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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(415): Show GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	246	0.0041	422	c.-18 others(433): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCT CACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825069	C C	CCCCGCAC others(415): Show CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTTCACCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCAC CTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGT CCCCCCACACACCCACCTGTTCA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0001 a0001c0070t0001	a0001c0070t0001g0130 a0001c0070t0001g0130	1	363	0.0028	422	c.-48 others(437): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACC CCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACACCCACCTGTTC ACCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASH1L_chr1_155330268_155567803	155444916	C C	CTTGTTTG others(415): Show CTTGTTTGTTTGTTCTTTAAAGGGACGGAGTCTGGCTCTGTTGTCCAAGC TGGAGTGCGACAGCAGAATCACAGCTCACTGCAGCATCCACCTCCTAGGC TCAAGGGATTCTTACATGTCAGCCTCCCACGTAACTGGGACTACAGGCAT GAGACAGGACACTTGGCTAATTTTTCTATTTTTTTTTTTTTTTTTTTAGA GACAGGGTCTCACTATGCTGCCCAGGCTGGTTTCCAACTCCTGGGCTCAA GTGATTATCCGGCCACATCCTCCCTAAGTGTTTTTTTTCATAGACAGAGT ATTGCTTCAATGATCCTCTAGCCTCAGCCTCCCAAAGTGTTGAGCTTACA GGCATGAGCCACCAAGCGCAAGTCTAGCCTTAAATAACGTTTTTTTGAAA AGCAAAAGTCTTAAAGTTTGATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0168 a0001c0008t0002g0168	1	182	0.0055	422	c.508 others(441): Show c.5087-5849_5087-5848insTATCAAACTTTAAGACTTTTGCTTTT CAAAAAAACGTTATTTAAGGCTAGACTTGCGCTTGGTGGCTCATGCCTGT AAGCTCAACACTTTGGGAGGCTGAGGCTAGAGGATCATTGAAGCAATACT CTGTCTATGAAAAAAAACACTTAGGGAGGATGTGGCCGGATAATCACTTG AGCCCAGGAGTTGGAAACCAGCCTGGGCAGCATAGTGAGACCCTGTCTCT AAAAAAAAAAAAAAAAAAATAGAAAAATTAGCCAAGTGTCCTGTCTCATG CCTGTAGTCCCAGTTACGTGGGAGGCTGACATGTAAGAATCCCTTGAGCC TAGGAGGTGGATGCTGCAGTGAGCTGTGATTCTGCTGTCGCACTCCAGCT TGGACAACAGAGCCAGACTCCGTCCCTTTAAAGAACAAACAAACAA	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	4/27			chr1	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(415): Show GGGAAGGGTAGGGGAGGTGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCAGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGA GGGGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	186	0.0108	422	c.565 others(441): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCC CTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTC CCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCC CTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCTGCCCCTCCCTGT CCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTAC CCTTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCC TCCCCTTCCCCTCCTCTCCTCTTCCCCTCACCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
CAPN15_chr16_522712_559636	544791	T T	TCGCCTCC others(415): Show TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	410	0.0024	422	c.-22 others(439): Show c.-22-2024_-22-2023insCCTCCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCG CCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(415): Show TCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGC CAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTC ACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCT GCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTC CTGTCCCCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0007 a0025c0033t0007	a0025c0033t0007g0004 a0025c0033t0007g0004	1	284	0.0035	422	c.411 others(439): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATA GGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGA TGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(415): Show TCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGC CAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTC ACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATTCTCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACA GCTCACCTTCCTATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCT GCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACCTTC CTGTCCCCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03516.hp2 HG01109.hp2 HG03516.hp2	a0001 a0001	a0001c0007 a0001c0036 a0001c0007 a0001c0036	a0001c0007t0005 a0001c0036t0005 a0001c0007t0005 a0001c0036t0005	a0001c0007t0005g0242 a0001c0036t0005g0099 a0001c0007t0005g0242 a0001c0036t0005g0099	2	284	0.0070	422	c.411 others(439): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATA GGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTG AGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGGAAGGTGAGCTGTGG CAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGAATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGA TGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(415): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCCCACCTTCCTGTCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20129.hp1 HG03516.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0007 a0006c0012t0001 a0001c0001t0007 a0006c0012t0001	a0001c0001t0007g0002 a0006c0012t0001g0247 a0001c0001t0007g0002 a0006c0012t0001g0247	2	284	0.0070	422	c.411 others(439): Show c.4112+679_4112+680insGGACAGGAAGGTGGGCTGTGGCAGGTGA GGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGA GCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(415): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTTCCCC TCCTCTCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	256	0.0039	422	c.-45 others(443): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(415): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCT CCTCTCCCCTCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	256	0.0039	422	c.-45 others(443): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960376	C C	CATATATG others(415): Show CATATATGTGTGTATGTGTGCACATACATATATACATATATGTGTGTATG TGTGCACATACATATATACATGTATGTGTGTATGTGTGCACATACGGTAT ATACATATATGTGTGTATGTGTGCACATACGGTATATACATATATGTGTG TATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACATAC GGTATATACATATATGTGTGTATGTGTGCACATACGGTATATACATATAT GTGTGTATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCA CATACGGTATATACATATATGTGTGTATGTGTACACATACGGTATATACA TATATGTGTGTATGTGTACACATACGGTATATACATATATGTGTGTATGT GTACACATACGGTATATACATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0032 a0001c0001t0053g0032	1	168	0.0060	422	c.253 others(441): Show c.253-58904_253-58903insATATGTATATACCGTATGTGTACACA TACACACATATATGTATATACCGTATGTGTACACATACACACATATATGT ATATACCGTATGTGTACACATACACACATATATGTATATACCGTATGTGC ACACATACACACATATATGTATATACCGTATGTGCACACATACACACATA TATGTATATACCGTATGTGCACACATACACACATATATGTATATACCGTA TGTGCACACATACACACATATATGTATATACCGTATGTGCACACATACAC ACATATATGTATATACCGTATGTGCACACATACACACATATATGTATATA CCGTATGTGCACACATACACACATACATGTATATATGTATGTGCACACAT ACACACATATATGTATATATGTATGTGCACACATACACACATATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1333222	C C	CAGATGAA others(415): Show CAGATGAAGATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGG GGGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTAAAC ACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAG GGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTAT ACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCAGATGAAG ATAAGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGGGGGACTAC TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACGGGA TGAGGATAAGGGGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGG ACTACTGTATACACACCGGATGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	370	0.0027	422	c.891 others(439): Show c.891+1066_891+1067insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTATCCTCATCCCG TGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCA TCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACAGTAGTCCCCCCTTAT CCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTTTA CAGTAGTCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTA TCCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCTTCATCT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(415): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGG AGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGA GGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAG GGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGG GGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGG GAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAGGG GAGGGGAAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01258.hp1 HG01433.hp1 others(10): Show HG00558.hp2 HG01258.hp1 HG01433.hp1 HG01978.hp2 HG02040.hp2 HG02132.hp2 NA18981.hp2 NA18985.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 others(10): Show a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0007g0230	13	308	0.0422	422	c.637 others(437): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCC CTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCT CCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTC CCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTC CCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCC CCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCC CCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(415): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGG GGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGA GAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGA AGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGG AAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAG GGGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0180 a0001c0002t0003g0180	1	308	0.0033	422	c.637 others(437): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCGTCCCCTCCC CTCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCC TCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCC TGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCAAGC others(415): Show ACTCAAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	320	0.0031	422	c.-52 others(439): Show c.-52+9540_-52+9541insAAGCCTGGGTGACAAGAGCGAGACTCTG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTG TATTTCTGTTTATAACTGGTGGTGGGGGGGGGGAGTTAAATTAATTTTGC CTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGG GCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGC CTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(415): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01070.hp1 others(3): Show HG00140.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0101 a0001c0001t0002g0102 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0003g0104	6	320	0.0188	422	c.-52 others(439): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGAC AACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGG CTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(415): Show TATGCACCTATACATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTA TATATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTA TATATGCATACGTATATATGCACACGTATATATGCATACGTATATATGCA CACGTATATATGCATACGTATATATGCACACGTATATATGCACGTATATA TGCACATACGTATATATGCACGTATATATGCACATACGTATATATGCACG TATATATGCACATACGTATATATGCACGTATATATATACATACGTATATA TGCACGTATATATATACATACGTATATATGCACGTATATATATACATACG TATATATGCACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0033 a0033	a0033c0042 a0033c0042	a0033c0042t0004 a0033c0042t0004	a0033c0042t0004g0004 a0033c0042t0004g0004	1	126	0.0079	422	c.156 others(441): Show c.1562-2383_1562-2382insGTATATATACACGTGCATATATACGT ATGTATATATATACGTGCATATATACGTATGTATATATATACGTGCATAT ATACGTATGTATATATATACGTGCATATATACGTATGTGCATATATACGT GCATATATACGTATGTGCATATATACGTGCATATATACGTATGTGCATAT ATACGTGCATATATACGTGTGCATATATACGTATGCATATATACGTGTGC ATATATACGTATGCATATATACGTGTGCATATATACGTATGCATATATAC GTGTGCATATATACGTGCATATATACGTGCATATATACGTGCATATATAC GTGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATATAT ACGTGTGCATATATACGTGCATATATACGTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(415): Show TATGCACCTATACATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTA TATATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTA TATATGCATACGTATATATGCACACGTATATATGCATACGTATATATGCA CACGTATATATGCATACGTATATATGCACACGTATATATGCACGTATATA TGCACATACGTATATATGCACGTATATATGCACATACGTATATATGCACG TATATATGCACATACGTATATATGCACGTATATATGCACATACGTATATA TGCACGTATATATGCACATACGTATATATGCACGTATATATATACATACG TATATATGCACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02258.hp2 HG02723.hp1	a0001 a0024 a0001 a0024	a0001c0115 a0024c0038 a0001c0115 a0024c0038	a0001c0115t0042 a0024c0038t0075 a0001c0115t0042 a0024c0038t0075	a0001c0115t0042g0055 a0024c0038t0075g0067 a0001c0115t0042g0055 a0024c0038t0075g0067	2	126	0.0159	422	c.156 others(441): Show c.1562-2383_1562-2382insGTATATATACACGTGCATATATACGT ATGTATATATATACGTGCATATATACGTATGTGCATATATACGTGCATAT ATACGTATGTGCATATATACGTGCATATATACGTATGTGCATATATACGT GCATATATACGTATGTGCATATATACGTGCATATATACGTATGTGCATAT ATACGTGCATATATACGTGTGCATATATACGTATGCATATATACGTGTGC ATATATACGTATGCATATATACGTGTGCATATATACGTATGCATATATAC GTGTGCATATATACGTGCATATATACGTGCATATATACGTGCATATATAC GTGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATATAT ACGTGTGCATATATACGTGCATATATACGTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(415): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0012 a0001c0045t0012	a0001c0045t0012g0010 a0001c0045t0012g0010	1	126	0.0079	422	c.416 others(443): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCT CTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATG others(415): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATGTACACATATATATGTGTATATA CATATATACACATATATGTACACATATATATGTGTATATACATATATACA CATATATGTACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATATGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp2 NA18968.hp2 HG00438.hp1 HG02056.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	264	0.0114	422	c.19 others(433): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGT GTATATATACATATATGTGTATATACGTATATACACATGTGTATATACGT ATATACACATGTGTATATACGTATATACACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATG others(415): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATGTACACATATATATGTGTATATA CATATATACACATATATGTACACATATATATGTGTATATACATATATACA CATATATGTACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATATGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG02056.hp1 others(1): Show HG00438.hp1 HG00609.hp1 HG02056.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	4	272	0.0147	422	c.19 others(433): Show c.1992_*1993insATATATGTGTGTATATACGTATATACACATGTGT ATATACGTATATACACATGTGTATATACGTATATACACATATATGTATAT ATACACACATATACACACATATATGTACACATATATATGTGTATATACAT ATATACACATATATATGTGTATATACATATATACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATGTACACATATATATGTGT ATATACATATATACACATATATGTACACATATATATGTGTATATACATAT ATACACATATATGTACACATATATATGTGTATATACATATATACACATAT ATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTGTAT ATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(415): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	367	0.0027	422	c.-42 others(433): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(415): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAAA ATAAAAATAAAATAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG06807.hp2 HG01081.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0022 a0001c0003 a0002c0022	a0001c0003t0010 a0002c0022t0008 a0001c0003t0010 a0002c0022t0008	a0001c0003t0010g0161 a0002c0022t0008g0162 a0001c0003t0010g0161 a0002c0022t0008g0162	2	316	0.0063	422	c.216 others(441): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1450197	C C	CGAGGTGG others(415): Show CGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCT CGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGG CTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTG AGGCGGAGCTGTGAGGGTGAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0001t0002g0032 a0002c0001t0019g0030	2	40	0.0500	422	c.107 others(441): Show c.107-51169_107-51168insGAGGTGGGCGGCCTCGGTGGCTGAGG CGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGG AGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGC TGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGT GAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAG GGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGT GAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAA GACGAGGTGGGCGGTCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGAC GAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DMD_chrX_31114222_33216549	33010003	T T	TGTGTACA others(415): Show TGTGTACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATG TGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACA TGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATGTACA CATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATGTA CACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATG TACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTA TGTACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTG TATGTACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATG TGTATGTACACATGTGTGTGCAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0034 a0004c0011t0001g0034	1	126	0.0079	422	c.93+ others(439): Show c.93+10135_93+10136insGTGCACACACATGTGTACATACACATGT GCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATACACAT GTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATACAC ATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATAC ACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACAT ACACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTAC ATACACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGT ACATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGT GTACATACACATGTGCACACACATGTGTACATACACATGTACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	126928387	T T	TCAGTATT others(415): Show TCAGTATTCTTAAGCCTCCAGCTTAAGATGTGGTTATGCTAGATTAGGGT GGGCCTTTAATCCAGGATGCCTGGTGTCCTTGTTAAGAAGAGGAGGGACA CATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCAT GTGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACT TGTAAACTTGCCCAGTATTCTTAAGCCTCCAGCTTAAGGTGTGGTCATAC TGGGTTAGGGTGGGCCTTTAATCCAATATGCGTGATGTCCTTGTTAAGAA GAGGAGGGACGCATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGG CTGGTGTCCATGTGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCT GCAGTCTGACTTGTGAACTTGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp2 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0015 a0001c0033 a0001c0015 a0001c0033	a0001c0015t0001 a0001c0033t0007 a0001c0015t0001 a0001c0033t0007	a0001c0015t0001g0127 a0001c0033t0007g0087 a0001c0015t0001g0127 a0001c0033t0007g0087	2	136	0.0147	422	c.46+ others(439): Show c.46+22857_46+22858insTATGCTAGATTAGGGTGGGCCTTTAATC CAGGATGCCTGGTGTCCTTGTTAAGAAGAGGAGGGACACATGAGAACTCA GCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCATGTGTCTCAGGCC CTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACTTGTAAACTTGCC CAGTATTCTTAAGCCTCCAGCTTAAGGTGTGGTCATACTGGGTTAGGGTG GGCCTTTAATCCAATATGCGTGATGTCCTTGTTAAGAAGAGGAGGGACGC ATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCATG TGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACTT GTGAACTTGCCCAGTATTCTTAAGCCTCCAGCTTAAGATGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947915	G G	GTGGTAGT others(415): Show GTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTTGGTAGTATTACTGTTGGTGGTGGTGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0009 a0003c0031t0009	a0003c0031t0009g0124 a0003c0031t0009g0124	1	136	0.0074	422	c.47- others(439): Show c.47-22783_47-22782insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG GTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(415): Show TAAAACTACTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTC AACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGG CAAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAA AATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAA AAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAA AAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGG TGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAG GGGGTAGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCT TGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02451.hp1 others(14): Show HG01109.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 NA18906.hp1 NA18972.hp2 NA19057.hp2 NA19060.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 others(4): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0005c0005t0001 a0005c0005t0005	a0003c0003t0001g0138 a0003c0003t0001g0159 a0003c0003t0001g0169 others(14): Show a0003c0003t0001g0138 a0003c0003t0001g0159 a0003c0003t0001g0169 a0003c0003t0003g0176 a0004c0004t0001g0183 a0004c0004t0002g0130 a0004c0004t0002g0186 a0004c0004t0002g0247 a0004c0004t0006g0008 a0004c0004t0006g0009 a0005c0005t0001g0096 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0005g0001 a0005c0005t0005g0002 a0005c0005t0005g0004 a0005c0005t0005g0007	17	254	0.0669	422	c.118 others(443): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCTACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(415): Show TAAAACTACTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTC AACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGG CAAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAA AATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAA AAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAA AAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGG TGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAG GGGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCT TGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(78): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18951.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0009c0011 a0012c0008	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0009c0011t0001 a0012c0008t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 others(78): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0014g0254 a0002c0002t0001g0023 a0003c0003t0001g0124 a0003c0003t0001g0147 a0003c0003t0002g0061 a0003c0003t0002g0085 a0003c0003t0002g0123 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0129 a0003c0003t0002g0135 a0003c0003t0002g0143 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0009g0201 a0003c0003t0009g0204 a0009c0011t0001g0211 a0012c0008t0001g0197	81	254	0.3189	422	c.118 others(443): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(415): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGTGTGTGTGTGT GTGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGT GTGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGG GTATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTA TGGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGG GTGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGT GTGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGT GTGTGGCTATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	202	0.0050	422	c.262 others(439): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGTGTGTGTG TGTGTGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGG TGTGTGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTG TGGGTATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGG GTATGGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTG TGGGTGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTG GGTGTGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTG TGTGTGTGGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010930	T T	TCTGGTGG others(415): Show TCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGA CTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTG GGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCTCCTACACC ACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTC CTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCG AGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	370	0.0027	422	c.134 others(439): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCTCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCA TTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCA CCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCT CCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTGGTGG AGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(415): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	422	c.50 others(433): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar
IFT88_chr13_20562157_20696444	20695443	A A	AAGACCAT others(415): Show AAGACCATCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGA GCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAA CTCAATCCTTGACTGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTA AGAGAGGAAAGAGGACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTA TGGTTCTTATATATACAATGCTTGGCATGTAATAAAATTACTGTGGCTGG GCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGG CAGATCACGAGGTCAGGAGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG03831.hp2 NA18612.hp2 others(3): Show HG00673.hp1 HG03831.hp2 NA18612.hp2 NA18975.hp2 NA19077.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0051 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0073	6	308	0.0195	422	c.42 others(433): Show c.4268_*4269insAGACCATCCTGACCAACATGGTGAAACCCCGTCT CTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGACCAGGACT TCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGA GACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATTAGTCCTG AATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTAAGAATAT CATTTGCAGTCTCTATGGTTCTTATATATACAATGCTTGGCATGTAATAA AATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTG GGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCG	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding		4000		chr13	TogoVar
KALRN_chr3_124028369_124731325	124109971	G G	GATATATA others(415): Show GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGCTTT GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGCTTT GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0006 a0001c0073t0006	a0001c0073t0006g0096 a0001c0073t0006g0096	1	116	0.0086	422	c.73+ others(439): Show c.73+76166_73+76167insATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(415): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATAAATATATAA ATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGAT TTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATT TATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATA TATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATA AATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	389	0.0026	422	c.-51 others(433): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATAAATATATAAATAAATATATAAATATATAAATATAAATATATATT TATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTATA TTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATAT TTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATATT TTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTA TATATTATTATGTTATATATTATATATTATTATATTATATATATTATAAT ATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(415): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATA TAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	389	0.0026	422	c.-51 others(433): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTGTTATATATTATATATTATTATATTATATATATTATAAT ATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(415): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	322	0.0031	422	c.283 others(441): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTATACACATATATATGAATATATA TGTGTACACATATATATGAATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGG AGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGA GAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGAGGAGGGCAGGAGGAGGGGAGGGGGAGGAGGAGGAAGAGG AGGAGGAAGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	316	0.0032	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCTTCCTCCTCCTCTTC CTCCTCCTCCCCCTCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCCTCCT CCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTC CTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCAT CTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCT CCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTC TTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGAC CCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGAGGGGA GAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	316	0.0032	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCT CCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTC CTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCAT CTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCTC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGAGG GAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGAGGAA GAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGAGAA AATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGGGAG GAGGGGGAGGAGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	316	0.0032	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCTCCTCCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCT CCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	316	0.0032	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	316	0.0032	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KRTAP5-1_chr11_1579342_1590283	1581180	C C	CGTGGGGG others(415): Show CGTGGGGGTCCATATCTTGGGACCATGGGGGGTCTATATGTCAGGACCGT GGGGGTCTATATCTAAGGACCGTGGGGTTCTGTATCTCAGGACCGTGGGG GTCCATATCTAGGGACCGTGGGGGTCCATATCTAGGGACCGTGGGGGGTC CATATGTCAGGACCGTGGGGGTGTCTATATCTCGGGACCGTGGGGGTCCA TATCTAAGGACTGTGGGGGTCCATATCTTGGGACCATGGGGGGTCTATAT GTCAGGACCGTGGGGGTCTATATCTAAGGACCGTGGGGTTCTGTATCTCA GGACCGTGGGGGTCCATATCTAGGGACCGTGGGGGTCCATATCTAGGGAC CGTGGGGGGTCCATATGTCAGGACCGTGGGGGTGTCTATATCTCGGGACC GTGGGGGTCCATATCTAAGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	429	0.0023	422	c.32 others(433): Show c.3232_*3233insAGTCCTTAGATATGGACCCCCACGGTCCCGAGAT ATAGACACCCCCACGGTCCTGACATATGGACCCCCCACGGTCCCTAGATA TGGACCCCCACGGTCCCTAGATATGGACCCCCACGGTCCTGAGATACAGA ACCCCACGGTCCTTAGATATAGACCCCCACGGTCCTGACATATAGACCCC CCATGGTCCCAAGATATGGACCCCCACAGTCCTTAGATATGGACCCCCAC GGTCCCGAGATATAGACACCCCCACGGTCCTGACATATGGACCCCCCACG GTCCCTAGATATGGACCCCCACGGTCCCTAGATATGGACCCCCACGGTCC TGAGATACAGAACCCCACGGTCCTTAGATATAGACCCCCACGGTCCTGAC ATATAGACCCCCCATGGTCCCAAGATATGGACCCCCAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		3161		chr11	TogoVar
LHFPL3_chr7_104323603_104913561	104824288	A A	ATATAATA others(415): Show ATATAATATATATTATATATTATATATTATATAATATATTATATATATAA TATATTATATATTATATATTATATAATATATTATATATTATATATATTAT ATATTATATATTATATATTATATATATAATATATATTATATATTATATAT TATATATATTATATATATTATATATATTATATATAATATATATAATTGTA TATATAATATATAATATATAATATATATAATATATAATATATAATATATA ATATATAATATATATAATATATTATATATAATATATAATATATATAATAT ATTATATATAATATATAATATATAATATATATAATATATTATATATATAA TATATTATATAATATATTATATATATAATATATATTATATATTATATACA ATATATTATATATTATATACATT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	86	0.0116	422	c.683 others(441): Show c.683-81899_683-81898insTATAATATATATTATATATTATATAT TATATAATATATTATATATATAATATATTATATATTATATATTATATAAT ATATTATATATTATATATATTATATATTATATATTATATATTATATATAT AATATATATTATATATTATATATTATATATATTATATATATTATATATAT TATATATAATATATATAATTGTATATATAATATATAATATATAATATATA TAATATATAATATATAATATATAATATATAATATATATAATATATTATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATAATATATTATATATATAATATATTATATAATATATTATATATATA ATATATATTATATATTATATACAATATATTATATATTATATACATT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824294	T T	TATTATAT others(415): Show TATTATATATTATATATTATATAATATATTATATATATAATATATTATAT ATTATATATTATATAATATATTATATATTATATATATTATATATTATATA TTATATATTATATATATAATATATATTATATATTATATATTATATATATT ATATATATTATATATATTATATATAATATATATAATTGTATATATAATAT ATAATATATAATATATATAATATATAATATATAATATATAATATATAATA TATATAATATATTATATATAATATATAATATATAATATATATAATATATT ATATATAATATATAATATATAATATATATTATATATATAATATATTATAT AATATATTATATATATAATATATATTATATATTATATACAATATATTATA TATTATATACATTATATATTCTA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	86	0.0116	422	c.683 others(441): Show c.683-81893_683-81892insATTATATATTATATATTATATAATAT ATTATATATATAATATATTATATATTATATATTATATAATATATTATATA TTATATATATTATATATTATATATTATATATTATATATATAATATATATT ATATATTATATATTATATATATTATATATATTATATATATTATATATAAT ATATATAATTGTATATATAATATATAATATATAATATATATAATATATAA TATATAATATATAATATATAATATATATAATATATTATATATAATATATA ATATATAATATATATAATATATTATATATAATATATAATATATAATATAT ATTATATATATAATATATTATATAATATATTATATATATAATATATATTA TATATTATATACAATATATTATATATTATATACATTATATATTCTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(415): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	294	0.0034	422	c.153 others(441): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(415): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	294	0.0068	422	c.153 others(441): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCC GTGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAG ACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953515	C C	CCACCCCA others(415): Show CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT ACACGTCCACACAGACACCCACT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0019 a0019	a0019c0057 a0019c0057	a0019c0057t0001 a0019c0057t0001	a0019c0057t0001g0154 a0019c0057t0001g0154	1	294	0.0034	422	c.503 others(437): Show c.503+841_503+842insAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(415): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT GCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTC CTACACGTCCACACAGACACCCACCCCGCACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCAC CCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0085 a0001c0012t0001g0085	1	294	0.0034	422	c.503 others(437): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(415): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	191	0.0052	422	c.343 others(439): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATGAATCTATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)