g0128 a0001c0001t0003g0081 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0128 a0001c0001t0003g0081 a0001c0001t0034g0018 a0001c0004t0001g0048 a0001c0004t0004g0014	6	133	0.0451	168	c.438 others(185): Show c.438+8835_438+8836insAGTCACCCTCGCCGGGGTCTCACCCTGA AGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCT CCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTCGCTGGG GTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272938	G G	GAGAGACC others(161): Show GAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCGAC ATCAGGAAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAG GGTGACGTCAGGGAGAGACCCCAGCGAGAGTGACTTCAGGGTGAGACCCC AGCGAGGGCGACATCAGGA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	133	0.0075	168	c.438 others(185): Show c.438+8829_438+8830insTCCTGATGTCGCCCTCGCTGGGGTCTCA CCCTGAAGTCACTCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGG GTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTTCCTGATGTCGCCCTC GCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	272995	T T	TGAGACCC others(161): Show TGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACG TCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAGG GCTACGTCAGGGTGAGACCCCAGCGAGGGCTACGTCAGGGAGAGACCCCA GCGAGGGCGACGTCAGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	133	0.0075	168	c.438 others(185): Show c.438+8772_438+8773insTTCCTGACGTCGCCCTCGCTGGGGTCTC TCCCTGACGTAGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGG GGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTCGCCCT CGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273068	C C	CGACGTCA others(161): Show CGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAG CAAGGGCTACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGAAGAGA CCCCAGCGAGGGTGACGTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGG GTGAGACCCCAGCGAGGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	133	0.0075	168	c.438 others(185): Show c.438+8699_438+8700insACCCTCGCTGGGGTCTCACCCTGACGTC GCCCTCGCTGGGGTCTCTCCCTGACGTCACCCTCGCTGGGGTCTCTTCCT GACGTCGCCCTCGCTGGGGTCTCTCCCTGACGTAGCCCTTGCTGGGGTCT CACCCTGACGTCACCCTCGCTGGGGTCTCTCCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273330	G G	GAGAGACC others(161): Show GAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGAT GTCAGGGAGAGACCCCAGCGAGGGCGACGTCAGGGAGAGACCCCAGCAAG GGCTACGTCAGGGTGAGACCCCAGCGAGGGCGACATCAGGAAGAGACCCC AGCAAGGGCGACGTCAGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	133	0.0075	168	c.438 others(185): Show c.438+8437_438+8438insTCCTGACGTCGCCCTTGCTGGGGTCTCT TCCTGATGTCGCCCTCGCTGGGGTCTCACCCTGACGTAGCCCTTGCTGGG GTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCTCCCTGACATCACCCTC GCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273464	G G	ATCAGGGA others(161): Show ATCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGGAGAGACCCCAGCAAG GGCGACATCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAGAGACCCC AGCGCGGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGA GACCCCAGCGAGGGCGACG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	133	0.0075	168	c.438 others(185): Show c.438+8304_438+8305insGTCGCCCTCGCTGGGGTCTCACCCTGAA GTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGGTCTCTC CCTGACGTCACCCTCGCTGGGGTCTCTCCCTGATGTCGCCCTTGCTGGGG TCTCTCCCTGACATCACCCTTGCTGGGGTCTCTCCCTGAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273544	T T	TGACGTCA others(161): Show TGACGTCAGGGTGAGACCCCAGCAAGGGCGACGTCAGGGAGAGACCCCAG CGAGAGTGACGTCAGGGTGAGACCCCAGCGAGGGCGACGTCAGGGAGAGA CCCCAGCGAGGGTGACGTCAGGGTGAGACCCCAGCGAGGGCTACGTCAGG GTGAGACCCCAGCGAGGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	133	0.0075	168	c.438 others(185): Show c.438+8223_438+8224insGCCCTCGCTGGGGTCTCACCCTGACGTA GCCCTCGCTGGGGTCTCACCCTGACGTCACCCTCGCTGGGGTCTCTCCCT GACGTCGCCCTCGCTGGGGTCTCACCCTGACGTCACTCTCGCTGGGGTCT CTCCCTGACGTCGCCCTTGCTGGGGTCTCACCCTGACGTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273575	C C	CGTCAGGG others(161): Show CGTCAGGGAGAGACCCCAGCAAGGGTGATGTCAGGAAGAGACCCCAGCGC GGGTGACTTCAGGGTGAGACCCCAGCGAGGGTGACTTCAGGGTGAGACCC CAGCGAGGGCGACGTCAGGGAGAGACCCCAGCGAGGGTGACGTCAGGGAG AGACCCCAGCAAGGGTGAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0018 a0001c0001t0034g0018	1	133	0.0075	168	c.438 others(185): Show c.438+8192_438+8193insATCACCCTTGCTGGGGTCTCTCCCTGAC GTCACCCTCGCTGGGGTCTCTCCCTGACGTCGCCCTCGCTGGGGTCTCAC CCTGAAGTCACCCTCGCTGGGGTCTCACCCTGAAGTCACCCGCGCTGGGG TCTCTTCCTGACATCACCCTTGCTGGGGTCTCTCCCTGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665501	T T	TCCTTTCC others(161): Show TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTTCATGTCCT TTCCTTTCCTTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0157 a0001c0097t0001g0157	1	196	0.0051	168	c.348 others(187): Show c.348+21693_348+21694insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTTCATGTCCTTTCCTTTCCTTTTCCTTTCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(161): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATATG TATATAAACACACATACGTGTATATGTTTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATACG TGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp2 HG01993.hp2 others(6): Show HG00597.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02273.hp2 NA18953.hp2 NA18990.hp1 NA19062.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0026 a0001c0001t0002 a0001c0001t0023 a0001c0001t0026	a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 others(6): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0023g0104 a0001c0001t0023g0106 a0001c0001t0026g0107	9	276	0.0326	168	c.494 others(187): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATATGTATATAAACACACATACGTGTATATGTTTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(161): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0034 a0001c0001t0009g0034	1	276	0.0036	168	c.494 others(187): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(161): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	276	0.0036	168	c.494 others(187): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTEL1_chr20_63653312_63701245	63693732	T T	TCCACCAC others(161): Show TCCACCACCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCTC CACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCT CCACCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCTCCACC ACCACCTCCTCCACCTCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	60	0.0167	168	c.299 others(185): Show c.2992+454_2992+455insACCACCTCCACCACCTCCACCACCACCA CCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCCACCTCC ACCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCTC CACCACCACCTCCACCACCACCTCCTCCACCTCCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RUFY1_chr5_179545554_179615012	179550515	C C	CCGCCCGC others(161): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGC CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGC CCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCC CGCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	376	0.0027	168	c.-55 others(175): Show c.-55_-54insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCAC CCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCAC CCCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCCCACCCCGCGCC CGCCCCCACCCCGCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		38		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550536	C C	CCGCCCGC others(161): Show CCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGC CCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCG CCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCCCACCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	376	0.0027	168	c.-34 others(175): Show c.-34_-33insCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCC CCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCA CCCCGCGCCCGCCCGCCCGCCCCCACCCCG	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		17		chr5	TogoVar
SAMD10_chr20_63969116_63984642	63970945	T T	TCCTTTTC others(161): Show TCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCTCCC TTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTCCCTTCTTCCTTCCTTTC CTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCTCTTCTCTTCCCTCCCTCC CTTCCTCCCTTCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	342	0.0029	168	c.45 others(179): Show c.4564_*4565insGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAAGAG AAGAGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAGAA GGGAGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAGGG AGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3170		chr20	TogoVar
SAMD11_chr1_918923_949574	934265	A A	AGGCGGCT others(161): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18969.hp1 NA19066.hp2 NA18948.hp1 NA18969.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0186 a0001c0001t0003g0021 a0001c0001t0003g0186	3	434	0.0069	168	c.843 others(185): Show c.843-1485_843-1484insGGGGGGGGCGGCTCCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934441	C C	GCGTTACA others(161): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0297 a0001c0002t0007g0297	1	434	0.0023	168	c.843 others(185): Show c.843-1332_843-1331insGCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934497	G G	GCGTTACA others(161): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	434	0.0023	168	c.843 others(185): Show c.843-1256_843-1255insAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934665	G G	GCGTTACA others(161): Show GCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGG GCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCA GGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0091 a0001c0023t0001g0091	1	434	0.0023	168	c.843 others(185): Show c.843-1093_843-1092insAGGGGGGGCGGCTGCGTTACAGGTGGGC AGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTACAG GTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTCCG TTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934689	G G	GGCTCCGT others(161): Show GGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	434	0.0023	168	c.843 others(185): Show c.843-1060_843-1059insGGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934736	G G	GGGGGGGG others(161): Show GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAG GTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCT GCTCCGTTACAGGTGGGCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	434	0.0023	168	c.843 others(185): Show c.843-1032_843-1031insGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCAGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934861	G G	GCGTTACA others(161): Show GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0297 a0001c0002t0007g0297	1	434	0.0023	168	c.843 others(183): Show c.843-892_843-891insGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SBF2_chr11_9773668_10299219	10249692	T T	TTTGGAAT others(161): Show TTTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGGGGAGTC CATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGCTATGGG GGAGTCCATAGCATTGGAATGCTATGGGGGAGTCCATAGCATTGGAATGC TATGGGGGAGTCCATAGCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01168.hp1 others(6): Show HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp1 HG02615.hp1 HG02683.hp2 HG03831.hp1 NA19002.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004	a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0154 others(6): Show a0001c0003t0001g0160 a0001c0003t0001g0165 a0001c0003t0002g0154 a0001c0003t0002g0164 a0001c0003t0002g0184 a0001c0003t0004g0155 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158	9	224	0.0402	168	c.55+ others(185): Show c.55+44155_55+44322dupTGCTATGGACTCCCCCATAGCATTCCAA TGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCCATAGCA TTCCAATGCTATGGACTCCCCCATAGCATTCCAATGCTATGGACTCCCCC ATAGCATTCCAATGCTATGGACTCCCCCATAGCATTCCAA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCGC others(161): Show GCCCTCGCCCTCGCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	168	c.48 others(179): Show c.4846_*4847insCCCTCGCCCTCGCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(161): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	390	0.0026	168	c.48 others(179): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(161): Show ATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAG TGCAGTATAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTG CAGTATAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	386	0.0026	168	c.21+ others(183): Show c.21+2356_21+2357insCACTGCACTGTTTATACTGCACTGTTTACA CTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTATACTGCACTGTTTATACTGCACTGTTTACACT GCACTGTTTATACTGCACTGTTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCIMP_chr17_5203920_5239860	5232378	A A	ATAAACAG others(161): Show ATAAACAGTGCAGTGTAAACAGTGCAGTGTAAACAGTGCAGTATAAACAG TGCAGTGTAAACAGTGCAGTATAAACAGTGCAGTATAAACAGTGCAGTGT AAACAGTGCAGTATAAACAGTGCAGTGTAAACAGTGCAGTATAAACAGTG CAGTGTAAACAGTGCAGTG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	386	0.0026	168	c.21+ others(183): Show c.21+2356_21+2357insCACTGCACTGTTTACACTGCACTGTTTATA CTGCACTGTTTACACTGCACTGTTTATACTGCACTGTTTACACTGCACTG TTTATACTGCACTGTTTATACTGCACTGTTTACACTGCACTGTTTATACT GCACTGTTTACACTGCACTGTTTACACTGCACTGTTTA	SCIMP	ENSG00000161929.15	transcript	ENST00000574081.6	protein_coding	1/4			chr17	TogoVar
SCLY_chr2_238056001_238104413	238098605	A A	AGGACCGC others(161): Show AGGACCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGACCGC CCACATGGGACCGCCCACATGGGACCGCCCACATAGAACCGTCCACATGG GACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAGGACCGCCC ACATGGGAACGCCCACATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0105 a0001c0001t0131g0105	1	392	0.0026	168	c.30 others(177): Show c.305_*306insGGGACCGCCCACATGGGACCGCCCACATAGAACCGT CCACATGGGACCGCCCACATGGGAACGCCCACATAGGACCGCCCACATAG GACCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGACCGCCC ACATGGGACCGCCCACATGGGACCGCCCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	306	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCNN1D_chr1_1275436_1297025	1288457	C C	CCGTGTCC others(161): Show CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0071 a0007c0006t0001g0071	1	290	0.0035	168	c.166 others(185): Show c.1662+421_1662+422insGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288627	C C	CCGTGTCT others(161): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	290	0.0035	168	c.166 others(185): Show c.1662+591_1662+592insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288742	T T	TGTCTCTG others(161): Show TGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	290	0.0035	168	c.166 others(185): Show c.1662+721_1662+722insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288881	T T	TCCGTCCC others(161): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	290	0.0035	168	c.166 others(185): Show c.1662+856_1662+857insTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCGTGT others(161): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0183 a0001c0047t0001g0183	1	290	0.0035	168	c.166 others(185): Show c.1663-959_1663-958insTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289433	C C	CCGTGTCT others(161): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	290	0.0035	168	c.166 others(185): Show c.1663-837_1663-836insGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289908	T T	TCCCCCGT others(161): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	290	0.0035	168	c.166 others(185): Show c.1663-360_1663-359insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(161): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01496.hp1 HG00544.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0200 a0001c0001t0001g0179 a0001c0001t0001g0200	2	324	0.0062	168	c.115 others(185): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3A_chr7_83950777_84199789	84086471	G G	GTATTATT others(161): Show GTATTATTATATTATATTTACATATAATATATTATTATATTATATTTACA TATAATATATTATTATATTATATTTACATATAATATATTATTATATTATA TTTACATATAATATATTATTATATTATATTTACATATAATATATTATTAT ATTATATTTACATATAATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02572.hp1 HG03942.hp2 HG01928.hp2 HG02572.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0025 a0001c0004t0031 a0001c0005t0004 a0001c0001t0025 a0001c0004t0031 a0001c0005t0004	a0001c0001t0025g0015 a0001c0004t0031g0126 a0001c0005t0004g0006 a0001c0001t0025g0015 a0001c0004t0031g0126 a0001c0005t0004g0006	3	276	0.0109	168	c.453 others(187): Show c.453+23998_453+23999insTATTATATGTAAATATAATATAATAA TATATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATA TAATAATATATTATATGTAAATATAATATAATAATATATTATATGTAAAT ATAATATAATAATATATTATATGTAAATATAATATAATAATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353319	G G	GAAGGAAA others(161): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGA AAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAA AGGAAAGGAAAGGGAAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0074 a0001c0003t0006g0074	1	134	0.0075	168	c.125 others(187): Show c.125-15508_125-15507insTCCTTCCCTTTCCTTTCCTTTCATTT CCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTC CTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353319	G G	GAAGGAAA others(161): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGA AAGGGAAGGGAAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAA AGGAAGGGAAGGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAA AGGGAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02486.hp1 HG02602.hp2 HG01123.hp2 HG02486.hp1 HG02602.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0019 a0001c0001 a0001c0003 a0004c0019	a0001c0001t0077 a0001c0003t0080 a0004c0019t0059 a0001c0001t0077 a0001c0003t0080 a0004c0019t0059	a0001c0001t0077g0101 a0001c0003t0080g0132 a0004c0019t0059g0089 a0001c0001t0077g0101 a0001c0003t0080g0132 a0004c0019t0059g0089	3	134	0.0224	168	c.125 others(187): Show c.125-15508_125-15507insTCCTTTCCTTTCCTTCCCTTTCCTTT CCTTTCATTTCCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTC CTTTCCTTTCCTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(161): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0018 a0001c0023t0018	a0001c0023t0018g0110 a0001c0023t0018g0110	1	134	0.0075	168	c.125 others(187): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(161): Show AAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGA AAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAA AGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0026 a0001c0002t0004g0026	1	134	0.0075	168	c.125 others(187): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(161): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGCAAAGGA AAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAA AGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0040 a0001c0002t0045g0040	1	134	0.0075	168	c.125 others(187): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(161): Show AAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCAAAGGA AAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAAATGAA AGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02683.hp1 HG02965.hp1 others(4): Show HG02486.hp2 HG02683.hp1 HG02965.hp1 HG02976.hp1 HG03225.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0022	a0001c0001t0081 a0001c0003t0072 a0001c0003t0079 others(4): Show a0001c0001t0081 a0001c0003t0072 a0001c0003t0079 a0001c0006t0043 a0001c0007t0012 a0001c0008t0004 a0001c0022t0055	a0001c0001t0081g0133 a0001c0003t0072g0124 a0001c0003t0079g0126 others(4): Show a0001c0001t0081g0133 a0001c0003t0072g0124 a0001c0003t0079g0126 a0001c0006t0043g0007 a0001c0007t0012g0064 a0001c0008t0004g0066 a0001c0022t0055g0081	7	134	0.0522	168	c.125 others(187): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(161): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03239.hp1 HG01069.hp2 HG01071.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0074	3	318	0.0094	168	c.240 others(185): Show c.2408+933_2408+934insCGTGTGTGAAGAGGGCGGCGCGGGTGAG CGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(161): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGTGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01361.hp1 others(9): Show HG00323.hp1 HG00733.hp1 HG01361.hp1 HG01975.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2	a0000 a0001 a0003 a0000 a0001 a0003	a0000c0023 a0001c0001 a0003c0009 a0000c0023 a0001c0001 a0003c0009	a0000c0023t0001 a0001c0001t0001 a0003c0009t0001 a0000c0023t0001 a0001c0001t0001 a0003c0009t0001	a0000c0023t0001g0051 a0001c0001t0001g0048 a0001c0001t0001g0049 others(9): Show a0000c0023t0001g0051 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0160 a0003c0009t0001g0053	12	318	0.0377	168	c.240 others(185): Show c.2408+933_2408+934insCGTGTGTGAAGAGGGCGGCGCGGGTGAG TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131779208	T T	TGTGTGTG others(161): Show TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGTGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGTGGGTGAGCGTGTGTGAA GAGGGCGGCGCGGGTGAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0052 a0003c0009t0001g0052	1	318	0.0031	168	c.240 others(185): Show c.2408+933_2408+934insCGTGTGTGAAGAGGGCGGCGCGGGTGAG TGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGTG GGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAGCGTGTGTGAAGAGGGC GGCGCGGGTGAGCGTGTGTGAAGAGGGCGGCGCGGGTGAG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(161): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGG CTGCCCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCT GCCCCTGCGAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	360	0.0028	168	c.43 others(179): Show c.4386_*4387insGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGG CAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTGGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214456	C C	CCCTGCCA others(161): Show CCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCTT CTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTTCT GCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCTTCTGC CAACAGGCACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	360	0.0028	168	c.43 others(179): Show c.4354_*4355insAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGG TGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTG CCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCGGTGCC TGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3687		chr2	TogoVar

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