Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(667): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACACCACACATACACCACACACCTCACACA CATCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCA ACATACCACACACCAGAGACACACACGACACACCACACACAGACCACACA CACCACACACACCACACACACACCCCACACACCACAAACACCCCACACAC TCCACACACTGCACACACCGCACACGCCGCACATGCCACACACACCACAC ACCACACACACACCACACTGCACACACTGCACACACCACACACCCCACAT ACCACATTCACACACCACACACCACACATACCACATTCACACACCACACA TACCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCA CACACACCCCACACACCACACACAGTGCACAAACCACACACCACACACAC ACCACACCACACCCCCCACACATAACCATACACAGACCACACATACACAC ACCACACACCACACATACCACACACACCAGATACACACACACCACATACC ACACACACACAAACCACACAACACACACACACATACACACCACAAGCACA CCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(172): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18976.hp2 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18994.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0002c0005 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0003t0001 a0001c0004t0002 a0001c0010t0002 a0002c0005t0002 a0005c0011t0002	a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0026 others(63): Show a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0036 a0001c0001t0003g0043 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0119 a0001c0001t0003g0134 a0001c0001t0003g0139 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0154 a0001c0001t0003g0165 a0001c0001t0005g0017 a0001c0001t0005g0030 a0001c0001t0005g0067 a0001c0001t0005g0069 a0001c0001t0005g0071 a0001c0001t0013g0168 a0001c0003t0001g0101 a0001c0004t0002g0016 a0001c0010t0002g0059 a0002c0005t0002g0032 a0005c0011t0002g0075	175	178	0.9831	674	c.41 others(685): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTGGTG TGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGT GTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGT GTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGG GTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTC TGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTG TGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGG TGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGT GCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(667): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACACCACACATACACCACACACCTCACACA CATCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCA ACATACCACACACCAGAGACACACACGACACACCACACACAGACCACACA CACCACACACACCACACACACACCCCACACACCACAAACACCCCACACAC TCCACACACTGCACACACCGCACACGCCGCACATGCCACACACACCACAC ACCACACACACACCACACTGCACACACTGCACACACCACACACCCCACAT ACCACATTCACACACCACACACCACACATACCACATTCACACACCACACA TACCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCA CACACACCCCACACACCACACACAGTGCACAAACCACACACCACACACAC ACCACACCACACCCCCCACACATAACCATACACAGACCACACATACACAC ACCACACACCACACATACCGCACACACCAGATACACACACACCACATACC ACACACACACAAACCACACAACACACACACACATACACACCACAAGCACA CCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	4	0.2500	674	c.41 others(685): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGCGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTGGTG TGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGT GTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGT GTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGG GTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTC TGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTG TGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGG TGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGT GCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(667): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACACCACACATACACCACACACCTCACACA CATCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCA ACATACCACACACCAGAGACACACACGACACACCACACACAGACCACACA CACCACACACACCACACACACACCCCACACACCACAAACACCCCACACAC TCCACACACTGCACACACCGCACACGCTGCACATGCCACACACACCACAC ACCACACACACACCACACTGCACACACTGCACACACCACACACCCCACAT ACCACATTCACACACCACACACCACACATACCACATTCACACACCACACA TACCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCA CACACACCCCACACACCACACACAGTGCACAAACCACACACCACACACAC ACCACACCACACCCCCCACACATAACCATACACAGACCACACATACACAC ACCACACACCACACATACCACACACACCAGATACACACACACCACATACC ACACACACACAAACCACACAACACACACACACATACACACCACAAGCACA CCACACACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	4	0.2500	674	c.41 others(685): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATGTGG TGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGTATG TGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGTGTG GTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGTGTA CAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTGGTG TGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGT GTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGT GTGTGGCATGTGCAGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGG GTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTC TGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTG TGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGG TGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGT GCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
KIAA0232_chr4_6777727_6889164	6879936	C C	CAGGTCTG others(667): Show CAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCC TTCCCAACACACAGGTCTGCAGTGCCCCCCCTCACCATCTGTACTGTGTC ACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGTCCCCTCACCATC TGTACTGTGTCACTGCAAACTCCCTTCCCAACACACCCGTCTGCAGTGCC CCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAG GTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTC CCAACACAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGC AAACTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTAC TGTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTC ACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGT AGTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACA CAGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTC CCTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTC ACTGCAAACTCCCTTCCCAACACAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	357	0.0028	674	c.400 others(691): Show c.4009-851_4009-850insAGGTCTGCAGTGTCCCCTCACCATCTGT ACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGCAGTGCCCCC CCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGT CTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCC AACACACCCGTCTGCAGTGCCCCCCTCACCATCTGTACTGTGTCACTGCA AACTCCCTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACT GTGTCACTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCA CCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTA GTGTCGCCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACAC AGAGGTCTGCAGTGTCCCCTCACCATCTGTACTGTGTCACTGCAAACTCC CTTCCCAACACACAGGTCTGTAGTGTCGCCTCACCATCTGTACTGTGTCA CTGCAAACTCCCTTCCCAACACAGAGGTCTGCAGTGTCCCCTCACCATCT GTACTGTGTCACTGCAAACTCCCTTCCCAACACACAGGTCTGTAGTGTCG CCTCACCATCTGTACTGTGTCACTGCAAACTCCCTTCCCAACACAG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	9/9			chr4	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(667): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	11	0.0909	674	c.52 others(685): Show c.5260_*5261insTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGCTG GAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTTC AAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCAT GTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCCG TTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAGC CTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGAG TTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAACT GAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCACT TATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGTA TAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATCC AGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACTG TCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGAT CATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(667): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01081.hp1 HG01981.hp1 others(3): Show HG00423.hp2 HG01081.hp1 HG01981.hp1 NA18964.hp1 NA19057.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0118 a0001c0001t0005g0041 a0001c0001t0005g0097	6	16	0.3750	674	c.52 others(685): Show c.5260_*5261insTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGCT GGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTT CAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCA TGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCC GTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAG CCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGA GTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAAC TGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCAC TTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGT ATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATC CAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACT GTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGA TCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(667): Show CAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGCT CCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGATG GAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTAA AATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACAA TTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGTT TTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAATT CCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTGA GAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCAG TGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATCA TCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCGT CTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGTA ATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAAG GTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGCA AGGCTCTGTCTAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	11	0.0909	674	c.52 others(685): Show c.5260_*5261insTTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGC TGGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGT TCAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGC ATGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACC CGTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCA GCCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAG AGTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAA CTGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCA CTTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATG TATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCAT CCAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATAC TGTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTG ATCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		1059		chrX	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(667): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCA AACACACATACATCTCCAAACACACACACACCTAACACACGCACCTAACA CACACTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACAC ACACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACA CACACCTCTCCAAAAACACACACACACAACACACACCTCCTTCAAACACA CACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACACA CACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAACACA CACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	4	0.2500	674	c.212 others(693): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACAC ACACACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACA CACGCACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACA CACACACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCCAAACACACACACACCTAACACACACCT CCTTCAAACACACACACACCTCCAAACACACACACCTAACACACACCTCC TTCAAACACACACACACCTCTCCAAACACACACACACACCTAACACACCC CCCTTCAAACACACACACCTCTCCAAAAACACACACACACAACACACACC TCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACCCC TCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACACACAC CTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACACACAC CTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGR6_chr1_202188799_202324761	202204775	C C	CACACACA others(667): Show CACACACACACCTCCAAACACACACACACCCCTAACACACACCTCCTCCA AACACAAACCTCCAAACACACACACACCTCCAAACACACACCTAACACAC ACCTCCTCCAAACACACACACACTTCCAAACACACACACACCTCCAAACA CACATACATCTCCAAACACACACACACCTAACACACGCACCTAACACACA CTTCCTTCAAACACACACACCTCCAAAGACACACACACACCTAACACACA CCTCCTTCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAC ACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACACAC ACCTCTCCAAACACACACACACACCTAACACACCCCCCTTCAAACACACA CACCTCTCCAAAAACACACACACACCTAACACACACCTCCTTCAAACACA CACACACCTCCAAACACAAACACACCTAACACACCCCTCCTTCAAACACA CACACCTCAAAACACACACACCTCAAAACACACACACCTCCAAAAACACA CACATACCTAACACACACCTCCTTCAAACACACACACCTCCAAACACACA CACACCTAACACACACCTCTTTCAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG03195.hp2 HG01891.hp2 HG02976.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0131 a0001c0001t0001g0132 a0002c0002t0003g0097 a0001c0001t0001g0131 a0001c0001t0001g0132 a0002c0002t0003g0097	3	6	0.5000	674	c.212 others(693): Show c.212+10584_212+10585insCTCCAAACACACACACACCCCTAACA CACACCTCCTCCAAACACAAACCTCCAAACACACACACACCTCCAAACAC ACACCTAACACACACCTCCTCCAAACACACACACACTTCCAAACACACAC ACACCTCCAAACACACATACATCTCCAAACACACACACACCTAACACACG CACCTAACACACACTTCCTTCAAACACACACACCTCCAAAGACACACACA CACCTAACACACACCTCCTTCAAACACACACACCTAACACACACCTCCTT CAAACACACACACACACCTCCAAACACACACACACCTAACACACACCTCC TTCAAACACACACACACCTCCAAACACACACACCTAACACACACCTCCTT CAAACACACACACACCTCTCCAAACACACACACACACCTAACACACCCCC CTTCAAACACACACACCTCTCCAAAAACACACACACACCTAACACACACC TCCTTCAAACACACACACACCTCCAAACACAAACACACCTAACACACCCC TCCTTCAAACACACACACCTCAAAACACACACACCTCAAAACACACACAC CTCCAAAAACACACACATACCTAACACACACCTCCTTCAAACACACACAC CTCCAAACACACACACACCTAACACACACCTCTTTCAAACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATAATAT others(667): Show TATAATATATTATATATTATATATTATATATATAATATATTATATATTAT ATATTATATATATATTATATTATATATTATATATAATTATATATATTTTA TATATTATATATTATATATTATATATTATATATTATATATATTATATATT ATATATTATATATTTATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATAATATATATAATATATTATATATAATATATAATATATAATATATATAA TATATTATATATAATATATAATATATATTATATATATAATATATTATATA ATATATTATATATATAATATATATTATATATTATATACAATATATTATAT ATTATATACATTATATATTATATAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	61	0.0164	674	c.683 others(693): Show c.683-81886_683-81885insAATATATTATATATTATATATTATAT ATATAATATATTATATATTATATATTATATATATATTATATTATATATTA TATATAATTATATATATTTTATATATTATATATTATATATTATATATTAT ATATTATATATATTATATATTATATATTATATATTTATATTATATATATT ATATATTATATATACAATTATATATATTATATATATTATATATTATATAA TATATTATATATATAATATATATTATATATTATATATTATATAATATATT ATATATATAATATATTATATATTATATATTATATAATATATTATATATTA TATATATTATATATTATATATTATATATTATATATATAATATATATTATA TATTATATATTATATATATTATATATATTATATATATTATATATAATATA TATAATTGTATATATAATATATAATATATAATATATATAATATATAATAT ATAATATATAATATATAATATATAATATATATAATATATTATATATAATA TATAATATATAATATATATAATATATTATATATAATATATAATATATATT ATATATATAATATATTATATAATATATTATATATATAATATATATTATAT ATTATATACAATATATTATATATTATATACATTATATATTATATACAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(667): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	188	0.0053	674	c.153 others(693): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGT CCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(667): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCACGGGAGGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18947.hp1 NA18982.hp2 others(1): Show HG03688.hp2 NA18947.hp1 NA18982.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 a0001c0003 a0001c0004 a0001c0008	a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001	a0001c0003t0001g0133 a0001c0004t0001g0067 a0001c0008t0001g0023 others(1): Show a0001c0003t0001g0133 a0001c0004t0001g0067 a0001c0008t0001g0023 a0001c0008t0001g0055	4	191	0.0209	674	c.153 others(693): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(667): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGA CGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	188	0.0053	674	c.153 others(693): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGT CCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG TGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(667): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGCGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	188	0.0053	674	c.153 others(693): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACC ACGCACACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGT CCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859664	C C	CGGGTGTG others(667): Show CGGGTGTGAGTCGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTG ATGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGA CGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGG TGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCG AGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTG GTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTC GGGACGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0141 a0002c0007t0001g0141	1	188	0.0053	674	c.153 others(693): Show c.1530-4959_1530-4958insATCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTCACACCCACCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACC ACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGT CCCGTGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCG AGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGA CACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGTGACACGACTCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859736	C C	CGGGTGTG others(667): Show CGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTG TGAGTGATGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGG TGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTC ACGGGACGGGTGCGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGG GACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACG GGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTG TGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGATGGGTGTGAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTC TCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGG GGTGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGG TGGGTGTGCAGTGGTGTCTCGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0007 a0005c0025t0007	a0005c0025t0007g0259 a0005c0025t0007g0259	1	32	0.0313	674	c.153 others(693): Show c.1530-5031_1530-5030insACCCCGAGACACCACTGCACACCCAC CCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCACCC CGAGACACCACTCACACCCACCCCGAGACACCACTCACACCCACCCCGAG ACACCACTCACACCCACCCCGTGACACCACTCACACCCATCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCAC ACCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCC GTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCC CGAGACACCACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCGTG ACACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACAC CACTCGCACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGTGACATCACTCACACCCGTCCCGAGACATCACTCAC ACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTGCACACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	859907	G G	GAGTGGTG others(667): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGACTCGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGAC GGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTTTCGAGACGGGTGTG CAGTGATGTCTCGGGACGGGTGTGCACTGATGTCACGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGG TGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTC ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGATGGGTGTGACTGGTGTCTCGGGACGGTTG TGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	277	0.0036	674	c.153 others(693): Show c.1530-5202_1530-5201insACACCCGTCCCGAGACACCACTGCAC AACCGTCCCGAGACACCAGTCACACCCATCCCGAGACACCACTGCACACC CGTCCCGAGACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACATCAGTGCACACCCGTCCCGAGACATCACTGC ACACCCGTCTCGAAACACCACTCACACCCGTCCCGTGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGTCACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACA CCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCCTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0289 a0003c0004t0007g0289	1	194	0.0052	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAGGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	194	0.0052	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTAACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	194	0.0052	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCCAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTTACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG02080.hp2 HG02738.hp1 others(12): Show HG01175.hp2 HG02080.hp2 HG02738.hp1 HG04228.hp1 NA18940.hp2 NA18952.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18988.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19087.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0009 a0002c0002 a0004c0009	a0002c0002t0002 a0004c0009t0008 a0002c0002t0002 a0004c0009t0008	a0002c0002t0002g0007 a0002c0002t0002g0098 a0002c0002t0002g0130 others(12): Show a0002c0002t0002g0007 a0002c0002t0002g0098 a0002c0002t0002g0130 a0002c0002t0002g0142 a0002c0002t0002g0181 a0002c0002t0002g0188 a0002c0002t0002g0200 a0002c0002t0002g0239 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0285 a0002c0002t0002g0299 a0002c0002t0002g0332 a0002c0002t0002g0390 a0004c0009t0008g0024	15	208	0.0721	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGAC AAAAGTACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01070.hp1 others(14): Show HG00558.hp2 HG00609.hp2 HG01070.hp1 HG01071.hp1 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 NA18747.hp1 NA18939.hp2 NA18942.hp1 NA18979.hp2 NA18990.hp2 NA19002.hp1 NA19011.hp2 NA19079.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0002t0008 a0002c0003t0002 a0002c0002t0002 a0002c0002t0008 a0002c0003t0002	a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0018 others(10): Show a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0099 a0002c0002t0002g0107 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0180 a0002c0002t0002g0216 a0002c0002t0002g0259 a0002c0002t0002g0292 a0002c0002t0008g0061 a0002c0003t0002g0013	17	210	0.0810	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(667): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCATGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTT GTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCT TCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03540.hp2 HG03195.hp1 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0209 a0003c0004t0007g0410 a0003c0004t0007g0209 a0003c0004t0007g0410	2	195	0.0103	674	c.56 others(685): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGT CTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTG AAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTAT TTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCC TGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGG CCGGGCGTGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGG CAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTG GCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGAGGG others(667): Show GGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGGGAGGGGGGG AGGGGGAGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGAG GGGGGGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGAGAGAGGGGGGAGAGGGGGAGAGAGGGGAGAGGGGGAGA GAGGGGGGAGGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGGGGAGAGG GGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGA GAGGGGGGAGAGAGGGGGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAGAG AGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGGGGGGAGGGGGGGAGAGAGGGGGAGAGAGGGGGAGAGAGG GGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0113 a0001c0007t0001g0113	1	12	0.0833	674	c.525 others(691): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCCCCCTCTCTCCCCCTCTCTCCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCCCCCCTCTC TCCCCCCTCTCCCCCTCTCTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCC CCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCT CCCCCTCTCCCCTCTCTCCCCCTCTCCCCCCTCTCTCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCC TCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCT CCCCCCCCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCCCCCCCTC TCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCCCCCCCTCTCCCCCTCCC CCCCTCCCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCCCTCCC CCCTCTCCCCCTCTCCCCCCTCCCCCCTCCCCCTCTCCCCCCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MED27_chr9_131855112_132084867	131964326	G G	GTGGTGCT others(667): Show GTGGTGCTGGTGATGGTGGTGGTGATGGTGGTGGGGGGTGGTGGTGGGGA TGGAGGTGGTGATGGTGATGGTGGTGGTGGAGGTGCTGGTGGTAGAGGTT ATGGTGGTGGTGGTGATGGTGGGGGTGGAGGTGGTGATAGTGGTGGTGGG GGTGGAGATGGTGATGGTAGTGGTGATGGTAGAGGTTATGGTGGTGGTGG TGATGGTGTTGGTAGAGGTGATGGTGATAGAGGTGATGGTGATGGTGGTG GTGGGGGTGATGGTGACAGGAGGTGGTGGCGATGATGGAAATGATGGTGG TAGTGAAGGTGATGGTGGTGGTGGTGATGGTAGTCGAGGTGATGGTGGTA GTGATGGTGGTGGTGGTGGAGGTGATGGTAGTGGAGGTGATGGTGGTGGA GATGATCATGATGGTGGTGGTGGTGATGGTGGAGGGTGTGGTGGTAGTGA AGGTGATGGTGGTGGTGGTAGAGGTGATGGTAATGGTGGAGGTGATGGTG GTGATGGTGGTAGTGAAAGTGATGGTGGTGATGGTGGAGGGTGTGGTGGT AGTGAAGGTGATGGTGGTGGTGGTAGAGGTGATGGTAGAGGTGATGGTAA TGGTGGAGGTGATGGTGGTGATGATGGTGGTAGTGAAAGTGATGGTGGTG ATGGTTGAGGGTGTGGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	109	0.0092	674	c.480 others(693): Show c.480-24853_480-24852insTCACTACCACCACACCCTCAACCATC ACCACCATCACTTTCACTACCACCATCATCACCACCATCACCTCCACCAT TACCATCACCTCTACCATCACCTCTACCACCACCACCATCACCTTCACTA CCACCACACCCTCCACCATCACCACCATCACTTTCACTACCACCATCACC ACCATCACCTCCACCATTACCATCACCTCTACCACCACCACCATCACCTT CACTACCACCACACCCTCCACCATCACCACCACCACCATCATGATCATCT CCACCACCATCACCTCCACTACCATCACCTCCACCACCACCACCATCACT ACCACCATCACCTCGACTACCATCACCACCACCACCATCACCTTCACTAC CACCATCATTTCCATCATCGCCACCACCTCCTGTCACCATCACCCCCACC ACCACCATCACCATCACCTCTATCACCATCACCTCTACCAACACCATCAC CACCACCACCATAACCTCTACCATCACCACTACCATCACCATCTCCACCC CCACCACCACTATCACCACCTCCACCCCCACCATCACCACCACCACCATA ACCTCTACCACCAGCACCTCCACCACCACCATCACCATCACCACCTCCAT CCCCACCACCACCCCCCACCACCATCACCACCACCATCACCAGCACCA	MED27	ENSG00000160563.14	transcript	ENST00000292035.10	protein_coding	3/7			chr9	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGAGGG others(667): Show AAGGAGGGGGAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGG CGGAAAGGGGAGGGGGAGAAGGGGGAGGGGGCAGGGGGAGGGGGGAAAAG GGGCGGGGGAAGGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGG GGGGAAGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAG GGGGGAGGGGAGGATGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG GGGGGAGGGGGGAGGGGGGGGGGAGGGAGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGGGAGGGGGGGAGGGGAG GGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGGGGGGAGGAGGGGAGGGGGAGGGGAGGGAAGGGAGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAG GGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGA GGGAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0176 a0002c0002t0004g0176	1	8	0.1250	674	c.250 others(689): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTC CCTCCCTTCCCTCCCCTCCCCCTCCCCTCCTCCCCCCCCCCTCCCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCTCCCCCCCCCCTCCCCCCTCCCCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCATCCTCCCCTCCCCCCTTTC CCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCTTCCCCCCACC CCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCCTTCCCCCGCCCCTTTT CCCCCCTCCCCCTGCCCCCTCCCCCTTCTCCCCCTCCCCTTTCCGCCTTC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTCCCCCTCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(667): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCTCCCGTCTCCCCTCCC GTCTCCCTCCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCATCCCCTC CTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	4	0.2500	674	c.114 others(693): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCTCCCGTCTCCCCTCCCGTCTCCCTCCCCGTCTCCCCTCCTCCCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCC TCCCCTCCCCTCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(667): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTAC CCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	246	0.0041	674	c.-8+ others(687): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(667): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGGCTGGG AAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0009 a0009	a0009c0098 a0009c0098	a0009c0098t0001 a0009c0098t0001	a0009c0098t0001g0013 a0009c0098t0001g0013	1	130	0.0077	674	c.148 others(693): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCCT CCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTA GCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCT TCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTC CACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCT TCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(667): Show TAGTAACTATATTAATAGTTAGTATATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	276	0.0036	674	c.195 others(691): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(667): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0280 a0002c0002t0020g0280	1	276	0.0036	674	c.195 others(691): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATTAA TATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTA TATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATA TAGTTACTATATATTAATATATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
PCID2_chr13_113172536_113213669	113176446	A A	ACCCGACA others(667): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGA ACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGT CACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTG TGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACC CAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGC CTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGC ACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTG TAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTT TGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0170 a0001c0001t0005g0170	1	320	0.0031	674	c.17 others(685): Show c.1751_*1752insGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGA CAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTT CTGTCGGGGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGGGTGACAGG CATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGT CGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATG TGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG GCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGACAGGCATGTGC CACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGGGCA ATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGACAGGCATGTGCCAC CACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGGGCAATT CCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATGTGCCACCACA CCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1089		chr13	TogoVar
PCID2_chr13_113172536_113213669	113176446	A A	ACCCGACA others(667): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGA ACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGTGTGGTGGCACATGCCTGT CACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTG TGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACC CAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGC CTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGC ACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTG TAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTT TGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp2 others(87): Show HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0006t0001 a0001c0001t0001 a0001c0001t0005 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 others(38): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0005g0159 a0001c0001t0005g0164 a0001c0001t0005g0174 a0001c0006t0001g0169	90	409	0.2200	674	c.17 others(685): Show c.1751_*1752insGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGA CAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTT CTGTCGGGGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGGGTGACAGG CATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGT CGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATG TGCCACCACACCCAGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG GCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGACAGGCATGTGC CACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGGGCA ATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGACAGGCATGTGCCAC CACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGGGCAATT CCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATGTGCCACCACA CCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1089		chr13	TogoVar
PGAP6_chr16_365788_386978	370388	C C	CCCCTACC others(667): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTAC CCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0149 a0002c0009t0001g0149	1	226	0.0044	674	c.15 others(685): Show c.1598_*1599insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGT GAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		399		chr16	TogoVar
PRDM16_chr1_3064203_3443621	3181067	C C	CGGTCTTA others(667): Show CGGTCTTACACACACAGTCTTACGGTCTTACACACGGTCTTACACACGCA GTCTTACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACG GCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGCCTTACGCATG GTCTTACACACGCAGTCTTACACACGGTCTTACACACGCAATCTTACACA AGCAGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTA CGGTCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACA CGCAGTCTTACACACGCAGTCTTACACACGCGGTCTTACACAAGCAGTCT TACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACA CGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTA CACACGGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACA TATGGTCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTA CACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACA CACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACA CACGGAGTCTTACACACGGAGTCTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	208	0.0048	674	c.38- others(689): Show c.38-5058_38-5057insGGTCTTACACACACAGTCTTACGGTCTTAC ACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACAGTCTTAC ACACGCAGTCTTACACACGGCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTT ACACACGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGG TCTTACACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTC TTACACACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGC GGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCC TTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGC GGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAG TCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGG TCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTC TTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAG TCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PROZ_chr13_113153648_113177386	113176446	A A	ACCCGACA others(667): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGA ACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGT CACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTG TGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACC CAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGC CTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGC ACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTG TAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTT TGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	289	0.0035	674	c.43 others(685): Show c.4341_*4342insCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGA GCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGG CGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCG GGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGG GGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGT GTGGTGGCACATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGG AATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTG GTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATT GCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGG CACATGCCTGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCC CGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACA TGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4061		chr13	TogoVar
PROZ_chr13_113153648_113177386	113176446	A A	ACCCGACA others(667): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGA ACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGTGTGGTGGCACATGCCTGT CACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTG TGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACC CAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGC CTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGC ACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTG TAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTT TGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00558.hp1 others(82): Show HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0011 a0001c0012 others(2): Show a0001c0001 a0001c0011 a0001c0012 a0002c0003 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0011t0002 a0001c0012t0002 a0002c0003t0001 a0005c0009t0002	a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0001g0103 others(58): Show a0001c0001t0001g0033 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0006g0260 a0001c0011t0002g0182 a0001c0012t0002g0235 a0002c0003t0001g0019 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0111 a0005c0009t0002g0261	85	373	0.2279	674	c.43 others(685): Show c.4341_*4342insCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGA GCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGG CGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCG GGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGG GGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGT GTGGTGGCACATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGG AATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGTGTG GTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATT GCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGG CACATGCCTGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCC CGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACA TGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCC TGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4061		chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(667): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGGAGGAGGGGGCCA CATGGGGAGGAGGCGGGCCGCGAGGGGGAGGAGGGGGCCGCGTGGGGAGG AGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTT GGGGAGGAGGGGGGCCGCGAGGGGGAGTGAGGGAGCCGCGTGGGGGAGGA GGGGGGCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAG GAGAGGAGGGGGGGGGGGCCCCGTGGGGAGGAGGGGGAAGGCGTGGGGAG GAGGGGGGGGCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGT GTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGGCCGCGTGGGGAGGAGGGGGGCCGTGTGGGGGAGGAGAGGGCCGC GTGGGGAGGAGGGGGCCGCGTGGGGGAGGAGGCGCCGTGTTGGGGAGGAG GGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTG GGGGGAGGAGGGGGCCGCTGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGG GGGGGCCGCGTGGGGGAGGAGGGGGGGCCGCGTGGGGAGGAAGGGGCCCG TCTTGGGGAGGAGGGGGCCCGGCGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	3	0.3333	674	c.159 others(691): Show c.1590+407_1590+408insGCGCCGGGCCCCCTCCTCCCCAAGACGG GCCCCTTCCTCCCCACGCGGCCCCCCCTCCTCCCCCACGCGGCCCCCCCC TCCTCCCCACACGGCGCCTCCTCCCCACAGCGGCCCCCTCCTCCCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTC CTCCCCAACACGGCGCCTCCTCCCCCACGCGGCCCCCTCCTCCCCACGCG GCCCTCTCCTCCCCCACACGGCCCCCCTCCTCCCCACGCGGCCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACACACG GCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGCCCCCCCCTCCTC CCCACGCCTTCCCCCTCCTCCCCACGGGGCCCCCCCCCCCTCCTCTCCTC ACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCCTCC TCCCCCACGCGGCTCCCTCACTCCCCCTCGCGGCCCCCCTCCTCCCCAAG CCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCT CCCCACGCGGCCCCCTCCTCCCCCTCGCGGCCCGCCTCCTCCCCATGTGG CCCCCTCCTCCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(667): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCC GCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGA GGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGG GCCGCGAGGGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	3	0.3333	674	c.159 others(691): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCT CCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCC CCCTCCTCCCCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTC GCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCC TCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGC GCCTCCTCCCCACACGCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCAC GCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCC TCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGC CCCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCC AAGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCT CCTCCCCACGTGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCG GCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RND2_chr17_43020231_43037041	43024257	A A	AATCTCGG others(667): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTGGTTT GATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCTCTATC GCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG03041.hp1 HG02451.hp2 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0003 a0001c0001t0001g0001 a0001c0001t0006g0003	3	157	0.0191	674	c.-10 others(685): Show c.-1091_-1090insATCTCGGCTCACTGCCACCTCCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACG CGCCACCACGCCCGGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCC CCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGC CAAAAAAAGCACTTTTAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGT CAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCGTCTCTACTA AAAATACAAAAATTAGCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTT GCAGTGCGCTGAGATCGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGA GACTCCGCCTCAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAAT ACGTATCAGTGGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACG GAGTATTGCTCTATCGCCCAGGCTGAAGTGCAGTGGCACG	RND2	ENSG00000108830.11	transcript	ENST00000587250.4	protein_coding		973		chr17	TogoVar
RPTOR_chr17_80539838_80971368	80876445	C C	CCCACCGA others(667): Show CCCACCGAGGCTGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTC CACCAAGCCCCTCCGCCCAGGATGTGTGTGTCGCCTGCTGGGTCTTCACA CCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACC AAGCCCCTCCGCCCAGGATGTGTGTGTCGCCTGCCGGGTCTTCCACCGAG CCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACCGAGCC CGTGCCACACAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACCGAGCCCG TGCCACACAGGGTGTGTGTGTCGCCTGCTGGGTTTTCCACCGAGCCTGTG CCATGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCCACCGAGCCCGTGC CACTCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACCGAGCCCGTGCCA CGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACCGAGCCCGTGCCACG CAGGGTGTGTGTGTCGCCTGCCATGTCTTCCCACCGAGCCCGTGCCACGC AGGGTGTGTGTGTCGCCTGCTGGGTCTTCCACCGAGCCCGTGCCACGCAG GGTGTGTGTGTCGCCTGCTGGGTCTTCACACCGAGCCCGTGCCACGCAGG GTGTGTGTGTCGCCTGCCGGGTCTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0070 a0001c0093t0070	a0001c0093t0070g0157 a0001c0093t0070g0157	1	194	0.0052	674	c.151 others(693): Show c.1510-3962_1510-3961insGCTGTGCCACGCAGGGTGTGTGTGTC GCCTGCCGGGTCTTCCACCAAGCCCCTCCGCCCAGGATGTGTGTGTCGCC TGCTGGGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCT GCCGGGTCTTCCACCAAGCCCCTCCGCCCAGGATGTGTGTGTCGCCTGCC GGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGG GTCTTCCACCGAGCCCGTGCCACACAGGGTGTGTGTGTCGCCTGCCGGGT CTTCCACCGAGCCCGTGCCACACAGGGTGTGTGTGTCGCCTGCTGGGTTT TCCACCGAGCCTGTGCCATGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTC CCACCGAGCCCGTGCCACTCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCC ACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCAC CGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCATGTCTTCCCACC GAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCTGGGTCTTCCACCGA GCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCTGGGTCTTCACACCGAG CCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCCACCGAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934213	G G	GGCTGCGT others(667): Show GGCTGCGTTACTGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTA CAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT CCGTTACAGGTGGGCGGGGGGGGCT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	417	0.0024	674	c.843 others(691): Show c.843-1556_843-1555insGCGTTACTGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGG GCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934713	A A	AGGCGGCT others(667): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGT TACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0161 a0001c0001t0003g0162	2	376	0.0053	674	c.843 others(691): Show c.843-1024_843-1023insCCGTTACAGGTGGGCGGGGGGGGGCTGC TCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCCTC others(667): Show CCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCC CTACCTCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CATCCCCTCCCCTTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCTTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	40	0.0250	674	c.77- others(691): Show c.77-45385_77-45384insCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCCTCCCCTCCCCTCCCCTACCTCCTCCCCTTCCCCCTCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCCTC others(667): Show CCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCC CTACCTCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CATCCCCTCCCCTTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCTTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	45	0.0222	674	c.22+ others(691): Show c.22+36326_22+36327insCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCCTCCCCTCCCCTCCCCTACCTCCTCCCCTTCCCCCTCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCATCCCCTCCCCTTCCCCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC44A5_chr1_75197129_75616114	75280140	A A	ATATATAT others(667): Show ATATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATA TAATATATAGTATATATTTTATGTTGTATATATAATATATATAGTATATA TTATATATTGTATATAATATATATAGTATATATTATATATTGTATATAAT ATATATAGTATATATTATATATTGTATATAATATATATAGTATATATAAT ATATTGTATATAATATATATTGTATATATAATATATATATTGTATATAAT ATATATATTGTATATATTATATATTGTATATATAATATATATATTGTATA TATTATATATTGTATATATAATATATATATTGTATATATTATATATTGTA TATATAATATATATATTGTATATATTATATATTGTATATATAATATATAT ATTGTATATATTATATATTGTATATATAATATATATATTGTATATATTAT ATATTGTATATATAATATATATATTGTATATATTATATATTGTATATATA ATATATATATTGTATATATTATATATTGTATATATAATATATATATTGTA TATATTATATATTGTATATATAATATATATATTGTATATATTATATATTG TATATATTATATATTGTATATATTATATATATATTGTATATATTATATAT TGTATATATTATATATTGTATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0065 a0001c0005t0006g0065	1	143	0.0070	674	c.176 others(691): Show c.176-5099_176-5098insATATATACAATATATAATATATACAATA TATAATATATACAATATATATATAATATATACAATATATAATATATACAA TATATAATATATACAATATATATATTATATATACAATATATAATATATAC AATATATATATTATATATACAATATATAATATATACAATATATATATTAT ATATACAATATATAATATATACAATATATATATTATATATACAATATATA ATATATACAATATATATATTATATATACAATATATAATATATACAATATA TATATTATATATACAATATATAATATATACAATATATATATTATATATAC AATATATAATATATACAATATATATATTATATATACAATATATAATATAT ACAATATATATATTATATATACAATATATAATATATACAATATATATATT ATATACAATATATATATTATATATACAATATATATTATATACAATATATT ATATATACTATATATATTATATACAATATATAATATATACTATATATATT ATATACAATATATAATATATACTATATATATTATATACAATATATAATAT ATACTATATATATTATATATACAACATAAAATATATACTATATATTATAT ATACAATATAAAATATATATAATATATATTAGATATACAATATATA	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(667): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGG GGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGG AGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGG GGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	674	c.12 others(685): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCC CCCTCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCC CCTCCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTT CCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGTGTG others(667): Show AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGT AGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATTCTGTGATGTGTG TGTAAGCTGTATGTGTGTAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	225	0.0044	674	c.35 others(685): Show c.3592_*3593insGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAA GCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGT ATTCTGTGATGTGTGTGTAAGCTGTATGTGTGTAGTGAGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2598		chr9	TogoVar
SRXN1_chr20_641615_658200	642199	G G	GGGGGGGC others(667): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGT GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	411	0.0024	674	c.65 others(685): Show c.6514_*6515insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCC CCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCC CGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4415		chr20	TogoVar
TBXAS1_chr7_139824264_140025293	139950811	T T	TTCCATCT others(667): Show TTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	65	0.0154	674	c.451 others(691): Show c.451-2476_451-2475insGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results