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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1239165	CCCTCCCG others(384): Show CCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCC CTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCT CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTC CCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp2 NA18989.hp1 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0035 a0002c0002t0062 a0001c0001t0035 a0002c0002t0062	a0001c0001t0035g0079 a0002c0002t0062g0093 a0001c0001t0035g0079 a0002c0002t0062g0093	2	106	0.0189	-391	c.136 others(19): Show c.1361+2575_1361+2965del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1540891	TCCAGACC others(384): Show TCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGACCCCA CTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTCAGA CTCAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGT TCAGACCCTGGATCACAGCCGCCCAGACCCCACTCAGATGTAGTTCAGAC CCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCAGACCCTGGA TCACAGCCGTCCAGACCCCACTCACACTCAGTTCAGACCCTGGATCACAG CCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGCCC AGACCCCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 HG02083.hp1 others(1): Show HG02040.hp2 HG02080.hp1 HG02083.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0006 a0002c0002t0008 others(1): Show a0001c0001t0011 a0002c0002t0006 a0002c0002t0008 a0002c0002t0041	a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 others(1): Show a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 a0002c0002t0041g0074	4	106	0.0377	-391	c.101 others(21): Show c.101-162122_101-161732del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
CEP72_chr5_607340_658553	630086	ACCAGTCC others(384): Show ACCAGTCCTGGTGGGGTTCTGTCCAGTGCTGGGATTTGACCCAGTCCTGG TGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGT CCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGG ATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAG TCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGG TTCTGTCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGT GCCGGGATTTGACCCAAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTT GACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	-391	c.513 others(17): Show c.513-3654_513-3264del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	630115	TGGGATTT others(384): Show TGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGC CCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGT GGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTC CAGCGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGA TTTGACCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGGCCCAGT CCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAAGTCCTGGTGGGG TTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAGT GCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	91	0.0110	-391	c.513 others(17): Show c.513-3501_513-3111del		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
DAP_chr5_10674230_10766234	10730891	CTGAGAGC others(384): Show CTGAGAGCCCTAGTGAGGGGGAATCTTTCTCTACTGAGAGCCCTAGTGAG GGGGAATCTTTCTGTACTGAGAGCCATGGTGGGGGGAATCTTTCTCTATT GAGAGCCCTGGTGGGGGGGAATCTTTCTGTACTGAGAGCCCTGGTGGAGG GAATCTTTCTCTATTGAGAGCCCTAGTGGGGGGGAATCTTTCTGGACTGA GAGCCCTGGTGGGGGGAATCTTTCTCTACTGAGAGCCCTAGTGAGGGGGA ATCTTTCTCTACTGAGAGCCCTAGTGAGGGGGAATCTTTCTGTACTGAGA GCCCTGGTGGGGGGAATCTTTCTCTATTGAGAGCCCTAGTGGGGGGGAAT CTTTCTGTACTGAGAGCCCTGGTGGGGGGAATCTTTCTCTAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	372	0.0027	-391	c.152 others(19): Show c.152+16893_152+17283del		DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3						chr5	TogoVar
GSDMB_chr17_39899595_39923635	39902656	GACTTTAG others(384): Show GACTTTAGCTTAATTCCACAAGTTTGATATGTATATTTTTATTATCACTA AGTAGAAAAAAAAATCTTATAACTTCCATTAGGATTTCTCCCTTGACTTT TGAGTTACTTGACAGTATGTGCCTTAGGCCGGCATAGTGGCTCACTCCTA TAATTCCAACACTTCAGGAGGCTGAGGAGGGAGGACCACTTGAGCCTAAG AGTTCAACACCAGCCCTGGCAACATAGTGAGGCCCTGGCAACATAGTGAG ACCCCATCTCTACAAAAAATAAAAATAAAAAATTAGATGGGGCATGGTGG TGCGTACCTGTGGTCCCAGCTACTCAGGGGGCTGAAATGGGAGGATCACT TGAGCCCAGGAGGTAGAGGCTGCAGTGAGCCATGATTGCACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01261.hp1 HG01515.hp1 others(2): Show HG01074.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0013 a0005c0005t0001g0136 a0005c0005t0001g0013 a0005c0005t0001g0136	5	400	0.0125	-391	c.17 others(11): Show c.1765_*2155del		GSDMB	ENSG00000073605.19	transcript	ENST00000418519.6	protein_coding					1938		chr17	TogoVar
KLK4_chr19_50901351_50916395	50913505	TTTCTCTG others(384): Show TTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTGTGGCTCCGCA CCTGTCTCTGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTC TGTCTCTCTGTCTGTCTCCGCACCTGTCTGTCCATCTTTCTCTGTGTCTC TCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTCTCTGCACCTGTGTC TGTCCATCTTTCTCTGTGTCTCTCTCCTCCCATCTCTGTCTCTGTCTCTC TGTCTGTGTCTCCGCACCTGTGTGTCTGTCCATCTTTCTCTGTGTCTCTC TCTCCTCCCATCTCTGTCTCTGTCTCTCTGTCTGTGTCTCCGCACCTGTG TCTCTGTCCATCTTTCTCTGTGTCTCTCTCTCCTCCCATCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02896.hp2 others(6): Show HG02055.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG03486.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0003c0005 a0003c0007 a0004c0009	a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 a0002c0003t0004 a0003c0005t0002 a0003c0007t0010 a0004c0009t0003	a0001c0001t0002g0045 a0001c0001t0002g0094 a0001c0001t0002g0113 others(6): Show a0001c0001t0002g0045 a0001c0001t0002g0094 a0001c0001t0002g0113 a0001c0001t0003g0127 a0001c0006t0003g0129 a0002c0003t0004g0099 a0003c0005t0002g0116 a0003c0007t0010g0063 a0004c0009t0003g0055	9	414	0.0217	-391	c.-25 others(11): Show c.-2569_-2179del		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2111		chr19	TogoVar
MAN1B1_chr9_137081985_137114183	137102262	TAGGTCGG others(384): Show TAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTG GTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATT CACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGG CGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGG TGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACAC ACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCAC GCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGC GTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18978.hp2 NA19084.hp1 HG03225.hp2 NA18978.hp2 NA19084.hp1	a0007 a0016 a0007 a0016	a0007c0011 a0016c0028 a0007c0011 a0016c0028	a0007c0011t0002 a0016c0028t0002 a0007c0011t0002 a0016c0028t0002	a0007c0011t0002g0040 a0016c0028t0002g0139 a0007c0011t0002g0040 a0016c0028t0002g0139	3	404	0.0074	-391	c.125 others(18): Show c.1254+617_1254+1007del		MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr9	TogoVar
MFHAS1_chr8_8778354_8898630	8822453	GACCAAGT others(384): Show GACCAAGTCAGGGGGGATTGAGATGGAGACAGGGACCCAAGTCAGGGGGA CTGAGATGGGGACAGGGATCACGTCAGGGGGATTGAGATGGAGACAGTGA CCCAAGTCAGGGGGCCTGAGGTGAGGACAGGGACCAAATCAGGGGGAATG AGATGGAGACAGGGACCCAAGTCAGGGGGACTGAGATGGAGACAGGGACC CAAGTCAGGGGGACTGAGACGGGGACAGGGACCAAGTCAGGGGGACTGAG ATGGGGGCAGGGACCAAGTCAGGGAGACTGAGATGAGGACAGGGAACCAA GTCAGGGGGACTGAGATGGTGACAGGGAACCAAGCCAGGGGGATTTAGAA GGGGACAGGGACCAAGTCAGGGGGACTGACACAGGGACAGGA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02895.hp1 HG03471.hp2 others(4): Show HG02698.hp2 HG02895.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03710.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0015 a0001c0003t0032 a0001c0003t0038 others(2): Show a0001c0001t0015 a0001c0003t0032 a0001c0003t0038 a0001c0004t0019 a0001c0010t0003	a0001c0001t0015g0212 a0001c0001t0015g0213 a0001c0001t0015g0290 others(4): Show a0001c0001t0015g0212 a0001c0001t0015g0213 a0001c0001t0015g0290 a0001c0003t0032g0023 a0001c0003t0038g0022 a0001c0004t0019g0005 a0001c0010t0003g0321	7	324	0.0216	-391	c.299 others(21): Show c.2999-25353_2999-24963del		MFHAS1	ENSG00000147324.11	transcript	ENST00000276282.7	protein_coding	1/2						chr8	TogoVar
NOC4L_chr12_132139457_132157468	132149624	CCACACCC others(384): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19065.hp1 HG02451.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0273 a0002c0002t0001g0035 a0001c0001t0001g0273 a0002c0002t0001g0035	2	294	0.0068	-391	c.901 others(15): Show c.901+766_902-930del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NPIPB11_chr16_29376310_29411711	29381893	CCCCCGCA others(384): Show CCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTG GAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGA TTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGT CTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGA GCTGACGTTTGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGC GGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGG TGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGTTTGGAAGGTGTCTTGA GATTATCATCCGCTGAGGGTGGAAGCGGAACCCACAGACGCT	C C	frameshift_variant frameshift_variant	HIGH	NA18944.hp2 NA18944.hp2	a0053 a0053	a0053c0155 a0053c0155	a0053c0155t0001 a0053c0155t0001	a0053c0155t0001g0116 a0053c0155t0001g0116	1	428	0.0023	-391	c.264 others(9): Show c.2648_3038del	p.Glu others(5): Show p.Glu883fs	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5785/6369	2648/3486	883/1161			chr16	TogoVar
RABL6_chr9_136802948_136846187	136833007	ACTGGGTC others(384): Show ACTGGGTCTGGGGGACCTGAACCTCCTCGCCCTGGGCTGCCCCAGCTGGG TCTGGGGACCTGAACCTCCTCGCCCTGGGCTGCCCCGCCTGGGTCTGGGG ACCTGAACCTCCTCGCCCTGGGCTGCCCCGCCTGGGTCTGGGGACCTGAA CCTCCTCGCCCTGGGCTGCCCCACCTGGGTCTGGGGACCTGAACCTCCTC GCCCTGGGCTGCCCCAGCTGGGTCTGGGGGACCTGAACCTCCTCGCCCTG GGCTGCCCCAGCTGGGTCTGGGGGACCTGAACCTCCTCGCCCTGGGCTGC CCCAGCTGGATCTGGGGGACCTGAACCTCCTCGCCCTGGGCTGCCCCGCC TGGGTCTGGGGGACCTGAACCTCCTTGCCTGGGCTGCCCCGC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	330	0.0030	-391	c.705 others(16): Show c.705+694_705+1084del		RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
SULT4A1_chr22_43819509_43867513	43834499	CCCCCACC others(384): Show CCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTT CCCGCAGCCACACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGCGTCCCT GTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGC GGCCCTGAGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCC CACCGCTGCCCTGAGCTTCCCGCACCCACACCGCGTCCCTGTGCTTCCCG CGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGGCCCTGAGC TTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCC CTGAGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCG	C C	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA19072.hp2 HG02738.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0234 a0001c0001t0002g0223 a0001c0001t0002g0234	2	386	0.0052	-391	c.509 others(16): Show c.509-1156_509-766del		SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6						chr22	TogoVar
TMEM63C_chr14_77176798_77264495	77220887	GCCTCCCA others(384): Show GCCTCCCACTCACGCCCCGCCTCCCACTCACGCCTCCTCTCCCACCCACG CCTCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCACC CACGCCCCCTCCCACTCTCGCCTCCCCTCCCACTCTCGCCTCCCCTCCCA CCCACGCCCCCTCACACTCACGCCTCCCCTCCCACTCTCGCCTCCCCTCC CACTCATGCCCTGCCTCCCACTCACGCCTCCTCTCTCACTTACACCCCAC CTCCCACTCACGCCTCCCCTCCCACTCATGCCCCACCTCCCACTCACACC TCCTCTCTCATTCACACCCCGCCTCCCACTCACGCCTCCCCTCCCACTCA CGCCCCACCTCCCACTCACGCCCCGCCTCCCACTCACGCCCC	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19043.hp1 NA18962.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0005t0004 a0001c0001t0007 a0001c0005t0004	a0001c0001t0007g0138 a0001c0005t0004g0183 a0001c0001t0007g0138 a0001c0005t0004g0183	2	322	0.0062	-391	c.312 others(16): Show c.312+816_312+1206del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77220912	ACTCACGC others(384): Show ACTCACGCCTCCTCTCCCACCCACGCCTCCCCTCCCACTCTCGCCTCCCC TCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCCCACTCTCGCCTCC CCTCCCACTCTCGCCTCCCCTCCCACCCACGCCCCCTCACACTCACGCCT CCCCTCCCACTCTCGCCTCCCCTCCCACTCATGCCCTGCCTCCCACTCAC GCCTCCTCTCTCACTTACACCCCACCTCCCACTCACGCCTCCCCTCCCAC TCATGCCCCACCTCCCACTCACACCTCCTCTCTCATTCACACCCCGCCTC CCACTCACGCCTCCCCTCCCACTCACGCCCCACCTCCCACTCACGCCCCG CCTCCCACTCACGCCCCCCTCCCACTCACGCCTTCCCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp2 NA20129.hp1 HG00741.hp2 HG02055.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0003t0002g0091 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0003t0002g0091	3	322	0.0093	-391	c.312 others(16): Show c.312+829_312+1219del		TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr14	TogoVar
TPGS1_chr19_502497_524654	523206	GGGGGCTC others(384): Show GGGGGCTCAGCATTTCCGGTGAGCACGGGCCGAGGGCTCAGCAGCAATTC CGGTGAGCACGGGCCGGGGGCTCAGCATTTCAGTGAGCACGGGCCGGGGG CTCGGCATTTCCAGTGAGCACGGGCCGGGTGCTCCGCAGCATTTCCGGTG AGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGC TCAGCATTTCCGGTGAGCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGA GCACGGGCCGGGGGCTCAGCAGCATTTCCGGTGAGCACGGGCCGGGGGCT CAGCATTTCCAGTGAGCACGGGCCGGGGGCTCCGCAGCATTTCCGGTGAG CACGGGCCGGGGGCTCAGCGGCATTTCCGGTGAGCACGGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	344	0.0029	-391	c.37 others(11): Show c.3784_*4174del		TPGS1	ENSG00000141933.9	transcript	ENST00000359315.6	protein_coding					3553		chr19	TogoVar
TUSC3_chr8_15535263_15771638	15638894	GGCTTCAG others(384): Show GGCTTCAGTGATGATGATCATGTGTTGATGCTAGATCACGTGATGTTCAG AGCTTCAGTGATGATGATCATGTGTCGATGCTAGATCACGTGATGTTCAA GGCTTCAGTGATGATGATCATGTGTCGATGCTAGATCACGTGATGTTCAG GGCTCCAGTGATGATCATGTGCTGATGCTCGATCACGTGATGTTCAGGGC TTCAGTGATGATGATCATGTGTCGATGCTAGATCACGTGATGTTCAGGGC TTCAGTGATGATCATGTGTCGATGCTAGATCACGTGATGTTCAGGGCTTC AGTGATGATGATCATGTGTTGATGCTAGATCACGTGATGTTCAGCGCTTC AGTGATGATCATGTGTCGATGCTAGATCACATGATGTTCAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG00673.hp2 others(14): Show HG00423.hp2 HG00597.hp2 HG00673.hp2 HG01433.hp1 HG02165.hp2 HG04199.hp1 NA18942.hp1 NA18956.hp2 NA18969.hp2 NA18980.hp1 NA18994.hp2 NA19004.hp2 NA19009.hp2 NA19056.hp1 NA19065.hp1 NA19079.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0034	a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 others(14): Show a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0264 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0003g0029 a0001c0001t0004g0271 a0001c0001t0004g0288 a0001c0001t0004g0295 a0001c0001t0034g0182	17	372	0.0457	-391	c.309 others(19): Show c.309-11753_309-11363del		TUSC3	ENSG00000104723.21	transcript	ENST00000503731.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF516_chr18_76352682_76500242	76393480	GGTCAGGT others(384): Show GGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTC AGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGT GGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGG GGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAA GGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCA GGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTG GTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCA GGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18995.hp2 NA18983.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0049 a0001c0001t0022g0050 a0001c0001t0022g0049 a0001c0001t0022g0050	2	346	0.0058	-391	c.181 others(21): Show c.1811-13568_1811-13178del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288757	CCGTGTCC others(383): Show CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGT TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0108 a0001c0016t0002g0108	1	295	0.0034	-390	c.44 others(11): Show c.4417_*4806del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3633		chr1	TogoVar
AGO2_chr8_140515156_140640633	140622894	GGGGTCTC others(383): Show GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCT CTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT GGGGTCTCCTCTTGGGGTAATAATCCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01978.hp1 HG02004.hp2 others(1): Show HG01257.hp2 HG01978.hp1 HG02004.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0279 a0001c0004t0005g0276 a0001c0004t0005g0278 others(1): Show a0001c0001t0001g0279 a0001c0004t0005g0276 a0001c0004t0005g0278 a0001c0004t0005g0280	4	338	0.0118	-390	c.22+ others(17): Show c.22+12201_22+12590del		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
ALLC_chr2_3653200_3707671	3671968	CGAGGTCC others(383): Show CGAGGTCCTCTGGCTCTATTTAGATCCGAGGTCCTCTGGCTCTAGTTAGA TCCGAGGTCCTCTGGCTCTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTA GATGGGAGGTCCTCTGGCTGTGGTTAGATCGGAGGTCCTCTGGCTCTAGT TAGATTGGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGGTCTG GTTAGATGGGAGGTCCCCAGGCTCTGATTAGATGGGAGGTCCTCTGGTTC TGGTTAGATAGGAGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGGC TCTGGTTAGATGGGAGGTCCTCTGGCTCTGGTTAGATCGGAAGTCCTCTG GCTCTGGTTAGATAGGAGGTCCTCTGGCTCTGGTTAGATGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00735.hp2 others(29): Show HG00408.hp1 HG00423.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01516.hp1 HG01517.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02155.hp1 HG02258.hp1 HG02523.hp2 HG02738.hp2 HG03130.hp1 HG03579.hp1 NA18944.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18969.hp1 NA18971.hp2 NA18995.hp1 NA19007.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002	a0001c0001t0002g0213 a0002c0002t0002g0199 a0002c0002t0002g0200 others(28): Show a0001c0001t0002g0213 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0211 a0003c0003t0002g0010 a0003c0003t0002g0018 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0138 a0003c0003t0002g0152 a0003c0003t0002g0183 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0192 a0004c0004t0002g0197 a0004c0004t0002g0198 a0004c0004t0002g0206	32	274	0.1168	-390	c.33+ others(14): Show c.33+828_33+1217del		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGEF11_chr1_156929840_157050742	157049068	CATTCTCT others(383): Show CATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGT GTTAGCCATGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGG CCATGAGTGCATTCTTAAGTATTTTCCTCAAGCATCTCCTTGAACACTCC ACTTTGAAGATTATGAGGGTGGCTTTAGTAAGATAGAGTTCCCTGAAGTT AGTTGGCCATTTAAGTAAACTGCAAGTCTCAGGTTAAAAAACAAAATAGA TTAGATTGTGTCCTAGACAGACTGGGTTGTAGGAATCTGGAGGCAGCTGG TGATCAATGGAAAGAGCTAGACTAGACTAGGAGTCCGGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0231 a0003c0003t0003g0231	1	362	0.0028	-390	c.-51 others(11): Show c.-5128_-4739del		ARHGEF11	ENSG00000132694.19	transcript	ENST00000368194.8	protein_coding					3327		chr1	TogoVar
ASPG_chr14_104080700_104120582	104097813	CTACGTTA others(383): Show CTACGTTAGAGATACGTATGGAGGTTCTGCGTTAGAGATGCATATGGAGG TTCTACGTTAGAGATACGTATGGAGGTTCTGCGTTAGAGATGCGTATGGA GGTTCTGCGTTAGAGATGCGTATGGAGGTTCTGTGTTAGAGATGCGTATG GAGGTTCTGCGTTAGAGATGCGTATGGAGGTTCTGCGTTAGAGATGCGTA TGGAGGTTCTGCGTTAGAGATGCGTATGGAGGTTTTGCGTTAGAGATGCG TATGGAGGTTTTGCGTTAGAGATGCGTATGGAGGTTCTGCGTTAGAGATG CGTATGGAGGTTCTCCGTTAGAGATACGTATGGAGGTTCTGCGTTAGAGA TACGTATGGAGGTTCTGCGTTAGAGATGCGTATGGAGGTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0244 a0001c0001t0011g0244	1	368	0.0027	-390	c.513 others(15): Show c.513+202_513+591del		ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
BOP1_chr8_144257045_144296438	144281136	AGGCCTTC others(383): Show AGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTTGGCCTTCCCTCAGTTTAATACCAGGTCTTC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18993.hp2 HG00558.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0281 a0001c0001t0001g0288	2	398	0.0050	-390	c.310 others(17): Show c.310-5222_310-4833del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BRD9_chr5_858741_897801	897411	TCAGTCAG others(383): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATG GGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAA CAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG02148.hp1 others(11): Show HG01175.hp1 HG01433.hp2 HG02148.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG03195.hp2 HG03453.hp2 HG03516.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 others(2): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0002c0003t0010	a0001c0001t0001g0074 a0001c0002t0004g0011 a0001c0002t0004g0052 others(7): Show a0001c0001t0001g0074 a0001c0002t0004g0011 a0001c0002t0004g0052 a0001c0002t0006g0046 a0001c0002t0006g0178 a0001c0002t0006g0179 a0001c0002t0006g0180 a0001c0002t0009g0177 a0002c0003t0010g0049 a0002c0003t0010g0051	14	364	0.0385	-390	c.-51 others(11): Show c.-5144_-4755del		BRD9	ENSG00000028310.18	transcript	ENST00000467963.6	protein_coding					4611		chr5	TogoVar
C1orf159_chr1_1076823_1121089	1077301	CGGGAGGC others(383): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0288 a0001c0001t0003g0288	1	326	0.0031	-390	c.52 others(11): Show c.5202_*5591del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4521		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077450	GGGGGAGG others(383): Show GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCT GAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTG CCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGG GGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCT GAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTG GGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGG GGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	326	0.0031	-390	c.50 others(11): Show c.5053_*5442del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4372		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077613	TCTATGGG others(383): Show TCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGGG GGAGGCTGAGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGA CTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGA CTCCGTTGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0024 a0001c0002t0005g0024	1	326	0.0031	-390	c.48 others(11): Show c.4890_*5279del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					4209		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077977	CGGGGACT others(383): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCC GTTGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGGGGGGACGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGCGTCTA TGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	326	0.0031	-390	c.45 others(11): Show c.4526_*4915del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3845		chr1	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(383): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03516.hp1 others(2): Show HG02922.hp2 HG02965.hp2 HG03516.hp1 HG03831.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0002 a0001c0017t0003 a0002c0002t0001 a0001c0001t0002 a0001c0017t0003 a0002c0002t0001	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0017t0003g0014 others(2): Show a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0017t0003g0014 a0001c0017t0003g0015 a0002c0002t0001g0242	5	378	0.0132	-390	c.274 others(19): Show c.2747+3301_2747+3690del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
EHMT1_chr9_137614005_137841127	137780826	TGACGCCG others(383): Show TGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCG GGATGTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGT GGTGATGACGGCATCACTGAGATGTGTGGTGATGACGCTGAGACGTGTGG TGATGACGCTGGGATGTGTGGTGATGACGCCGGGATGTGTGGTGATGACG CCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGGGATG TGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGATGTGTGGTGA TGACGGCATCACTGAGACGTGTGGTGATGACGCTGAGACGTGTGGTGATG ACGCTGGGACGTGTGGTGACGACGCTGAGACGTGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0066 a0001c0005t0001g0066	1	170	0.0059	-390	c.227 others(19): Show c.2275+1115_2276-1070del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
ERC1_chr12_986223_1500931	1085884	ATTATTAT others(383): Show ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0076 a0002c0002t0076	a0002c0002t0076g0146 a0002c0002t0076g0146	1	162	0.0062	-390	c.108 others(19): Show c.1086+2369_1086+2758del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1088895	GTTGTTGT others(383): Show GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC ATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTATTGT TGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCAT TATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGC CTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGA TTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG02572.hp2 others(1): Show HG01257.hp1 HG01346.hp1 HG02572.hp2 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 others(1): Show a0001c0001t0040 a0001c0001t0049 a0001c0001t0058 a0002c0002t0005	a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 others(1): Show a0001c0001t0040g0150 a0001c0001t0049g0157 a0001c0001t0058g0141 a0002c0002t0005g0133	4	162	0.0247	-390	c.108 others(19): Show c.1086+5325_1086+5714del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090248	GTTATTAT others(383): Show GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTGTTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0051 a0002c0006t0051	a0002c0006t0051g0081 a0002c0006t0051g0081	1	162	0.0062	-390	c.108 others(19): Show c.1086+6733_1086+7122del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090367	ATGCCTGG others(383): Show ATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGAGATT ACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGTTGTT GAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATT ATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCC TGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGG CAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAG TGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTATTAT TGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03516.hp1 HG02109.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0067 a0002c0002t0047 a0001c0001t0067 a0002c0002t0047	a0001c0001t0067g0121 a0002c0002t0047g0104 a0001c0001t0067g0121 a0002c0002t0047g0104	2	162	0.0124	-390	c.108 others(19): Show c.1086+6810_1086+7199del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXN3_chr14_89151177_89422233	89362223	CAGCACCA others(383): Show CAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCT CCTCCACCACCACCACCTCCACCACCACCACCACCACCTCCAGCACCACC TCTACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCTCCAC CACCACCTCCACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCT CCACCACCACCACCACCACCTCCAGCACCAGCTCCACCACCTCCTCCTCC ACCACCACCACCACCACCACCACCATCTCCACCACCACCACCACCATCTC TACGACCACCACCACCACCATCTCCACCACCACCTCCACCACCACCACCA CCACCATCTCTACGACCACCACCACCACCACCATCTCTACG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	230	0.0044	-390	c.544 others(19): Show c.544-11805_544-11416del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
HACL1_chr3_15555699_15606569	15592628	ACGCACAT others(383): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGC ACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACAT GTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTAT ACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGC GTGTATACACATGTACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02970.hp2 HG01081.hp1 HG01884.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0188	3	428	0.0070	-390	c.228 others(16): Show c.228-1338_228-949del		HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16						chr3	TogoVar
PIK3C2G_chr12_18256518_18653416	18369420	ATATAATT others(383): Show ATATAATTGACATATGATCATATAACGATCGTATAATTGACATATGATCA TATAACGATCGTATAATTGACATATGATCATATAACGATCGTATAATTGA CATACGATCATATAACGATCGTATAATTGACATATGATCATATAACGATC GTATAATTGACATATGATCATATAACGATCGTATAATTGACATATGATCA TATAACGATCGTATAATTGACATATGATCATATAACGGTCGTATAATTGA CATATGATCATATAACGGTCGTATAATTGACATATGATCATATAACGGTC GTATAATTGACATATGATCATATAACGGTCGTATAATTGACATATGATCA TATAACGATCGTATAATTGACATATGATCATATAACGATCG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	1	176	0.0057	-390	c.174 others(19): Show c.1749-1656_1749-1267del		PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	12/32					INFO_REALIGN_3_PRIME	chr12	TogoVar
POLE_chr12_132618762_132692342	132684116	GTATCACA others(383): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGT ACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATAT CACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCAT TGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATT CACAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCA CACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18942.hp1 HG00438.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0062 a0001c0002t0002g0196 a0001c0001t0001g0062 a0001c0002t0002g0196	2	292	0.0069	-390	c.62+ others(15): Show c.62+2748_63-2838del		POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	1/48						chr12	TogoVar
PPM1E_chr17_58750854_58990179	58762966	ATGTTGAT others(383): Show ATGTTGATCCATGTAGATCTAGTTCTTTCATTGTAGCTACTGTATATCAT TCTATAGTATGATTATACTATGATTTATCCAATCTCCTATTGATGGACAT GTCAGTTGTTTTTAATTTTTACACATATATTAAGTTAATACTGACTGCTC TAATGGATACATCCCCAAATCTCAAAGGCTTAACATAATGTTAGTTTATT TCTTGCTTATATAGAGTTCCTTCAGTGGAGAAGGAGGAGCTGTGTTCTGT GAAGTCATTAAGGAACCCAGGCTGATGGAGACTCTGTCCTTTTTAACCTG TGGTTTCCAACGTTGCTCTAGGCATCAACATTTATCCAGCAAATATAAGG GAGTAGAGAATGGTGTTTGAGGTTTTTAAGGGCCAGTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0153 a0001c0001t0002g0120 a0001c0001t0002g0153	2	312	0.0064	-390	c.464 others(17): Show c.464+6506_464+6895del		PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6						chr17	TogoVar
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(383): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG02004.hp2 others(4): Show HG00673.hp2 HG01074.hp2 HG02004.hp2 HG02622.hp2 HG06807.hp1 NA18962.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 others(4): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0016 a0001c0001t0077 a0001c0001t0083 a0001c0001t0088 a0001c0001t0103	a0001c0001t0004g0070 a0001c0001t0013g0108 a0001c0001t0016g0023 others(4): Show a0001c0001t0004g0070 a0001c0001t0013g0108 a0001c0001t0016g0023 a0001c0001t0077g0059 a0001c0001t0083g0081 a0001c0001t0088g0085 a0001c0001t0103g0026	7	254	0.0276	-390	c.292 others(19): Show c.292-25022_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151603243	ACGCTCCG others(383): Show ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGCACCCGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCATCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGCACCCGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGCAC CCGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02615.hp1 others(6): Show HG02109.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp1 HG02896.hp1 HG02965.hp1 HG03098.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0033	a0001c0001t0002g0083 a0001c0001t0002g0139 a0001c0001t0002g0154 others(6): Show a0001c0001t0002g0083 a0001c0001t0002g0139 a0001c0001t0002g0154 a0001c0001t0004g0238 a0001c0001t0005g0227 a0001c0001t0009g0005 a0001c0001t0010g0132 a0001c0001t0016g0250 a0001c0001t0033g0252	9	252	0.0357	-390	c.755 others(17): Show c.755-8179_755-7790del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799079	GTGGTGGT others(383): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0119 a0001c0002t0090g0119	1	178	0.0056	-390	c.185 others(19): Show c.1855-4779_1855-4390del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PXMP2_chr12_132682587_132709985	132684116	GTATCACA others(383): Show GTATCACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTA CCATTGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCT CATTCACAGAGAGCTACCATTGACTGGTTACTGTATCACACCGTCCCAGT ACTCCACACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTATAT CACACCGTCCCAGTACTCCACACAGGCTCTCATTCACAGAGAGCTACCAT TGACTGGTTACTGTATCACACCGTCCCAGTACTCCACACAGGCTCTCATT CACAGAGCTACCATTGACTGGTTACTATATCACACCGTCCCAGTACTCCA CACAGGCTCTCATTCACAGAGCTACCATTGACTGGTTACTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	350	0.0029	-390	c.-35 others(11): Show c.-3554_-3165del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding					3470		chr12	TogoVar
PXMP2_chr12_132682587_132709985	132694146	TTAGTGAG others(383): Show TTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCTAGTTAGAGAG CTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGC TCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCT TGCCAGTTAGTTAGTGAGCTCCCTTAGTCAGTTAGTTAGTGAGCGCCCTT GCCAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTAGT TAGTGAGCGCCCTTGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTG AGCTCCCTTAGCCAGTTAGTGAGCTCCCTTAGCCAGTTAGTTAGTGAGCG CCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04199.hp2 HG02004.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0022 a0001c0002t0002g0002 a0001c0002t0002g0022	2	350	0.0057	-390	c.237 others(17): Show c.237-1729_237-1340del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
REV1_chr2_99395477_99495017	99411666	CCCAAAGT others(383): Show CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCATAGGGCCCCTTTCT TTCTTTTCTATGCCATCACTGACTTGTCGAAAATTCTTTTGTAACTATGT TAATAAGTTCTGCTAATAAAATGTGTGTTCCAACACTGTGCTTACAGCCC AAACATCATCTATCTCCATGCCTAAGGAAACAAAACTCCTGAGGTCCACA GTGTAGGCACAGAGGGTAATTAACTCATCACATTTCAAATCCTTATGATA TGGTGTTGTTTGTACATACAAATTCAAGACATATCCAGCCGGGCGCAGTG GCTCACATCTGTAATCCCAGCACTTTAGGAGGCTGAGGCGGGCAGATCAC AAGGTCAGGAGTTTGAGACCAGCCTGGCCAACACGGTGAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0115 a0008c0011t0001g0115	1	324	0.0031	-390	c.217 others(17): Show c.2172+675_2173-800del		REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	13/22						chr2	TogoVar
RIPOR3_chr20_50581108_50696542	50621606	CATTGCTA others(383): Show CATTGCTAACCTGGGGAACATATACCTGGGACTTCCAGCCTCCTCCTTTT GCCACCATGTAGGGAAACTGGGGCCAACACAGAGAGGAACAAACAGAGTC AGACCAAATCTCCATGACAGTGAGTTCCTGGATCTAGCTATGTCTAAAGC TGAACCTGCCCGTGGACTTTGCAGTTACATGAGCCAACTGGCTCTCTTTT TTAGCTTAAGCCAGCTGGAGTTGGGAGTGTGGACTGGATGATCCTAAAAA CTGCCTTTCAGTGGTGATGGCTGGGTCCCTCAACATTTAGAGATGTAGCA GCATCTCAAGACTGATTATAGGAGTACGAGGCCAGGGCACCCTCATCACA GCACAGAGCTGGTTTCCCTGGCATCTAAGCCTCTTCTCAGG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	280	0.0036	-390	c.123 others(17): Show c.123-1864_123-1475del		RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	2/21						chr20	TogoVar
RNF223_chr1_1065967_1079306	1076803	GCTACGGG others(383): Show GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAG GCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGG GGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGA CTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAG GCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGG GGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG02280.hp1 others(7): Show HG01123.hp1 HG02258.hp2 HG02280.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03579.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 a0002c0002t0005 a0002c0002t0012 a0002c0002t0019	a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 others(1): Show a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 a0002c0002t0019g0047	10	324	0.0309	-390	c.-31 others(11): Show c.-3187_-2798del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2498		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076807	CGGGGACT others(383): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAGGCTGAGGCTA CGGGGACTCCGTGCGGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTG GCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGTCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0008 a0002c0002t0005g0008	1	324	0.0031	-390	c.-31 others(11): Show c.-3191_-2802del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2502		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(383): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGTCTATGGGGACTCCGTGCCGAGAGGCTG AGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGG GACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0004	1	324	0.0031	-390	c.-36 others(11): Show c.-3685_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2996		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)