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
NHLRC4_chr16_562005_574495	571283	GGCGCCCG others(248): Show GGCGCCCGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAACCATGGCTAGC CTGGTGCCCGTGTGTGTGTGTGTGTCTGGCTAGCCTGGGACCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGTTAG CCTGTGTGTGTGTGTGTGTGTTTGTGTCTGGCTAGCCTGTGTGTGTCTGG TTAGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-255	c.28 others(11): Show c.2865_*3119del	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1789		chr16	TogoVar
NXN_chr17_794310_984776	952303	GGGGGGGC others(248): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	242	0.0041	-255	c.360 others(19): Show c.360+26761_360+27015del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952367	GGGGGGGC others(248): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGT	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19009.hp2 NA18612.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0105 a0001c0001t0019g0004 a0001c0001t0002g0105 a0001c0001t0019g0004	2	242	0.0083	-255	c.360 others(19): Show c.360+26697_360+26951del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PIGQ_chr16_564968_589109	571283	GGCGCCCG others(248): Show GGCGCCCGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAACCATGGCTAGC CTGGTGCCCGTGTGTGTGTGTGTGTCTGGCTAGCCTGGGACCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGTTAG CCTGTGTGTGTGTGTGTGTGTTTGTGTCTGGCTAGCCTGTGTGTGTCTGG TTAGCCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCGCC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0329 a0001c0004t0004g0329	1	408	0.0025	-255	c.-10 others(17): Show c.-10+1188_-10+1442del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PKP3_chr11_389209_409908	390478	CGTCCTGA others(248): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGA CCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCC CTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGACCCCAGGAGAACCCC CGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCCCTTCCCCAGAGGAGC GCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02622.hp1 others(5): Show HG01243.hp2 HG02258.hp1 HG02622.hp1 HG02717.hp1 HG02897.hp1 HG03130.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0008 a0001c0005 a0001c0007 a0001c0008	a0001c0005t0001 a0001c0007t0001 a0001c0008t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0001	a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0007t0001g0003 others(5): Show a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0007t0001g0003 a0001c0007t0001g0004 a0001c0007t0001g0005 a0001c0007t0001g0006 a0001c0008t0001g0192 a0001c0008t0001g0193	8	216	0.0370	-255	c.-38 others(11): Show c.-3814_-3560del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165463	AATGCTCT others(248): Show AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGGGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGATGTGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0039 a0039	a0039c0062 a0039c0062	a0039c0062t0010 a0039c0062t0010	a0039c0062t0010g0165 a0039c0062t0010g0165	1	210	0.0048	-255	c.347 others(19): Show c.3476+1916_3476+2170del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PMEPA1_chr20_57643396_57715015	57660508	ACACACAC others(248): Show ACACACACGTCAACAACGCTACATACTCCAACACTCCTACACACACGTCA ACACCAACACATGACCCAACACTCCTACACAAATAACACCCCAACACGTA CCCCTAACACTCCTACACACACAACACCCCAACACTACATACTCCAACAC TCCTACACACACATCAACACCAACACATGACCCAACACTCCTACACAAAT AACACCCCAACACGTACCCCTAACACTCCTACACACACAACACCCCAACA CTCCTC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02630.hp2 others(4): Show HG01109.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG03130.hp1 HG03130.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0011 a0002c0004t0030 others(2): Show a0002c0004t0008 a0002c0004t0011 a0002c0004t0030 a0002c0004t0050 a0002c0004t0057	a0002c0004t0008g0120 a0002c0004t0011g0029 a0002c0004t0011g0064 others(4): Show a0002c0004t0008g0120 a0002c0004t0011g0029 a0002c0004t0011g0064 a0002c0004t0011g0201 a0002c0004t0030g0024 a0002c0004t0050g0188 a0002c0004t0057g0333	7	360	0.0194	-255	c.110 others(16): Show c.110-1066_110-812del	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PRKCA_chr17_66297613_66815743	66799184	GTGGTGGT others(248): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	178	0.0056	-255	c.185 others(19): Show c.1855-4644_1855-4390del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314673	GAGGTGGT others(248): Show GAGGTGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGAGGT AATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGTGATGG TGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGTGAAGGTGATGGTG GAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGG TGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG02895.hp2 others(4): Show HG01884.hp2 HG02723.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 NA21309.hp1	a0005 a0010 a0020 others(4): Show a0005 a0010 a0020 a0038 a0039 a0040 a0089	a0005c0105 a0010c0138 a0020c0031 others(4): Show a0005c0105 a0010c0138 a0020c0031 a0038c0146 a0039c0147 a0040c0104 a0089c0115	a0005c0105t0021 a0010c0138t0012 a0020c0031t0012 others(4): Show a0005c0105t0021 a0010c0138t0012 a0020c0031t0012 a0038c0146t0048 a0039c0147t0045 a0040c0104t0008 a0089c0115t0006	a0005c0105t0021g0270 a0010c0138t0012g0005 a0020c0031t0012g0019 others(4): Show a0005c0105t0021g0270 a0010c0138t0012g0005 a0020c0031t0012g0019 a0038c0146t0048g0172 a0039c0147t0045g0175 a0040c0104t0008g0023 a0089c0115t0006g0035	7	292	0.0240	-255	c.281 others(19): Show c.2811+1512_2811+1766del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934178	GGGAGGCG others(248): Show GGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGT GGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTT ACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0004 a0014c0027t0004	a0014c0027t0004g0231 a0014c0027t0004g0231	1	434	0.0023	-255	c.843 others(17): Show c.843-1591_843-1337del	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	260175	TCAGAGCA others(248): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCGTCAGAGCATTACCGTGTGA GCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACA GCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTC CGCCTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCAT TACCGTGTGAGCTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCC TCCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0006 a0001c0009t0002g0006	1	266	0.0038	-255	c.37 others(11): Show c.3756_*4010del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3094		chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071059	CATCACAC others(248): Show CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCC CCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACA CGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	118	0.0085	-255	c.224 others(19): Show c.2241+2319_2241+2573del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMOC2_chr6_168436184_168672992	168592652	TGAGCTCC others(248): Show TGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGG CCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATGGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp1 others(29): Show HG00099.hp1 HG00280.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01361.hp2 HG02056.hp1 HG02129.hp1 HG02630.hp2 HG02738.hp1 HG02922.hp1 HG03139.hp1 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG04184.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18971.hp1 NA18973.hp1 NA19012.hp2 NA19065.hp1 NA19080.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0002t0008 a0001c0003t0001 a0001c0003t0004 a0001c0005t0001 a0003c0006t0012	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 others(29): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0003g0086 a0001c0001t0009g0161 a0001c0002t0002g0003 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0008g0045 a0001c0003t0001g0155 a0001c0003t0004g0100 a0001c0003t0004g0101 a0001c0003t0004g0102 a0001c0005t0001g0126 a0003c0006t0012g0018	32	180	0.1778	-255	c.638 others(17): Show c.638-5863_638-5609del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS3_chr10_104636290_105270242	105091232	CTTCCCTC others(248): Show CTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCT TGCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTG CTTCCTTCCTTCGTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCCT CCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCGTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCCTCCTTC CTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01106.hp1 HG01167.hp2 others(4): Show HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG02895.hp1 HG06807.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0023 a0001c0001t0003g0079 a0001c0001t0004g0028 others(4): Show a0001c0001t0003g0023 a0001c0001t0003g0079 a0001c0001t0004g0028 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0045 a0001c0001t0004g0094	7	134	0.0522	-255	c.109 others(19): Show c.1093+1395_1093+1649del	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
STARD13_chr13_33098137_33290755	33177768	AAAGGAAG others(248): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAA GGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(62): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG02257.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp2 NA18951.hp2 NA18959.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19070.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0006 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0002c0003 a0002c0010 a0004c0009 a0006c0017 a0007c0021 a0009c0024 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0026 a0001c0002t0002 a0001c0002t0003 a0001c0002t0022 a0001c0004t0005 a0001c0004t0009 a0001c0005t0003 a0001c0005t0005 a0001c0005t0007 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0013t0001 a0001c0013t0028 a0002c0003t0003 a0002c0010t0006 a0004c0009t0002 a0006c0017t0004 a0007c0021t0003 a0009c0024t0002 a0011c0028t0003	a0001c0001t0001g0198 a0001c0001t0001g0234 a0001c0001t0002g0081 others(61): Show a0001c0001t0001g0198 a0001c0001t0001g0234 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0003g0041 a0001c0001t0003g0205 a0001c0001t0019g0275 a0001c0001t0026g0296 a0001c0002t0002g0008 a0001c0002t0002g0090 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0216 a0001c0002t0002g0237 a0001c0002t0002g0265 a0001c0002t0003g0039 a0001c0002t0022g0082 a0001c0004t0005g0172 a0001c0004t0009g0181 a0001c0005t0003g0166 a0001c0005t0005g0167 a0001c0005t0005g0182 a0001c0005t0005g0247 a0001c0005t0007g0001 a0001c0005t0007g0002 a0001c0005t0007g0003 a0001c0007t0001g0057 a0001c0007t0002g0196 a0001c0008t0001g0060 a0001c0013t0001g0180 a0001c0013t0028g0300 a0002c0003t0003g0016 a0002c0003t0003g0018 a0002c0003t0003g0021 a0002c0003t0003g0024 a0002c0003t0003g0035 a0002c0003t0003g0077 a0002c0003t0003g0116 a0002c0003t0003g0127 a0002c0003t0003g0195 a0002c0003t0003g0208 a0002c0003t0003g0239 a0002c0003t0003g0283 a0002c0010t0006g0176 a0002c0010t0006g0177 a0004c0009t0002g0065 a0004c0009t0002g0190 a0004c0009t0002g0191 a0004c0009t0002g0201 a0006c0017t0004g0178 a0007c0021t0003g0255 a0009c0024t0002g0274 a0011c0028t0003g0240	65	302	0.2152	-255	c.170 others(19): Show c.170-10401_170-10147del	STARD13	ENSG00000133121.21	transcript	ENST00000336934.10	protein_coding	1/13			chr13	TogoVar
SYTL3_chr6_158645054_158769871	158704814	AGTGACAG others(248): Show AGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCA GGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGC AGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAGGG CAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGGG GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCGG GGCAGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0022 a0004c0003t0001g0022	1	292	0.0034	-255	c.395 others(17): Show c.395-2400_395-2146del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYTL3_chr6_158645054_158769871	158704830	GTAAGGCC others(248): Show GTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGC TGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGG CTGTAAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGG GCTGTAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAG GGCTGTAAGGCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGA GGGCTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG00733.hp2 others(39): Show HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA18995.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0005 others(4): Show a0001c0001 a0002c0002 a0002c0005 a0003c0004 a0003c0006 a0004c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 a0003c0004t0001 a0003c0004t0005 a0003c0006t0001 a0004c0003t0001 a0007c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 others(39): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0172 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0229 a0001c0001t0001g0262 a0001c0001t0002g0004 a0002c0002t0001g0016 a0002c0002t0001g0131 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0225 a0002c0005t0001g0124 a0002c0005t0001g0253 a0003c0004t0001g0070 a0003c0004t0001g0073 a0003c0004t0001g0202 a0003c0004t0001g0220 a0003c0004t0005g0033 a0003c0006t0001g0230 a0004c0003t0001g0200 a0004c0003t0001g0272 a0007c0009t0001g0204	42	292	0.1438	-255	c.395 others(17): Show c.395-2373_395-2119del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM63C_chr14_77176798_77264495	77235480	GGGGGGTC others(248): Show GGGGGGTCTGGGGAGACTGTGATGGGTGGCGGTTATGGGGAGACTGCAAT GGGTGGGAGGATCTGGGGAGACTGTGATGGGTGGGAGGGAGCAGGGAGCC CTAGGAGACTGTGATGGGTGGGGAAGGTGTCCAGGGGGACTGCAGTGGGT GGGGGTCTGGGGAGACTGTGGTGGGTGGGGGGTCTGGGGAGACTGTGGTG GGTGGCGGGTATGGGGAGACTGTGATGGGTGGGGGTATGGGGAGACTGTG ATGGCT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01169.hp1 HG00738.hp2 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218	3	322	0.0093	-255	c.543 others(16): Show c.543-1137_543-883del	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TNK2_chr3_195858364_195913551	195880977	GCCCCCAG others(248): Show GCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACAC CACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAAC ACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCTGTAAC ACCCGC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0168 a0001c0003t0001g0168	1	372	0.0027	-255	c.887 others(16): Show c.887+819_887+1073del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TUBGCP2_chr10_133273635_133313872	133292041	CCCTCCGT others(248): Show CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCC CCATGT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	284	0.0035	-255	c.121 others(17): Show c.1214+203_1214+457del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VEGFC_chr4_176678538_176797922	176770416	TTGTGGAA others(248): Show TTGTGGAAACAGTTTAAGACACTAGTCACTAGCATGATTTTCTAAATATG CTTAGCAGGTTTATTTGGCTACATATGAAGTCTCTTTTAAAACCTGACAT ATTATTTCCAGTGACCTGAATAGGATATTTATCTGAGAAAGCAGACCAGA ATAAAGCCTCTATACAGACTTTCCAGATAGAGAATAAAAATAGTATCTAA TATATTTTCGACTTTGAAATTATCTATTTCTGTTATAGTGTCCTCTGGAT CACTGC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp2 HG02109.hp2 others(6): Show HG00642.hp1 HG01884.hp2 HG02109.hp2 HG02622.hp2 HG02809.hp1 HG02965.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0008 a0001c0001t0001 a0003c0003t0008	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0003c0003t0008g0017	9	224	0.0402	-255	c.147 others(19): Show c.147+21494_147+21748del	VEGFC	ENSG00000150630.4	transcript	ENST00000618562.2	protein_coding	1/6			chr4	TogoVar
VIPR2_chr7_159023175_159149867	159077244	CCTGTTAT others(248): Show CCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAGTGT GCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTATTATAGTG TACCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTACTACAGT GTGCCTGTTATCAGATTTTAGCCCTGTTCAATGTCTTTGAGGTATTATAG TATGCCTGTTATCAGATTCTAGCCCTGTTCAATGTCTTTGAGGTATTATA GTGTAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0012 a0001c0013 a0001c0012 a0001c0013	a0001c0012t0008 a0001c0013t0007 a0001c0012t0008 a0001c0013t0007	a0001c0012t0008g0074 a0001c0013t0007g0073 a0001c0012t0008g0074 a0001c0013t0007g0073	2	336	0.0060	-255	c.358 others(19): Show c.358-18921_358-18667del	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WRAP73_chr1_3625770_3655103	3643577	AATGGGGT others(248): Show AATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCGG ACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCCG GACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCCC GGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCCC CGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCGCTGAGCC CCGGAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01943.hp2 HG00639.hp2 HG01123.hp1 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0178 a0001c0001t0002g0043 a0001c0001t0002g0178	3	382	0.0079	-255	c.339 others(17): Show c.339+2834_339+3088del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
WRAP73_chr1_3625770_3655103	3644166	CAGCGGCC others(248): Show CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GATCCAGTGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCAGAAGG GGACCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0082 a0004c0008t0001g0082	1	382	0.0026	-255	c.339 others(17): Show c.339+2245_339+2499del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ZFPM1_chr16_88448280_88542031	88501076	ATGCGGGG others(248): Show ATGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GATGCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGGGTG TGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTGGGC CTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18967.hp1 NA18966.hp1 NA18967.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0010 a0004c0004t0006g0110 a0004c0004t0006g0010 a0004c0004t0006g0110	2	318	0.0063	-255	c.268 others(19): Show c.268+11931_268+12185del	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF516_chr18_76352682_76500242	76393835	GGGCAGGG others(248): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19011.hp1 NA19010.hp1 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0041 a0005c0008t0007 a0001c0001t0041 a0005c0008t0007	a0001c0001t0041g0149 a0005c0008t0007g0154 a0001c0001t0041g0149 a0005c0008t0007g0154	2	346	0.0058	-255	c.181 others(21): Show c.1811-13787_1811-13533del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393867	AGGTAGTC others(248): Show AGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0123 a0001c0027t0123	a0001c0027t0123g0153 a0001c0027t0123g0153	1	346	0.0029	-255	c.181 others(21): Show c.1811-13819_1811-13565del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393978	GGGGAAGG others(248): Show GGGGAAGGCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGG TCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGG GAAGCC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19086.hp1 NA19056.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0001 a0001c0001t0040	a0001c0001t0001g0083 a0001c0001t0040g0341 a0001c0001t0001g0083 a0001c0001t0040g0341	2	346	0.0058	-255	c.181 others(21): Show c.1811-13930_1811-13676del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF679_chr7_64223474_64271931	64229191	GGTATTAC others(248): Show GGTATTACAGTATTACAGAGAGTGTCAACACAGCCCAATACAAAGTTGCG TACAGTATAATAGGGCATTATACTGTACGCATGAGTGTTGTGATTTTTTT GTGACCTTTGTACAGTTAGAAAACCCAGAACCATCCCCATTTTCCCAAGC GTAACAGTGAGACAACGTCTCTTCTATTAGCTTGGTCCAAGTATAAGAGA CAACACTGTGCCTGTGAGTTAGTCAAGAAATGACTTCCCCTTTGACCTGT GGCCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0161 a0010c0010t0001g0161	1	422	0.0024	-255	c.-91 others(15): Show c.-91+540_-91+794del	ZNF679	ENSG00000197123.9	transcript	ENST00000421025.3	protein_coding	1/4			chr7	TogoVar
ABHD6_chr3_58232792_58299734	58289880	CCCTCCCG others(247): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGAGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01891.hp2 others(7): Show HG01109.hp2 HG01891.hp1 HG01891.hp2 HG02572.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG03130.hp2 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 others(7): Show a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0218 a0001c0001t0005g0226 a0001c0001t0005g0229 a0001c0001t0005g0264 a0001c0001t0005g0276 a0001c0001t0005g0292 a0001c0001t0017g0029	10	302	0.0331	-254	c.838 others(17): Show c.838-3694_838-3441del	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179313523	CGCATTCA others(247): Show CGCATTCACACTCATGCACACACACACATCGAGACAGAGGAGGGCCTGGC CAGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCACACTCATGCA CACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGT CAGCAGAGAGGACGCACACGCATTCACACTCGTGCACACACACACTCACA CCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACG CACAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp1 NA18946.hp1 others(2): Show HG00609.hp1 HG01175.hp1 NA18946.hp1 NA18946.hp2 NA19070.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0025	a0002c0002 a0003c0003 a0004c0006 others(1): Show a0002c0002 a0003c0003 a0004c0006 a0025c0091	a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 others(2): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0004c0006t0001 a0025c0091t0002	a0002c0002t0001g0092 a0003c0003t0001g0246 a0003c0003t0004g0267 others(2): Show a0002c0002t0001g0092 a0003c0003t0001g0246 a0003c0003t0004g0267 a0004c0006t0001g0265 a0025c0091t0002g0218	5	276	0.0181	-254	c.534 others(19): Show c.534+29990_534+30243del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1540738	GTAGTTCA others(247): Show GTAGTTCAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTT CAGACCCTGGATCACAGCCATCCAGACCCCACTCAGATGTAGTTCAGACC CTGGATCCGTCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAG CCGTCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCCGTCCAGACC CCACTCAGACGCAGTTCAGACCCTGGATCACAGCCGTCCAGACTCCACTC AGACT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0029 a0002c0004t0005g0029	1	106	0.0094	-254	c.101 others(21): Show c.101-161832_101-161579del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541472	CAGTTCAG others(247): Show CAGTTCAGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTC GGACCCTGGATCACAGCCGTCCAGACCCCACTCAGACGCAGTTCGGACCC TGGATCACAGCCGCCCAGACCCCACTCAGACGCAGTTCAGACCCTGGATC CGTCCAGACCCCACTCAGACGCAGTTCGGACCCTGGATCACAGCCGCCCA GACCCCACTCAGACGCAGTTCAGACCCTGGATCCGTCCAGACCCCACTCA GACGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01884.hp1 others(6): Show HG00408.hp2 HG00639.hp1 HG01884.hp1 HG02109.hp1 HG02683.hp1 HG02735.hp1 HG02970.hp1 HG02970.hp2 HG04184.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0010 a0001c0001 a0002c0002 a0009c0010	a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 others(6): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 a0001c0001t0059 a0002c0002t0002 a0002c0002t0007 a0002c0002t0038 a0002c0002t0046 a0009c0010t0006	a0001c0001t0009g0055 a0001c0001t0018g0027 a0001c0001t0022g0015 others(6): Show a0001c0001t0009g0055 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0059g0092 a0002c0002t0002g0075 a0002c0002t0007g0001 a0002c0002t0038g0048 a0002c0002t0046g0056 a0009c0010t0006g0014	9	106	0.0849	-254	c.101 others(21): Show c.101-162566_101-162313del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
AKAP17A_chrX_1586604_1607520	1596601	CCCTCCTA others(247): Show CCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCC TCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATCCCTCCCACCCTCC TAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCTCCCACCCTCCTAG TGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCCATCCCTCCCGCTG TGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCTCCATCCCTCCTGC CGTGT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03139.hp1 HG03704.hp2 HG02970.hp2 HG03139.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0013 a0002c0003t0001 a0002c0003t0021 a0001c0005t0013 a0002c0003t0001 a0002c0003t0021	a0001c0005t0013g0058 a0002c0003t0001g0121 a0002c0003t0021g0017 a0001c0005t0013g0058 a0002c0003t0001g0121 a0002c0003t0021g0017	3	151	0.0199	-254	c.911 others(17): Show c.911+1101_911+1354del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1596638	ATCCCTCC others(247): Show ATCCCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCCATC CCTCCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTTCTCCGTCCCT CCCACCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTCCTCTTCCTCCTCC ATCCCTCCCGCTGTGCCCTCCTAGTGAGGCGGATTCGTCCTCTTCCTCCT CCATCCCTCCTGCCGTGTCCTCCTAGTGAGGTGGATTCCTCCTCCTCCTT CTCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0070 a0002c0003t0004g0070	1	151	0.0066	-254	c.911 others(17): Show c.911+1130_911+1383del	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALDH16A1_chr19_49448225_49476050	49463019	GGGCCTGG others(247): Show GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGCCCGGATTCCT GGGTCTGAGGGAGGAGGGGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGTCCAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGC CTGGACTCCTGGGTCTGAGGGAGGAGAGGCTGGGGGTCCAGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp2 HG02055.hp1 others(14): Show HG00733.hp2 HG01261.hp2 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03516.hp1 NA18906.hp1 NA19030.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0008	a0003c0004 a0004c0008 a0006c0011 others(1): Show a0003c0004 a0004c0008 a0006c0011 a0008c0021	a0003c0004t0002 a0004c0008t0008 a0004c0008t0012 others(2): Show a0003c0004t0002 a0004c0008t0008 a0004c0008t0012 a0006c0011t0009 a0008c0021t0003	a0003c0004t0002g0027 a0003c0004t0002g0125 a0003c0004t0002g0126 others(9): Show a0003c0004t0002g0027 a0003c0004t0002g0125 a0003c0004t0002g0126 a0003c0004t0002g0127 a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0224 a0004c0008t0008g0008 a0004c0008t0012g0124 a0006c0011t0009g0024 a0006c0011t0009g0080 a0008c0021t0003g0108	17	342	0.0497	-254	c.109 others(17): Show c.1098+267_1098+520del	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC146_chr7_77117615_77300204	77241225	TTTTTTGT others(247): Show TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGAACGG TTTCGATCTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCATGAGCCATCGCGCCCGGCCACGTTGACAGTTTTAAGA GTGCCAGTCAGGTATTCTATAGAGCATTTCTCAGTTTGGAATTTTTCTCA TATTTAGGCCAGAGTTAGGTGTTTTGGAGGAGAATACCACAAAGGTGAAG CAGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03491.hp1 HG03516.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA19003.hp1 NA19004.hp2 NA19030.hp2 NA19060.hp1 NA19068.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0006 a0001c0008 others(9): Show a0001c0001 a0001c0006 a0001c0008 a0001c0021 a0001c0031 a0003c0026 a0004c0023 a0007c0024 a0009c0025 a0010c0032 a0011c0027 a0012c0030	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0008t0002 a0001c0008t0003 a0001c0021t0002 a0001c0031t0001 a0003c0026t0001 a0004c0023t0001 a0007c0024t0001 a0009c0025t0002 a0010c0032t0001 a0011c0027t0001 a0012c0030t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 others(85): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0001t0002g0048 a0001c0001t0002g0061 a0001c0001t0002g0065 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0202 a0001c0006t0001g0029 a0001c0006t0001g0047 a0001c0006t0001g0063 a0001c0006t0001g0082 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0105 a0001c0006t0001g0107 a0001c0006t0001g0112 a0001c0006t0001g0119 a0001c0006t0001g0187 a0001c0008t0002g0046 a0001c0008t0002g0066 a0001c0008t0002g0081 a0001c0008t0002g0083 a0001c0008t0002g0114 a0001c0008t0002g0115 a0001c0008t0002g0124 a0001c0008t0002g0129 a0001c0008t0003g0201 a0001c0021t0002g0052 a0001c0021t0002g0108 a0001c0031t0001g0059 a0003c0026t0001g0009 a0004c0023t0001g0126 a0004c0023t0001g0195 a0007c0024t0001g0060 a0007c0024t0001g0067 a0009c0025t0002g0142 a0010c0032t0001g0106 a0011c0027t0001g0043 a0012c0030t0002g0102	88	248	0.3548	-254	c.240 others(15): Show c.240-464_240-211del	CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC187_chr9_136244973_136309094	136251924	TGGGAAGA others(247): Show TGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGAC CGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCC GCCCACCCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCCGCACAGCCG GCCGCCCACCCCGTCCACCAGGGGAAGGTCCAGGCGACCGTCCCGCAGAG CCGGCGCCCACCCTGTCCACCAGGGGAAGAGCCGGCCGCCCACCCGGTCC ACCCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0075 a0008c0007t0075	a0008c0007t0075g0296 a0008c0007t0075g0296	1	400	0.0025	-254	c.14 others(11): Show c.1416_*1669del	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1416		chr9	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310355	TCAGCCCC others(247): Show TCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTG CCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG02486.hp1 others(17): Show HG01496.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0007 a0001c0001 a0002c0004 a0005c0007	a0001c0001t0002 a0001c0001t0003 a0002c0004t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0004t0001 a0005c0007t0003	a0001c0001t0002g0083 a0001c0001t0003g0017 a0001c0001t0003g0018 others(12): Show a0001c0001t0002g0083 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0046 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0002c0004t0001g0287 a0002c0004t0001g0288 a0005c0007t0003g0295	20	418	0.0479	-254	c.94 others(10): Show c.941_*1194del	CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding		1014		chr14	TogoVar
CDH4_chr20_61247261_61945617	61945288	ACTGTCTG others(247): Show ACTGTCTGCACTGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCG ACCATCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCG ACTGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCG ACTGTCTGCACCGTGGCCGCCCTTTCTGACTGATGATAAGGAACATTGCG ACTGTCTGCACCGTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTGCA ACCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03225.hp2 HG03453.hp2 HG01109.hp1 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0048 a0001c0001t0001 a0001c0001t0011 a0001c0001t0048	a0001c0001t0001g0012 a0001c0001t0011g0005 a0001c0001t0048g0085 a0001c0001t0001g0012 a0001c0001t0011g0005 a0001c0001t0048g0085	3	106	0.0283	-254	c.83 others(11): Show c.8346_*8599del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4672		chr20	TogoVar
CEP78_chr9_78231075_78284690	78283680	AGCTGACT others(247): Show AGCTGACTTCAGGAGTCTCACTGACTTCAGGAGTGAAACCACAAAGCTTC GCAGTGAGTGTTACAACTCTTAAAGGTGGCTCACCCAGAGTTGTTTGTTC CTCCCGGTAGGTTCATGGTCTCGCTGACTTCAGGAATGAAGCCGCAGACC CTCGCAGTGAGTGTTACAGCTCTTAAAGATGGTGTGTCCGGAGTTTGTTC CTTCAGCTGTTCAGATGTGTCTGGAGTTTCTTCCTTCCAGTGGGTTCATG GTCTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01952.hp1 others(6): Show HG01261.hp1 HG01358.hp1 HG01952.hp1 HG02273.hp1 HG02300.hp1 HG02922.hp1 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0001t0039 a0001c0001t0040 others(3): Show a0001c0001t0013 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0003t0047	a0001c0001t0013g0006 a0001c0001t0013g0106 a0001c0001t0039g0107 others(4): Show a0001c0001t0013g0006 a0001c0001t0013g0106 a0001c0001t0039g0107 a0001c0001t0040g0006 a0001c0001t0041g0108 a0001c0001t0042g0006 a0001c0003t0047g0209	9	340	0.0265	-254	c.12 others(13): Show c.12830_*13083del	CEP78	ENSG00000148019.14	transcript	ENST00000643273.2	protein_coding		3991		chr9	TogoVar
CRIM1_chr2_36350778_36556135	36505307	AAATGACA others(247): Show AAATGACATGTAACAAAACCAGTTTTACCAGAGGCTAATTGATATAAACA AGAGTTAAGTTCCTACCATATATTTCTGGTCACGAAAACATCACCAAACT TCTAAATAAAGACCTAAAACATTTCTAATAGTAACAATTAAAGTAAGCAT GAGTTATATATACATTTAAGAAAGGTTAACAAAAAACAAGTACAATGATG ATTCCCCATTTTTAATGAATCAGTGAGTGATAGTGGTTGTAGTGGTGCTG TGTTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0005 others(6): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0019 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0002c0003 a0002c0007 a0005c0017 a0006c0014 a0007c0016 a0008c0018 a0009c0009 a0010c0026 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(109): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0048 a0001c0001t0051 a0001c0001t0054 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0085 a0001c0001t0087 a0001c0001t0091 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0101 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0030 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0041 a0001c0002t0044 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0089 a0001c0002t0090 a0001c0002t0092 a0001c0002t0098 a0001c0002t0102 a0001c0002t0106 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0023 a0001c0004t0028 a0001c0004t0033 a0001c0006t0006 a0001c0006t0007 a0001c0006t0062 a0001c0010t0043 a0001c0011t0003 a0001c0012t0061 a0001c0015t0083 a0001c0019t0078 a0001c0020t0084 a0001c0023t0094 a0001c0024t0076 a0001c0025t0046 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0002c0003t0009 a0002c0003t0020 a0002c0003t0022 a0002c0003t0030 a0002c0007t0002 a0005c0017t0006 a0006c0014t0057 a0007c0016t0007 a0008c0018t0001 a0009c0009t0041 a0010c0026t0031 a0011c0027t0002	a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0183 others(228): Show a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0183 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0251 a0001c0001t0002g0301 a0001c0001t0003g0114 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0167 a0001c0001t0003g0303 a0001c0001t0003g0317 a0001c0001t0005g0029 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0006g0090 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0133 a0001c0001t0006g0174 a0001c0001t0007g0117 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0134 a0001c0001t0007g0179 a0001c0001t0008g0210 a0001c0001t0008g0224 a0001c0001t0009g0088 a0001c0001t0010g0193 a0001c0001t0010g0200 a0001c0001t0010g0201 a0001c0001t0012g0093 a0001c0001t0014g0030 a0001c0001t0014g0241 a0001c0001t0015g0199 a0001c0001t0015g0213 a0001c0001t0015g0215 a0001c0001t0015g0216 a0001c0001t0016g0025 a0001c0001t0016g0040 a0001c0001t0016g0052 a0001c0001t0016g0203 a0001c0001t0016g0207 a0001c0001t0017g0217 a0001c0001t0017g0220 a0001c0001t0017g0221 a0001c0001t0017g0222 a0001c0001t0018g0138 a0001c0001t0018g0302 a0001c0001t0019g0211 a0001c0001t0019g0291 a0001c0001t0021g0060 a0001c0001t0021g0190 a0001c0001t0021g0314 a0001c0001t0022g0164 a0001c0001t0022g0280 a0001c0001t0024g0230 a0001c0001t0026g0307 a0001c0001t0027g0180 a0001c0001t0027g0186 a0001c0001t0029g0092 a0001c0001t0031g0162 a0001c0001t0032g0083 a0001c0001t0032g0094 a0001c0001t0037g0209 a0001c0001t0037g0219 a0001c0001t0038g0194 a0001c0001t0038g0231 a0001c0001t0040g0235 a0001c0001t0042g0015 a0001c0001t0042g0016 a0001c0001t0048g0112 a0001c0001t0051g0119 a0001c0001t0054g0304 a0001c0001t0072g0313 a0001c0001t0074g0168 a0001c0001t0075g0218 a0001c0001t0077g0202 a0001c0001t0079g0206 a0001c0001t0085g0237 a0001c0001t0087g0212 a0001c0001t0091g0063 a0001c0001t0093g0285 a0001c0001t0095g0238 a0001c0001t0096g0075 a0001c0001t0101g0013 a0001c0002t0001g0004 a0001c0002t0001g0077 a0001c0002t0001g0111 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0127 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0157 a0001c0002t0001g0163 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0182 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0002g0146 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0299 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0003g0125 a0001c0002t0003g0260 a0001c0002t0004g0156 a0001c0002t0004g0319 a0001c0002t0005g0018 a0001c0002t0005g0022 a0001c0002t0005g0037 a0001c0002t0005g0045 a0001c0002t0005g0047 a0001c0002t0005g0204 a0001c0002t0005g0208 a0001c0002t0005g0236 a0001c0002t0005g0244 a0001c0002t0007g0001 a0001c0002t0007g0115 a0001c0002t0009g0252 a0001c0002t0009g0263 a0001c0002t0012g0253 a0001c0002t0012g0256 a0001c0002t0012g0261 a0001c0002t0012g0262 a0001c0002t0012g0295 a0001c0002t0014g0023 a0001c0002t0014g0027 a0001c0002t0014g0068 a0001c0002t0015g0024 a0001c0002t0019g0038 a0001c0002t0019g0044 a0001c0002t0030g0084 a0001c0002t0034g0046 a0001c0002t0034g0318 a0001c0002t0035g0097 a0001c0002t0035g0267 a0001c0002t0036g0320 a0001c0002t0041g0191 a0001c0002t0044g0008 a0001c0002t0055g0136 a0001c0002t0056g0165 a0001c0002t0058g0315 a0001c0002t0059g0105 a0001c0002t0060g0160 a0001c0002t0063g0257 a0001c0002t0064g0061 a0001c0002t0065g0158 a0001c0002t0067g0255 a0001c0002t0068g0161 a0001c0002t0069g0011 a0001c0002t0070g0258 a0001c0002t0071g0248 a0001c0002t0089g0195 a0001c0002t0090g0031 a0001c0002t0092g0196 a0001c0002t0098g0021 a0001c0002t0102g0072 a0001c0002t0106g0101 a0001c0004t0001g0113 a0001c0004t0003g0099 a0001c0004t0010g0067 a0001c0004t0023g0036 a0001c0004t0023g0065 a0001c0004t0023g0240 a0001c0004t0028g0078 a0001c0004t0028g0079 a0001c0004t0033g0289 a0001c0004t0033g0294 a0001c0006t0006g0019 a0001c0006t0007g0020 a0001c0006t0062g0058 a0001c0010t0043g0141 a0001c0011t0003g0312 a0001c0012t0061g0135 a0001c0015t0083g0242 a0001c0019t0078g0232 a0001c0020t0084g0243 a0001c0023t0094g0245 a0001c0024t0076g0076 a0001c0025t0046g0059 a0002c0003t0001g0290 a0002c0003t0002g0270 a0002c0003t0002g0272 a0002c0003t0002g0277 a0002c0003t0002g0284 a0002c0003t0002g0293 a0002c0003t0002g0296 a0002c0003t0002g0297 a0002c0003t0002g0321 a0002c0003t0006g0323 a0002c0003t0009g0269 a0002c0003t0009g0283 a0002c0003t0009g0298 a0002c0003t0020g0246 a0002c0003t0022g0247 a0002c0003t0030g0286 a0002c0007t0002g0274 a0002c0007t0002g0275 a0002c0007t0002g0276 a0005c0017t0006g0128 a0006c0014t0057g0181 a0007c0016t0007g0121 a0008c0018t0001g0166 a0009c0009t0041g0035 a0010c0026t0031g0322 a0011c0027t0002g0278	232	324	0.7161	-254	c.150 others(19): Show c.1502-4418_1502-4165del	CRIM1	ENSG00000150938.10	transcript	ENST00000280527.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71734385	TATACCCC others(247): Show TATACCCCATATATATGTGTATCCCATATACGTATACCCCATATATATGT ATAGCCCATATACGTATACCCCATATATATGTATATCCCATATACGTATA CCCCATATATATGTATATCCCATATACGTATACCCCATATATATGTATAT CCCATATACGTATACCCCATATATATGTATATCCCATATACGTATACCCC ATATATATGTATATCCCATATACGTATACCCCATATATATGTATATCCCA TATAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0033 a0001c0001t0011g0033	1	102	0.0098	-254	c.849 others(19): Show c.849-52729_849-52476del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
ENTPD6_chr20_25190712_25233075	25217746	CCCTCCTC others(247): Show CCCTCCTCCTTCATCCTTTAATGTGTCTACAGTATACGCACATTCACCCA GACCTCTCTCTCCTCCTCCTCCTCCCACCTCCTCTGGTCCTTCTCCTTCA TCCTTTATCTATAGTATACGCACATTAACCCAGACCTCTCTCTCCTCCTC CTCCTCCCGCCTCCTCTGTCCTCCTCCTTCATCCTTTAATGTGTCTACAG TATACACACATTAACCCAGACCTCTCTCTCCTCCTCCTCCTCCCACCTCC TCTGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0035 a0002c0002t0006g0035	2	380	0.0053	-254	c.878 others(15): Show c.878+241_879-475del	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
EP400_chr12_131944942_132085460	131995613	TGAATGAA others(247): Show TGAATGAATCCACCACAGCTTGACTGAATGTGCCGTTCATCCTGAGTGTG TGAGAACTTCACGTGAATGAATCCACCACAGCTTGACTGAATGTGCCGTT CATCCTGAGTGTGTGAGAACTTCATGTGAACGAATCCCACCACAGCTTGA CTGAATGTACCGTTCATCTTGAGTGTGTGAGAACTTCATGTGAACGAATC CCACCGCAGCTTGACTGAATGTGCCGTTCATCCTGAGTGTGTGAGAACTT CATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0004 a0006 a0004 a0006	a0004c0023 a0006c0024 a0004c0023 a0006c0024	a0004c0023t0001 a0006c0024t0013 a0004c0023t0001 a0006c0024t0013	a0004c0023t0001g0151 a0006c0024t0013g0152 a0004c0023t0001g0151 a0006c0024t0013g0152	2	208	0.0096	-254	c.282 others(17): Show c.2827+661_2827+914del	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXOC3L4_chr14_103089725_103115559	103109216	CCCTCCCT others(247): Show CCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTC TCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTC TCCCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0001 a0007c0018t0001	a0007c0018t0001g0350 a0007c0018t0001g0350	1	404	0.0025	-254	c.197 others(17): Show c.1976+721_1977-540del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
F7_chr13_113100791_113125685	113107939	TGTGGGTG others(247): Show TGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGGAG GTGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCGGG AGTGTGGGTGTCCCGGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCCGG AGGTGAGGGTGTCCCGGGAGTGTGGGTGTTCCGGAGGCGAGGGTGTCCCG GGAGTGTGGGTGTCCCAGGGGCGTGGGTGTCCCGGGAGTGTGGGTGTTCC GGAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(87): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01243.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03139.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0009t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0002g0223 a0001c0001t0004g0234 a0001c0001t0017g0233 a0001c0001t0019g0214 a0001c0001t0023g0200 a0001c0009t0001g0001 a0002c0002t0003g0195 a0002c0002t0003g0198	90	400	0.2250	-254	c.64+ others(15): Show c.64+2035_64+2288del	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
GDF2_chr10_47317454_47332588	47329331	TGGTGTGT others(247): Show TGGTGTGTGCACACTGGGGTGAGTGACGTGGTGTGTGCACACTGAGGGGG GTGAGTGATGTAGTGTGTGCACACTGGGGTGAGTGATGCGGTGTGTGCAC CCTGGGGTGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATGCGGTGT GTGCACCCTGGGATGAGTGATGCGGTGTGTGCACACTGGGGTGAGTGATG TGTGTGCACACTGAGGGGGGTGAGTGATGTGTGTGCACACTGGGATGAGT GATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0001 a0001c0001t0023g0001	1	424	0.0024	-254	c.35 others(11): Show c.3548_*3801del	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		1744		chr10	TogoVar
GINS3_chr16_58387471_58411147	58396197	ACCAGTAG others(247): Show ACCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGTGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTACCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTC	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0130 a0001c0001t0013g0130	1	434	0.0023	-254	c.186 others(17): Show c.186+3450_186+3703del	GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HACL1_chr3_15555699_15606569	15592549	CATGTGTG others(247): Show CATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG TACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATA CACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCG TGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATG TGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATGTACG CACAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18995.hp1 NA18960.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0077 a0001c0001t0001g0134	2	428	0.0047	-254	c.228 others(16): Show c.228-1123_228-870del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)