Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP61_chr20_20047532_20365698	20296016	T T	TCCTGCCT others(196): Show TCCTGCCTGCCTGCCTGCCTTCCTGCCTTCCCTTCCTCCCTCCCTCCCTA CCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCC TTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTT CTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCC ATCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	236	0.0042	203	c.321 others(222): Show c.3217-2165_3217-2164insCCTGCCTGCCTGCCTGCCTTCCTGCC TTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTCCT CCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTCCA TCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTTTC CCTTCCTCCCTCCCTTCCTTCCCATCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26			chr20	TogoVar
CFI_chr4_109735695_109806999	109753688	A A	ATAATGTA others(196): Show ATAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTATATTA TATATTATCTAATGTATAATTTTATATTATATATTATCTAATGTATAATT TCATATTATATATTATCTAATGTATAATTTTATATTATATATTATATAAT GTATAATTTTATATTATATAATATCTAATGTATAATTTTATATTATATAT TATC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18999.hp2 NA19000.hp1 others(1): Show NA18941.hp2 NA18999.hp2 NA19000.hp1 NA19070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 others(1): Show a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109	4	354	0.0113	203	c.905 others(220): Show c.905-1186_905-1185insGATAATATATAATATAAAATTATACATT AGATATTATATAATATAAAATTATACATTATATAATATATAATATAAAAT TATACATTAGATAATATATAATATGAAATTATACATTAGATAATATATAA TATAAAATTATACATTAGATAATATATAATATAAAATTATACATTAGATA ATATATAATATAAAATTATACATTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753688	A A	ATAATGTA others(196): Show ATAATGTATAATTTTATATTATATATTATCTAATGTATAATTTTATATTA TATATTATCTAATGTATAATTTTATATTATATATTATCTAATGTATAATT TTATATTATATATTATCTAATGTATAATTTTATATTATATATTATCTAAT GTATAATTTTATATTATATAATATCTAATGTATAATTTTATATTATATAT TATC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	354	0.0028	203	c.905 others(220): Show c.905-1186_905-1185insGATAATATATAATATAAAATTATACATT AGATATTATATAATATAAAATTATACATTAGATAATATATAATATAAAAT TATACATTAGATAATATATAATATAAAATTATACATTAGATAATATATAA TATAAAATTATACATTAGATAATATATAATATAAAATTATACATTAGATA ATATATAATATAAAATTATACATTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753833	A A	ATAATGTA others(196): Show ATAATGTATAATTTTATATTATATAATATCTAATGTATAATTTTATATTA TATATTATCTAATGTATAATTTTATATTATATATTATATAATGTATAATT TTATATTATATAATATCTAATGTATAATTTTATATTATATATTATCTAAT GTATAATTTTATATTATATATTATCTAATGTATAATTTTATATTATATAT TATC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01071.hp1 others(39): Show HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02080.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02717.hp2 HG02738.hp2 HG03927.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18956.hp2 NA18963.hp2 NA18969.hp2 NA18984.hp2 NA18991.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0011	a0001c0002 a0005c0007 a0007c0010 others(1): Show a0001c0002 a0005c0007 a0007c0010 a0011c0009	a0001c0002t0001 a0001c0002t0004 a0005c0007t0001 others(2): Show a0001c0002t0001 a0001c0002t0004 a0005c0007t0001 a0007c0010t0001 a0011c0009t0001	a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 others(39): Show a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0005c0007t0001g0069 a0005c0007t0001g0070 a0007c0010t0001g0062 a0011c0009t0001g0106	42	354	0.1186	203	c.905 others(220): Show c.905-1331_905-1330insGATAATATATAATATAAAATTATACATT AGATAATATATAATATAAAATTATACATTAGATAATATATAATATAAAAT TATACATTAGATATTATATAATATAAAATTATACATTATATAATATATAA TATAAAATTATACATTAGATAATATATAATATAAAATTATACATTAGATA TTATATAATATAAAATTATACATTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753833	A A	ATAATGTA others(196): Show ATAATGTATAATTTTATATTATATAATATCTAATGTATAATTTTATATTA TATATTATCTAATGTATAATTTTATATTATATATTATCTAATGTATAATT TTATATTATATAATATCTAATGTATAATTTTATATTATATATTATCTAAT GTATAATTTTATATTATATATTATCTAATGTATAATTTTATATTATATAT TATC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	354	0.0028	203	c.905 others(220): Show c.905-1331_905-1330insGATAATATATAATATAAAATTATACATT AGATAATATATAATATAAAATTATACATTAGATAATATATAATATAAAAT TATACATTAGATATTATATAATATAAAATTATACATTAGATAATATATAA TATAAAATTATACATTAGATAATATATAATATAAAATTATACATTAGATA TTATATAATATAAAATTATACATTA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CLPTM1L_chr5_1312752_1350099	1326557	C C	CACATTCC others(196): Show CACATTCCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCC TCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACACATTTCATCCA GCTCCTCCTCTACGGGGACATTCCATCCAGCTCCTCCTCTACGGGGACAT TCCATCCAGCTCCTCCTCTACAGGCACATTCCATCCAGCTCCTCCTCTAC GGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp1 HG03041.hp2 others(1): Show HG02647.hp1 HG02717.hp1 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0010 a0001c0001t0001g0243 a0001c0001t0001g0244	4	370	0.0108	203	c.108 others(220): Show c.1081-742_1081-741insCCCCGTAGAGGAGGAGCTGGATGGAATG TGCCTGTAGAGGAGGAGCTGGATGGAATGTCCCCGTAGAGGAGGAGCTGG ATGGAATGTCCCCGTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGA GGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGAAATGTGTCT GTAGAGGAGGAGCTGGATGGAATGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328711	C C	CCATCCAG others(196): Show CCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACA GACACATTTCATCCAGCTCCTCCTCTACAGGGACACTCCATCCAGATCCT TCTCTACAGACACATTTCATCCAGCTCCTCCTCTATAGACACATTCCATC CAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTATAGACAC ATTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	370	0.0027	203	c.108 others(222): Show c.1080+1568_1080+1569insGAATGTGTCTATAGAGGAGGAGCTGG ATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCTATAGAGGA GGAGCTGGATGAAATGTGTCTGTAGAGAAGGATCTGGATGGAGTGTCCCT GTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGAA ATGTGTCTGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328711	C C	CCATCCAG others(196): Show CCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACA GGGACACTCCATCCAGATCCTCCTCTACAGACACATTTCATCCAGCTCCT GCTCTACAGACACATTCCACCCAGCTCCTCCTCTACAGGGACATTCCACC CAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGACAC ATTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	370	0.0027	203	c.108 others(222): Show c.1080+1568_1080+1569insAAATGTGTCTGTAGAGGAGGAGCTGG ATGAAATGTGTCTGTAGAGGAGGAGCTGGGTGGAATGTCCCTGTAGAGGA GGAGCTGGGTGGAATGTGTCTGTAGAGCAGGAGCTGGATGAAATGTGTCT GTAGAGGAGGATCTGGATGGAGTGTCCCTGTAGAGGAGGAGCTGGATGAA ATGTGTCTGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328856	T T	TCATCCAG others(196): Show TCATCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCTCCTCTACA GACACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATCCAGCTCCT CCTCTACAGACACATTTCATACAGCTCCTCCTCTACAGAGACATTGCATC CAGCTCCTCCTCTACCGACACATTCCATCCAGCTCCTCCTCTACAGACAC ATTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	370	0.0027	203	c.108 others(222): Show c.1080+1423_1080+1424insGAATGTGTCTGTAGAGGAGGAGCTGG ATGGAATGTGTCGGTAGAGGAGGAGCTGGATGCAATGTCTCTGTAGAGGA GGAGCTGTATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTCCCT GTAGAGGAGGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGA ATGTGTCTGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328885	C C	CCATCCAG others(196): Show CCATCCAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACA GGGACATTCCATCCAGCTCCTCCTCTACAGACACATTCCATCCAGCTCCT CCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATC CAGCTCCTCCTCTACAGACACATTGCATCCAGCTCCTCCTCTACAGACAC ATTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01981.hp2 HG02004.hp1 others(1): Show HG01123.hp2 HG01981.hp2 HG02004.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0219	4	370	0.0108	203	c.108 others(222): Show c.1080+1394_1080+1395insAAATGTGTCTGTAGAGGAGGAGCTGG ATGCAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTCCCTGTAGAGGA GGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCT GTAGAGGAGGAGCTGGATGGAATGTCCCTGTAGAGGAGGAGCTGGATGAA ATGTGTCTGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1328943	C C	CCATCCAG others(196): Show CCATCCAGCTCCTCCTCTACAGACACATTTCATACAGCTCCTCCTCTACA GAGACATTTCATCCAGCTCCTCCTCTATAGACACATTCCATCCAGCTCCT CCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGGACATTCCATC CAGCTCCTCCTCTACAGACACATTTCATCCAGCTCCTCCTCTACAGGGAC ATTT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	370	0.0027	203	c.108 others(222): Show c.1080+1336_1080+1337insAAATGTCCCTGTAGAGGAGGAGCTGG ATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTCCCTGTAGAGGA GGAGCTGGATGAAATGTGTCTGTAGAGGAGGAGCTGGATGGAATGTGTCT ATAGAGGAGGAGCTGGATGAAATGTCTCTGTAGAGGAGGAGCTGTATGAA ATGTGTCTGTAGAGGAGGAGCTGGATG	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329487	T T	TTGGTGGA others(196): Show TTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGT GGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGACTCTC TGCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	370	0.0027	203	c.108 others(220): Show c.1080+792_1080+793insGGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGATAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCC TGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCA GAGAGTCCTGAGGCTCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329556	G G	GGCCTCAG others(196): Show GGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTG GTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTA TCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCT CAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGA CAGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18994.hp1 NA19056.hp2 HG02055.hp2 NA18994.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0302 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0302	3	370	0.0081	203	c.108 others(220): Show c.1080+723_1080+724insTCTGTCCACCAGGCAGAGAGTCCTGAGG CTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAG TCCTGAGGCCCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAGGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329556	G G	GGCCTCAG others(196): Show GGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTG GTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTA TCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCT CAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGA CAGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	370	0.0027	203	c.108 others(220): Show c.1080+723_1080+724insTCTGTCCACCAAGCAGAGAGTCCTGAGG CTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAG TCCTGAGGCCCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAGGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329574	T T	TTGGTGGA others(196): Show TTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGT GGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTC TGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01069.hp1 others(11): Show HG00140.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01175.hp1 HG01346.hp1 HG02273.hp1 HG04199.hp1 NA18961.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0125 others(9): Show a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0125 a0001c0001t0002g0246 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276	14	370	0.0378	203	c.108 others(220): Show c.1080+705_1080+706insGGCAGAGAGTCCTGAGGCTCTGTCCACC AAGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTC TGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGATAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCA GAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329574	T T	TTGGTGGA others(196): Show TTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGT GGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTC TGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0262	1	370	0.0027	203	c.108 others(220): Show c.1080+705_1080+706insGGCAGAGAGTCCTGAGGCTCTGTCCACC AAGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCTC TGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGATAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCA GAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329603	C C	CTGGTGGA others(196): Show CTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGA CTATCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAG CCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGT GGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTC TGCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	370	0.0027	203	c.108 others(220): Show c.1080+676_1080+677insAGCAGAGAGTCCTGAGGCCCTGTCCACC AAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGAGAGTCCTGAGGCTC TGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAGGCA GAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329632	C C	CTGGTGGA others(196): Show CTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAG CCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGT GGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTC TGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	370	0.0027	203	c.108 others(220): Show c.1080+647_1080+648insAGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTC TGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCA GATAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329632	C C	CTGGTGGA others(196): Show CTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGA CTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGG CCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGT GGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTC TGCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp2 HG03139.hp1 others(1): Show HG02257.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0304 a0001c0001t0002g0003 a0001c0001t0002g0304	4	370	0.0108	203	c.108 others(220): Show c.1080+647_1080+648insAGCAGAGAGTCCTGAGGCCCTGTCCACC AAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCTC TGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCC TGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCA GATAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329661	C C	CTGGTGGA others(196): Show CTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGAGCCTCAGGA CTCTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGG CCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGT GGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTC TGCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	370	0.0027	203	c.108 others(220): Show c.1080+618_1080+619insAGCAGAGAGTCCTGAGGCCCTGTCCACC AAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCC TGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCC TGAGGCTCTGTCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAGGCA GAGAGTCCTGAGGCCCTGTCCACCA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329713	C C	CTCTGCCT others(196): Show CTCTGCCTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGGCC TCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGG ACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTG CTTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGG ACTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01496.hp1 HG00642.hp2 HG00733.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0298	3	370	0.0081	203	c.108 others(220): Show c.1080+566_1080+567insTAGTCCTGAGGCCCTGTCCACCAGGCAG AGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCA CCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGC CCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGT CCTGAGGCTCTGTCCACCAGGCAGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329713	C C	CTCTGCCT others(196): Show CTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGAGCC TCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGG ACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTG CTTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGG ACTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0265 a0001c0001t0002g0258 a0001c0001t0002g0265	2	370	0.0054	203	c.108 others(220): Show c.1080+566_1080+567insTAGTCCTGAGGCCCTGTCCACCAGGCAG AGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCA CCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGC CCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGAGAGT CCTGAGGCCCTGTCCACCAGGCAGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329730	A A	AGCCTCAG others(196): Show AGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTG GTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTC TCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCT CAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGA CAGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02723.hp2 HG02155.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0313 a0001c0001t0001g0014 a0001c0001t0001g0313	2	370	0.0054	203	c.108 others(220): Show c.1080+549_1080+550insCCTGTCCACCAGGCAGATAGTCCTGAGG CCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAG TCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAA GCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTG TCCACCAAGCAGAGAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1329742	C C	CTCTGCTT others(196): Show CTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGGCC TCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGG ACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTG CCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGG ACTA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp2 HG02559.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0280 a0001c0001t0002g0247 a0001c0001t0002g0280	2	370	0.0054	203	c.108 others(220): Show c.1080+537_1080+538insTAGTCCTGAGGCCCTGTCCACCAGGCAG AGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCA CCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGC CCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGT CCTGAGGCTCTGTCCACCAAGCAGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333076	C C	CTGTATAC others(196): Show CTGTATACACACCAGATAAGGGGGGACTACTGTATACACACCGGATGAGG ATAAGGGGAGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGT ATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGGGAT GAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGGGA CTAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0342	1	370	0.0027	203	c.892 others(220): Show c.892-1194_892-1193insATAGTCCCCCCTTATCCTCATCCAATGT GTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTGTATACAGTAGTC CCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCC GTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAG TCCCCCCTTATCTGGTGTGTATACA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CLPTM1L_chr5_1312752_1350099	1333187	C C	CGGATAAG others(196): Show CGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGAGAC TACTGTATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGA TGAGGATAAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGG ACTACTGTATACACACACGGGATGAGGATAAGGGGGGACTACTGTATACA CATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03471.hp2 HG02818.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	370	0.0054	203	c.891 others(220): Show c.891+1101_891+1102insAATGTGTATACAGTAGTCCCCCCTTATC CTCATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTG TATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCT CATCCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCCGGTG TGTATACAGTAGTCCCCCCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(196): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAAGAAAAAAAAGAAAGAAAAGAAAGAAAGAGGGAAGGAAGGAAA GAGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0025 a0005c0005t0025	a0005c0005t0025g0182 a0005c0005t0025g0182	1	268	0.0037	203	c.-46 others(222): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTCTTTCCTTCTTTCCTTCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COMMD10_chr5_116080025_116298287	116158474	C C	CCTCTCTC others(196): Show CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCCCCCTCT CCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCTCCCTC TCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	350	0.0029	203	c.510 others(222): Show c.510+24297_510+24298insTCTCTCTCCCTCTCCTCTCTCTCCCT CTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCT CTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTC TCCCTCTCCTCTCTCCCCCTCTCCTCTCTCTCTCCCTCTCCTCTCTCTCT CCCTCTCCTCTCTCTCTCCCTCTCCTC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COPS4_chr4_83030183_83080818	83034520	A A	ATTTTTTT others(196): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGTGTAGCTGGGACT ACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTTTTTTTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	372	0.0027	203	c.-70 others(212): Show c.-705_-704insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG TGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTTTTTTTTTTTTTT	COPS4	ENSG00000138663.9	transcript	ENST00000264389.7	protein_coding		662		chr4	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCGT others(196): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0148 a0003c0006t0003g0148	1	348	0.0029	203	c.928 others(218): Show c.928-752_928-751insACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACATGGCCCC CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(196): Show CCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCC CCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	348	0.0029	203	c.928 others(218): Show c.928-601_928-600insCACCCGCGTGTCACCCACAGAAACACGGCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGAAACACGGCCCCCGTGTTACCCACAGATACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(196): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC ACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGG CCCC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0149 a0003c0006t0003g0149	1	348	0.0029	203	c.928 others(218): Show c.928-442_928-441insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90647191	A A	ACAATCCT others(196): Show ACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTATTCCAC ACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTCCTTCTCCTCCACACC CCTCCAAATTCCACAGCCCTCCTCCACCTCTACACCCACTGCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACATCCCTCC TCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	276	0.0036	203	c.50 others(214): Show c.5051_*5052insCAATCCTCCTCCACACCCCTCCTCCTCCACAATC CTCCTCTTATTCCACACCCCTCCTCCTCCAACCCCTCCTCCAAAGCCCTC CTTCTCCTCCACACCCCTCCAAATTCCACAGCCCTCCTCCACCTCTACAC CCACTGCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCT CCTCCACATCCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1847		chr15	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(196): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	360	0.0028	203	c.28- others(218): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(196): Show ATATATTATATATTATATGTATATTATGTATACATAATAGATTATATATT ATATGTATATTATGTATACATAATAGATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATAGAT TATATATTATATGTATATTATGTATACATAATATATTATATATTATATGT ATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	344	0.0029	203	c.896 others(220): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATCTATTATGTATACATAATATAC ATATAATATATAATATATTATGTATACATAATATACATATAATATATAAT CTATTATGTATACATAATATACATATAATATATAATCTATTATGTATACA TAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(196): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATATTATATATTATATGT ATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03942.hp1 NA18951.hp2 others(7): Show HG03017.hp1 HG03942.hp1 NA18951.hp2 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18994.hp2 NA19000.hp2 NA19064.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0195	10	344	0.0291	203	c.896 others(220): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATATTATGTATACATAATATAC ATATAATATATAATATATTATGTATACATAATATACATATAATATATAAT ATATTATGTATACATAATATACATATAATATATAATATATTATGTATACA TAATATACATATAATATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CUL4A_chr13_113204613_113272108	113232039	C C	CCACCACT others(196): Show CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCCACCACTACCCGCCCACCACCATTACTGCCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	396	0.0025	203	c.513 others(220): Show c.513-1081_513-1080insCCACCACTACCCGCCCACCACCATTACT GCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232158	C C	CCACCACT others(196): Show CCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	396	0.0025	203	c.513 others(220): Show c.513-1009_513-1008insTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232186	G G	GTCACCAC others(196): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	396	0.0025	203	c.513 others(218): Show c.513-991_513-990insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(196): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19081.hp2 NA19000.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0110 a0002c0002t0001g0089 a0001c0001t0001g0110 a0002c0002t0001g0089	2	396	0.0051	203	c.513 others(218): Show c.513-959_513-958insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DACT2_chr6_168301904_168324777	168309450	G G	GTAGACAC others(196): Show GTAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCC GTTTGCGTATAGACACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGT GCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCCGTTTGCGTATAGA CACAGGGTGCGGGGCCGTTTGCGTGTAGACACAGGGTGCGGGGCCGTTTG CGTA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0268 a0002c0002t0005g0268	1	476	0.0021	203	c.659 others(218): Show c.659-353_659-352insTACGCAAACGGCCCCGCACCCTGTGTCTAC ACGCAAACGGCCCCGCACCCTGTGTCTATACGCAAACGGCCCCGCACCCT GTGTCTACACGCAAACGGCCCCGCACCCTGTGTCTACACGCAAACGGCCC CGCACCCTGTGTCTATACGCAAACGGCCCCGCACCCTGTGTCTACACGCA AACGGCCCCGCACCCTGTGTCTA	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding	3/3			chr6	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(196): Show ATGTGTGTGTATATACACATATATATACTATGTGTGTGTATATATACATA TATATACTATGTGTGTATATATATACATATATACTATATGTGTGTATATA TATACATATATACTATATGTGTGTGTATATATATACATATATATACTATA TATGTGTGTGTGTGTATGTATGTATATATATATATATATATATATTTTTT TTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG03654.hp1 HG01256.hp2 HG01258.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0012 a0001c0002t0008g0012	3	380	0.0079	203	c.-11 others(214): Show c.-1175_-1174insTGTGTGTGTATATACACATATATATACTATGTGT GTGTATATATACATATATATACTATGTGTGTATATATATACATATATACT ATATGTGTGTATATATATACATATATACTATATGTGTGTGTATATATATA CATATATATACTATATATGTGTGTGTGTGTATGTATGTATATATATATAT ATATATATATTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCLK2_chr4_150073445_150262438	150251256	C C	CCCCCCAC others(196): Show CCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCC AACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCAACACC CCCACACCTCCCACACCTCCCACATCCCCCACACCCCCCAAATCCCCCAC ACCCCCCACATCCCCCATACCCCTCACACCACACATTCCCTCACACCCCT CACA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0028 a0001c0001t0016g0028	1	116	0.0086	203	c.207 others(222): Show c.2073+1574_2073+1575insCCCACACCCCCCACATCCCCACACAC CACAAATCCTCCACACCCCCCAACACCCCCACACACCCCCCACACCACAC ATCCCTCACACCCCCAACACCCCCACACCTCCCACACCTCCCACATCCCC CACACCCCCCAAATCCCCCACACCCCCCACATCCCCCATACCCCTCACAC CACACATTCCCTCACACCCCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(196): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTC CCCT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	284	0.0035	203	c.101 others(222): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCTCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(196): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0172 a0001c0001t0014g0172	1	284	0.0035	203	c.101 others(222): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(196): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0161 a0001c0021t0001g0161	1	284	0.0035	203	c.101 others(222): Show c.101-32145_101-32144insCTCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598735	C C	CCCCCCTC others(196): Show CCCCCCTCCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCC CCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCT CCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCC CCTCTCCCCCTCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTC CCCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0084 a0001c0001t0016g0084	1	284	0.0035	203	c.101 others(222): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCCTCTCCCCCTCTCCCCCT CCCCTCCCCTCTCCCCTCCCCCTCCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGGGT others(196): Show GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCT GTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp1 HG03471.hp1 HG02809.hp2 HG02976.hp1 HG03471.hp1	a0011 a0026 a0065 a0011 a0026 a0065	a0011c0084 a0026c0077 a0065c0094 a0011c0084 a0026c0077 a0065c0094	a0011c0084t0002 a0026c0077t0002 a0065c0094t0002 a0011c0084t0002 a0026c0077t0002 a0065c0094t0002	a0011c0084t0002g0104 a0026c0077t0002g0163 a0065c0094t0002g0151 a0011c0084t0002g0104 a0026c0077t0002g0163 a0065c0094t0002g0151	3	170	0.0177	203	c.101 others(222): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGG GTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGG TCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912204	G G	GGGGGGTC others(196): Show GGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGG GGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG TCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTACTGGGGGGGGTCTG TCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02976.hp2 HG02280.hp1 HG02922.hp2 HG02976.hp2	a0009 a0015 a0009 a0015	a0009c0012 a0015c0018 a0009c0012 a0015c0018	a0009c0012t0002 a0015c0018t0002 a0009c0012t0002 a0015c0018t0002	a0009c0012t0002g0029 a0009c0012t0002g0031 a0015c0018t0002g0027 a0009c0012t0002g0029 a0009c0012t0002g0031 a0015c0018t0002g0027	3	170	0.0177	203	c.101 others(222): Show c.10135-892_10135-891insGGGTCTGTCCTGGGTGGGTCTGTCCT GGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTG GGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGG GTCTGTACTGGGGGGGGTCTGTCCTGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78478154	C C	CCATTATC others(196): Show CCATTATCACCATCATATCACCACCACCATCACTATCATAACTATCACCA CCACCATCATCACCACCATCATCACCACCATCACCATTATCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCATTATCTCCACCATCACCACCACGTGGCATCATCACATCACCATCA TCAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02630.hp2 HG02965.hp1 others(1): Show HG01261.hp2 HG02630.hp2 HG02965.hp1 HG03209.hp1	a0005 a0011 a0027 others(1): Show a0005 a0011 a0027 a0074	a0005c0226 a0011c0207 a0027c0028 others(1): Show a0005c0226 a0011c0207 a0027c0028 a0074c0106	a0005c0226t0002 a0011c0207t0001 a0027c0028t0001 others(1): Show a0005c0226t0002 a0011c0207t0001 a0027c0028t0001 a0074c0106t0001	a0005c0226t0002g0079 a0011c0207t0001g0117 a0027c0028t0001g0116 others(1): Show a0005c0226t0002g0079 a0011c0207t0001g0117 a0027c0028t0001g0116 a0074c0106t0001g0103	4	252	0.0159	203	c.799 others(220): Show c.7992+870_7992+871insATGATGATGGTGATGTGATGATGCCACG TGGTGGTGATGGTGGAGATAATGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATAATGGTGATGGT GGTGATGATGGTGGTGATGATGGTGGTGGTGATAGTTATGATAGTGATGG TGGTGGTGATATGATGGTGATAATG	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	51/80			chr17	TogoVar

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Search Results (Total: 10000 hits)