Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXN3_chr14_89151177_89422233	89361726	ACCACCAC others(272): Show ACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCACCACCAC CTCCAGCACCACCACCTCCACCACCACCACCTCCACCACCACCTCCACCA CCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCC AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCAC CTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCTCCACCACTACCACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0222 a0001c0001t0016g0222	1	230	0.0044	-279	c.544 others(19): Show c.544-11197_544-10919del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GZMA_chr5_55097646_55115252	55105983	AAAATAAA others(272): Show AAAATAAAATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAA TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp1 HG01517.hp2 others(15): Show HG01261.hp2 HG01515.hp1 HG01517.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 NA18906.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0001c0001t0001 a0001c0002t0001 a0004c0005t0001	a0001c0001t0001g0020 a0001c0002t0001g0007 a0004c0005t0001g0012 a0001c0001t0001g0020 a0001c0002t0001g0007 a0004c0005t0001g0012	18	390	0.0462	-279	c.215 others(15): Show c.215+378_215+656del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
HIC1_chr17_2050103_2068241	2052729	CCTGGGCT others(272): Show CCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGG CTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTC CCTTACAGAAGCAATGAGGGCTTGAGGATGGGGTTAGGGGCCTGGGCTGG GGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGATG GGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAA GCAATGAGGGCTTGAGGATGGGGTTAGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-279	c.-25 others(11): Show c.-2529_-2251del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2373		chr17	TogoVar
IRAK4_chr12_43753951_43794541	43790706	ATGGTATG others(272): Show ATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACC ATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTAT GGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAA TCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGT TATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACATT GAAAATCACCTAGTTTGTGATGCATTAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG02080.hp1 others(19): Show HG00408.hp2 HG00621.hp1 HG02080.hp1 HG02165.hp1 NA18612.hp2 NA18941.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18960.hp2 NA18974.hp1 NA18975.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19063.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0028	a0001c0001t0001g0114 a0001c0001t0002g0002 a0001c0001t0002g0025 others(7): Show a0001c0001t0001g0114 a0001c0001t0002g0002 a0001c0001t0002g0025 a0001c0001t0002g0106 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0025 a0001c0001t0004g0032 a0001c0001t0004g0100 a0001c0001t0028g0105	22	354	0.0622	-279	c.39 others(11): Show c.3992_*4270del	IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding		1166		chr12	TogoVar
IRAK4_chr12_43753951_43794541	43790947	AATCACAT others(272): Show AATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTGTGGTATGGTTT GTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACA TTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTC GTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACATTGAAAA TCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTCGTTAGTA TGAAGATTACAGGTATAAGCTACCATGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03209.hp2 HG06807.hp1 others(5): Show HG02559.hp1 HG03209.hp2 HG06807.hp1 NA18990.hp2 NA19005.hp1 NA19065.hp1 NA19076.hp1 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0005 a0001c0001 a0002c0002 a0007c0005	a0001c0001t0001 a0002c0002t0014 a0002c0002t0016 others(2): Show a0001c0001t0001 a0002c0002t0014 a0002c0002t0016 a0002c0002t0039 a0007c0005t0040	a0001c0001t0001g0001 a0002c0002t0014g0050 a0002c0002t0016g0151 others(2): Show a0001c0001t0001g0001 a0002c0002t0014g0050 a0002c0002t0016g0151 a0002c0002t0039g0068 a0007c0005t0040g0150	8	354	0.0226	-279	c.42 others(11): Show c.4233_*4511del	IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding		1407		chr12	TogoVar
JMY_chr5_79231131_79332211	79248250	GAACTCCT others(272): Show GAACTCCTGGCCTTATTTCCATTTTAAATAGTCCATAACATTGAATTTAG TCTTGTACTTTCCTCCCTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCC AGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCTGCCTCCC AGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGTTACAG GTGCGTGCTACCACACCCAGCTAAGTTTTTTGTATTTTTAGTAGAGATGG GGTTTCACCATGTTGGCCAGGCTGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	342	0.0029	-279	c.103 others(21): Show c.1032+10577_1032+10855del	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNG2_chr18_79792938_79905100	79830724	AGACAGAG others(272): Show AGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGG AGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCATACAGA GCCTTCGTCAGGAGCGTTCTCTGCGGACAGAGCCTTCGTCAGGAGGGTTC CCTGCATACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCG TCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGG ACAGAGCCTTCGTCAGGAGGGTTCCCTGCG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03098.hp2 HG03195.hp1 others(2): Show HG02451.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 others(2): Show a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0200 a0002c0002t0002g0123	5	312	0.0160	-279	c.-11 others(21): Show c.-114-25562_-114-25284del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79831283	GACAGAGC others(272): Show GACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGA GGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAG CCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCC CTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGACAGAGCCTTCGT CAGGAGGGTTCCCTGCGGACAGAGCCTTCGTCAGGAGGGTTCCCTGCGGA CAGAGCCTTCGTCAGGAGCGTGCCCTGCGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0175 a0001c0005t0001g0175	1	312	0.0032	-279	c.-11 others(21): Show c.-114-25076_-114-24798del	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	903337	GGGACGCC others(272): Show GGGACGCCCGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGA CGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACGCC TGTCTCTGCTGTGTGGTGGTGACCTCTGCACTGCCCGTGGGGACGCCTGT CTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCGTGGGGACGCCTGTCTC TGCTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGC TGCGTGGTGGTGACCTCTGCATCGCCCACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(118): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0017 a0022	a0001c0001 a0001c0002 a0001c0004 others(34): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0022 a0001c0023 a0001c0041 a0001c0044 a0001c0053 a0001c0067 a0002c0007 a0002c0016 a0002c0017 a0002c0035 a0002c0051 a0002c0052 a0002c0054 a0003c0030 a0004c0025 a0004c0043 a0005c0019 a0005c0034 a0006c0021 a0007c0028 a0008c0036 a0008c0045 a0009c0024 a0010c0047 a0011c0038 a0011c0039 a0014c0040 a0017c0050 a0022c0042	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(45): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0010t0001 a0001c0013t0001 a0001c0013t0014 a0001c0022t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0001 a0001c0053t0002 a0001c0067t0001 a0002c0007t0001 a0002c0016t0001 a0002c0017t0001 a0002c0035t0001 a0002c0051t0001 a0002c0052t0001 a0002c0054t0001 a0003c0030t0002 a0004c0025t0007 a0004c0043t0003 a0005c0019t0001 a0005c0034t0015 a0006c0021t0001 a0006c0021t0006 a0007c0028t0004 a0008c0036t0003 a0008c0045t0003 a0009c0024t0001 a0010c0047t0010 a0011c0038t0001 a0011c0039t0002 a0014c0040t0004 a0017c0050t0001 a0022c0042t0001	a0001c0001t0001g0024 a0001c0001t0001g0170 a0001c0002t0001g0021 others(118): Show a0001c0001t0001g0024 a0001c0001t0001g0170 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 a0001c0002t0011g0292 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0078 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0248 a0001c0005t0012g0110 a0001c0006t0001g0055 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0006t0002g0283 a0001c0008t0001g0023 a0001c0008t0001g0052 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0079 a0001c0008t0001g0090 a0001c0008t0002g0071 a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0010t0001g0279 a0001c0013t0001g0043 a0001c0013t0001g0045 a0001c0013t0001g0046 a0001c0013t0001g0220 a0001c0013t0014g0022 a0001c0022t0001g0241 a0001c0022t0001g0268 a0001c0023t0001g0244 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0053t0002g0031 a0001c0067t0001g0056 a0002c0007t0001g0120 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0081 a0002c0017t0001g0096 a0002c0035t0001g0280 a0002c0051t0001g0206 a0002c0052t0001g0018 a0002c0054t0001g0114 a0003c0030t0002g0008 a0004c0025t0007g0259 a0004c0025t0007g0294 a0004c0043t0003g0119 a0005c0019t0001g0060 a0005c0019t0001g0083 a0005c0034t0015g0274 a0006c0021t0001g0020 a0006c0021t0006g0019 a0007c0028t0004g0017 a0008c0036t0003g0277 a0008c0045t0003g0072 a0009c0024t0001g0117 a0009c0024t0001g0118 a0010c0047t0010g0281 a0011c0038t0001g0245 a0011c0039t0002g0264 a0014c0040t0004g0270 a0017c0050t0001g0051 a0022c0042t0001g0084	121	294	0.4116	-279	c.663 others(17): Show c.663+7315_663+7593del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LYPD8_chr1_248734415_248760759	248747493	CCCCGCAC others(272): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18975.hp1 NA18980.hp1 others(1): Show HG02647.hp1 NA18975.hp1 NA18980.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0002g0011 a0001c0001t0002g0056 a0001c0001t0002g0076	4	374	0.0107	-279	c.337 others(15): Show c.337+517_337+795del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1861395	TCACTGCT others(272): Show TCACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCC CTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGC TCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTG GAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGACACTGCTCCGCCT GCCCCCTGGTTGGAGGGACACTGCTCCGCCTGCCCCCTGGTTGGAGGGAC ACTGCTCCGCCTGCCCCCTGGTTGGAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 NA18942.hp1 others(4): Show HG00544.hp1 HG00735.hp1 NA18942.hp1 NA18954.hp1 NA18995.hp1 NA19056.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(4): Show a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0023 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0050	7	264	0.0265	-279	c.199 others(21): Show c.1998+36526_1998+36804del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MECOM_chr3_169078507_169668712	169550812	TCCCTTTC others(272): Show TCCCTTTCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(55): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01433.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18941.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18975.hp1 NA18988.hp2 NA19002.hp1 NA19007.hp1 NA19007.hp2 NA19066.hp2 NA19070.hp1 NA19088.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0010 a0002c0011 a0006c0015	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(42): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0046 a0001c0001t0049 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0007t0012 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0013 a0002c0002t0015 a0002c0002t0024 a0002c0002t0027 a0002c0002t0035 a0002c0002t0042 a0002c0002t0043 a0002c0002t0047 a0002c0010t0002 a0002c0010t0014 a0002c0011t0011 a0002c0011t0012 a0006c0015t0022	a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 others(55): Show a0001c0001t0002g0076 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0004g0072 a0001c0001t0005g0096 a0001c0001t0006g0116 a0001c0001t0006g0121 a0001c0001t0007g0127 a0001c0001t0007g0130 a0001c0001t0008g0110 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0009g0139 a0001c0001t0010g0077 a0001c0001t0010g0079 a0001c0001t0012g0028 a0001c0001t0013g0045 a0001c0001t0015g0016 a0001c0001t0020g0128 a0001c0001t0021g0150 a0001c0001t0023g0002 a0001c0001t0026g0005 a0001c0001t0028g0007 a0001c0001t0029g0010 a0001c0001t0031g0015 a0001c0001t0033g0018 a0001c0001t0046g0151 a0001c0001t0049g0155 a0001c0003t0001g0043 a0001c0003t0001g0051 a0001c0003t0002g0078 a0001c0003t0003g0042 a0001c0003t0005g0098 a0001c0004t0001g0059 a0001c0004t0002g0082 a0001c0004t0006g0120 a0001c0007t0012g0030 a0002c0002t0002g0086 a0002c0002t0004g0065 a0002c0002t0004g0068 a0002c0002t0004g0071 a0002c0002t0005g0102 a0002c0002t0013g0047 a0002c0002t0015g0017 a0002c0002t0024g0003 a0002c0002t0027g0006 a0002c0002t0035g0026 a0002c0002t0042g0117 a0002c0002t0043g0126 a0002c0002t0047g0153 a0002c0010t0002g0089 a0002c0010t0014g0149 a0002c0011t0011g0021 a0002c0011t0012g0027 a0006c0015t0022g0001	58	160	0.3625	-279	c.37+ others(19): Show c.37+112245_37+112523del	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MIER2_chr19_300573_349796	300665	ACCCATGG others(272): Show ACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCCATGGC CGTGACACCAGTGACAGTGACTGTGGGACACCCATGGCCGTGACACCAGT GACTGGAGAGACTGTGGGACACCCATGGCCGTGACACCAGTGACTGGAGA GACTGTGGGTCACCCAGGGCCGTGACACCAGTGACTGGAGAGACTGTGGG TCACCCAGGGCCGTGACACCAGTGACTGCAGAGACTGTGGGACACCCATG GCCGTGACACCAGTGACTGGAGACTGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	384	0.0026	-279	c.57 others(11): Show c.5746_*6024del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4907		chr19	TogoVar
MIER2_chr19_300573_349796	300734	ACTGTGGG others(272): Show ACTGTGGGACACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGA CACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCCAGGG CCGTGACACCAGTGACTGGAGAGACTGTGGGTCACCCAGGGCCGTGACAC CAGTGACTGCAGAGACTGTGGGACACCCATGGCCGTGACACCAGTGACTG GAGACTGTGGGACACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTG GGTCACCCAGGGCCGTGACACCAGTGACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01515.hp2 HG01884.hp2 others(18): Show HG01257.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02451.hp1 HG02572.hp2 HG02717.hp2 HG02738.hp2 HG02895.hp1 HG03486.hp1 HG06807.hp2 NA18951.hp1 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19009.hp2 NA19077.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0004c0018 a0007c0016	a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0005t0002 a0001c0007t0001 a0001c0007t0009 a0004c0018t0001 a0007c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0283 a0001c0002t0002g0221 a0001c0005t0002g0226 a0001c0005t0002g0227 a0001c0007t0001g0156 a0001c0007t0009g0151 a0004c0018t0001g0179 a0007c0016t0001g0176	21	384	0.0547	-279	c.56 others(11): Show c.5677_*5955del	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4838		chr19	TogoVar
MYO1G_chr7_44957662_44984015	44961733	AAGGCTGA others(272): Show AAGGCTGAGGGGCTGAGGGCTGAGGGGTTGAAGGGGCTGACGGGCTAAGG GGCTGAAGGGGCTGAGGGAGCTGAGGGCTGAGGAGCTGAGGGGTTGAAGG CTGAGGGGCTGAGGGCTGAGGGGTCTGAGGGCTGAGGGGTTGAAGGGGCT GAGGGGCTGAGAGGCTGAAGGGGCTGAGGGGCTGAAGGAGGCTGAGGGCT AAGGGGTGAGGGGGATTGAGGGTGCTGAGGGGCTGAGAGAGCTGAGGGCT GAGGGGGCTGAGGGAGGCAGAGGGGCTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	378	0.0027	-279	c.72 others(10): Show c.727_*1005del	MYO1G	ENSG00000136286.16	transcript	ENST00000258787.12	protein_coding		928		chr7	TogoVar
NTN5_chr19_48656407_48678017	48669150	CCACCATC others(272): Show CCACCATCACCACCACCACCATCACCACCATGACCACCATCATCACCACC ATCACCATCACCACCACCACCACCACGACCATCATCACCACCACCACCAT CACCACCACCACGACCATCATCACCACCACCACCATCACCACCACCATCA CCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCAC CACCACCATCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	412	0.0024	-279	c.631 others(16): Show c.631+927_631+1205del	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
PRKCZ_chr1_2045411_2190395	2123807	TTAGGGTC others(272): Show TTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGC GGCGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCGTGGTGGTTAGGGTC ACGGTGGCGGTTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAG GGTCACGGCGGCGGTTAGGGTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0145 a0001c0004t0001g0145	1	286	0.0035	-279	c.335 others(19): Show c.335-11454_335-11176del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PXMP2_chr12_132682587_132709985	132692901	TAGTCAGT others(272): Show TAGTCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCA GTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTAG TGAGCGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGATAG TGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGT GAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCT CCCTTAGTTAGTTAGTGAGCTCCCTTGCCA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00735.hp1 others(73): Show HG00438.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18969.hp2 NA18979.hp2 NA18989.hp2 NA18993.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0002 a0001c0002t0006 a0003c0009t0002 a0001c0002t0002 a0001c0002t0006 a0003c0009t0002	a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 others(27): Show a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0153 a0001c0002t0002g0162 a0001c0002t0006g0002 a0003c0009t0002g0062	76	350	0.2171	-279	c.236 others(17): Show c.236+2526_237-2704del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4			chr12	TogoVar
RASA3_chr13_113972783_114137623	114019869	CCTCAGGT others(272): Show CCTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCAGCCCTGTCAGGTG GGTGGAGCCTGTGTCCGAGGCATTAGCCCCCGCCAGGTGGGTGGAGCCTG TGTCCGAGGCATTAGCCCCCGCCAGGTGGGTGGAGCCTGTGTCCGAGGCA TTAGCAGCCCTGTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCC CTCAGGTGGGTGGAGCCTGTGTCCGAGGCATTAGCCCCCCTCAGGTGGGT GGAGCCTGTGTCCGAGGCATTAGCAGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03209.hp1 HG03225.hp2 others(2): Show HG02738.hp1 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0005t0001 a0001c0001t0001 a0001c0001t0004 a0001c0005t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0004g0066 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0004g0066 a0001c0005t0001g0015 a0001c0005t0001g0016	5	67	0.0746	-279	c.786 others(16): Show c.786-1229_786-951del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	9/23			chr13	TogoVar
RGPD3_chr2_106398406_106473413	106466892	GTCGAGGC others(272): Show GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18945.hp2 NA18993.hp1 others(2): Show HG02293.hp1 NA18945.hp2 NA18993.hp1 NA19079.hp2 NA19087.hp2	a0001 a0039 a0001 a0039	a0001c0001 a0039c0039 a0001c0001 a0039c0039	a0001c0001t0002 a0001c0001t0003 a0039c0039t0003 a0001c0001t0002 a0001c0001t0003 a0039c0039t0003	a0001c0001t0002g0104 a0001c0001t0003g0034 a0001c0001t0003g0035 others(2): Show a0001c0001t0002g0104 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0098 a0039c0039t0003g0097	5	382	0.0131	-279	c.72+ others(15): Show c.72+1046_72+1324del	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RIPK1_chr6_3063494_3120187	3090823	CGCACCTA others(272): Show CGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	340	0.0029	-279	c.915 others(17): Show c.915+1169_915+1447del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090981	GCCTACCT others(272): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	340	0.0029	-279	c.915 others(17): Show c.915+1445_915+1723del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(272): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG02074.hp1 others(5): Show HG00438.hp2 HG02015.hp2 HG02074.hp1 HG02273.hp2 NA18944.hp2 NA18946.hp2 NA19056.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021	a0001c0001t0002g0146 a0001c0001t0002g0315 a0001c0002t0001g0070 others(5): Show a0001c0001t0002g0146 a0001c0001t0002g0315 a0001c0002t0001g0070 a0001c0002t0002g0014 a0001c0002t0002g0084 a0001c0002t0002g0239 a0001c0002t0002g0289 a0001c0002t0021g0061	8	340	0.0235	-279	c.915 others(17): Show c.915+2003_915+2281del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091753	CGCGCCTA others(272): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	340	0.0029	-279	c.915 others(17): Show c.915+2189_915+2467del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092178	TAACCGCA others(272): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCA CCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGC CTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGA ACCGCAGAGCGCCTACCTGCCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	340	0.0029	-279	c.915 others(17): Show c.915+2550_915+2828del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(272): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0291 a0001c0002t0002g0291	1	340	0.0029	-279	c.915 others(17): Show c.915+2995_915+3273del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093086	CGCGCCTA others(272): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAG CGCCTACCTGCCGCACCTAGGAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	340	0.0029	-279	c.915 others(17): Show c.915+3460_915+3738del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093117	CGCGCCTA others(272): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	-279	c.915 others(17): Show c.915+3482_915+3760del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093139	TAACCGCA others(272): Show TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGC AGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGC CTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTA ACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp2 NA18945.hp2 HG00140.hp1 HG01515.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0027g0169 a0001c0001t0001g0048 a0001c0001t0001g0075 a0001c0001t0027g0169	3	340	0.0088	-279	c.915 others(17): Show c.915+3491_915+3769del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093179	CGCGCCTA others(272): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAG CGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	340	0.0029	-279	c.915 others(17): Show c.915+3573_915+3851del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPH3AL_chr17_207389_357807	300410	AAGGGGCT others(272): Show AAGGGGCTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCACTCTAGAAG GGGCTGGCCCAGCCTAGGCCTGCAGAATCTCTTACCCGCTCTAGCAGGGG CTGGCCCAGCCTAGACCTGCAGAATCTCTCACCCGGTCTAGCAGGGGCTG GCCCATAGGCCTGCAGAATCTCTCACCCGCTCTAGCAGGGGCTGGCCCAG CCTAGACCTGCAGAATCTCTCACCCACTCTAGAAGGGGCTGGCCCAGCCT AGACCTGCAGAATCTCTCACCCGCTCTAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01496.hp2 HG02071.hp1 others(12): Show HG00280.hp2 HG01496.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02818.hp1 HG04184.hp1 NA18947.hp2 NA18951.hp2 NA18959.hp1 NA18995.hp2 NA19004.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0007 a0001c0015t0007	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0045 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0006g0120 a0001c0001t0007g0097 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0002t0001g0057 a0001c0002t0007g0112 a0001c0015t0007g0026	15	133	0.1128	-279	c.351 others(19): Show c.351+18731_352-18557del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877020	TGTATATA others(272): Show TGTATATATATGGTATATATATGGTGTATATACTATATATATGGTATATA TATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATAT ATATGGTGTATATACTATATATATGGTATATATATGGTGTATATACTATA TATATGGTATATATATGGTGTATATACTATATATATGGTATATATATGGT GTATATACTATATATATGGTATATATATGGTGTATATACTATATATATGG TATATATATGGTGTATATACTATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0003g0285 a0001c0001t0003g0289	2	314	0.0064	-279	c.339 others(19): Show c.3393+2651_3393+2929del	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SKI_chr1_2223319_2315213	2281984	AGGACGCC others(272): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0095 a0001c0001t0009g0095	1	330	0.0030	-279	c.970 others(19): Show c.970-20991_970-20713del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251518	CGCCCGGC others(272): Show CGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTG CCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGG CTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGA CACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGT AGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTG CCCGGCTTTAGTAGGTGCCGCGGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0148 a0002c0003t0001g0148	1	150	0.0067	-279	c.531 others(19): Show c.531+75404_531+75682del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642104	GGGGGCCC others(272): Show GGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGTGGGGGGCCAGCGGGGGTGAAGTTGCCTGGGGGGGGCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGGGCCAGCGGGGGTGGAGTTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0143 a0001c0007t0010g0143	1	422	0.0024	-279	c.63 others(11): Show c.6331_*6609del	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4510		chr20	TogoVar
STK3_chr8_98449633_98830688	98660934	GCTAGCAG others(272): Show GCTAGCAGACCTGCCCTGCAAAAAACAAAAAGGAAGTTCTTCAGGTAGAA ATGAAAGGACACTAGATACTAACTTAAATCCACACAATGAAATCAAGAGT ACAGCAAAGGTAACTACAGAGGTAAATGTAAAAGACAGTATAAATGTATT TTTTTCTTTTCTTTGTAACTCTTTAGAGCACTCCTACCATAAGTATAAAT TACAATTTTTAAAATGTCACGCTACAATTCAATAGGTAAATACTGAACCT GTTTTAAGAAGTACGTTTTATATTTCACTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	170	0.0059	-279	c.684 others(19): Show c.684+45254_684+45532del	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	6/10			chr8	TogoVar
SULT4A1_chr22_43819509_43867513	43834527	CCCCCACC others(272): Show CCCCCACCGCTGCCCTGAGCTTCCCGCAGCCACACCGCGGCCCTGAGCTT CCCGCGCCCCCACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCT GTGCTTCCCGCGCCCCCACCGCGGCCCTGAGCTTCCCGCGCCCCCACCGC GGCCCTGAGCTTCCCGCGCCCCCACCGCTGCCCTGAGCTTCCCGCACCCA CACCGCGTCCCTGTGCTTCCCGCGCCCCCACCGCGTCCCTGTGCTTCCCG CGCCCCCACCGCGGCCCTGAGCTTCCCGCG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	386	0.0026	-279	c.509 others(16): Show c.509-1072_509-794del	SULT4A1	ENSG00000130540.14	transcript	ENST00000330884.9	protein_coding	4/6			chr22	TogoVar
TMEM163_chr2_134450759_134724000	134607326	GACAGACC others(272): Show GACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGATGAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02895.hp1 others(1): Show HG02818.hp2 HG02886.hp2 HG02895.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0013 others(1): Show a0001c0001t0001g0012 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0005g0011	4	222	0.0180	-279	c.323 others(19): Show c.323-55514_323-55236del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TWF1_chr12_43788723_43811317	43790706	ATGGTATG others(272): Show ATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACC ATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTAT GGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAA TCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGT TATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACATT GAAAATCACCTAGTTTGTGATGCATTAGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02080.hp1 others(23): Show HG00408.hp1 HG00621.hp2 HG02080.hp1 HG02155.hp1 HG02165.hp2 NA18612.hp1 NA18941.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18975.hp1 NA18979.hp2 NA18992.hp1 NA18993.hp1 NA19001.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19063.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0021g0070 a0001c0001t0001g0002 a0001c0001t0021g0070	26	382	0.0681	-279	c.46 others(11): Show c.4600_*4878del	TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding		3016		chr12	TogoVar
TWF1_chr12_43788723_43811317	43790947	AATCACAT others(272): Show AATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTGTGGTATGGTTT GTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACA TTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTC GTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACATTGAAAA TCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTCGTTAGTA TGAAGATTACAGGTATAAGCTACCATGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG06807.hp2 others(4): Show HG02559.hp2 HG03209.hp2 HG06807.hp2 NA19005.hp1 NA19065.hp1 NA19076.hp2 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0017 a0001c0004t0019 a0001c0004t0005 a0001c0004t0017 a0001c0004t0019	a0001c0004t0005g0012 a0001c0004t0017g0086 a0001c0004t0019g0080 a0001c0004t0005g0012 a0001c0004t0017g0086 a0001c0004t0019g0080	7	382	0.0183	-279	c.43 others(11): Show c.4359_*4637del	TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding		2775		chr12	TogoVar
TWF1_chr12_43788723_43811317	43791040	AATCACAT others(272): Show AATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTT GTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAATCACA TTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTC GTTAGTATGAAGATTACAGGTATAAGCTACCATGAAGATCACATTGAAAA TCACCTAGTTTGTGATGCATTAGTATGGTATGGTTTGTTATTCGTTAGTA TGAAGATTACAGGTATAAGCTACCATGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	382	0.0026	-279	c.42 others(11): Show c.4266_*4544del	TWF1	ENSG00000151239.14	transcript	ENST00000395510.7	protein_coding		2682		chr12	TogoVar
ADAM8_chr10_133257423_133281868	133264903	TGCCCAGC others(271): Show TGCCCAGCTCCTGCTGCAGCCTCTGCCCCATCTACCTCCACGCGCAGCTC CTGCTGCAGCCTCTGCCCCATCTACCTCCACGCCTGTTCCTGCTGCAGCC TCTGCCCCATCTACCTCCACGCCCGGCTCCTGCTGCAGCCTCTGCCCCAT CTACCTCCACGCCCAGCTCCTGCTGCAGCCTCTGCCCCATCTACCTCCAC GCCTGTTCCTGCTGCAGCCTCTGCCCCATCTACCTCCATGCCCAGCTCCT GCTGCAGCCTCTGCCCCATCTACCTCCAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18956.hp1 NA18950.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	386	0.0052	-278	c.232 others(19): Show c.2320-1416_2320-1139del	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding	21/22			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235926	TGTGGGTT others(271): Show TGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTGTGTGATTAAAAGGAG GAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACCAGCACAGGTGGGAGT GGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATCCAGCCATGACCCAGG TGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTG CAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCC CCATCGGAGTGGGCGCTGAACGAACATGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0006 a0009c0010t0006	a0009c0010t0006g0014 a0009c0010t0006g0014	1	106	0.0094	-278	c.136 others(19): Show c.1362-2359_1362-2082del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHRR_chr5_316714_443285	391356	CAGGGCCA others(271): Show CAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCATGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGG GCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGG CCAGAGCGTGCACGGACACAGGGCGAGGA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	268	0.0037	-278	c.351 others(19): Show c.351+14641_351+14918del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AP3D1_chr19_2095988_2156566	2128625	GCCCCCGC others(271): Show GCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTG CACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGA GCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGC CCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTC CGACACTGCACCCCGTGGAGCCGGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	406	0.0025	-278	c.806 others(15): Show c.806+187_806+464del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128672	AGCTCCGA others(271): Show AGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCG CTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCAACACT GCACCCCGTGGAGCCGGCCCGCCCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	406	0.0025	-278	c.806 others(15): Show c.806+140_806+417del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP11A_chr13_112685038_112892168	112844861	CTAACAGT others(271): Show CTAACAGTACTAATCAGTCCAGTTGCCGACTGCTAGCGGTACTAGTCCAG TTACTGGGCACTAGCCATACTAACCAGTCCAGTTGCCGGGCACTAGCAGT ACTAGTCCAAGTGCCAGGTATCAGTGGTACTAATCAGTCCAGTTGCCAGC CGCTAGCAGTACTAGTCCAGTTACCGGGCACTAGCCATACTAACCAGTCC AGTTACTGGGCACTGGTGGTACAGACCAGTCCAGTTGCCAGCCACTAGCG GTACTAGTACTAGTCCAAGTGCCGGGCAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02559.hp1 others(6): Show HG01243.hp1 HG01891.hp1 HG02559.hp1 HG02572.hp1 HG02970.hp1 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0002t0016 a0001c0002t0034 a0001c0002t0047 a0001c0002t0053 a0001c0009t0004 a0001c0009t0049	a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 others(6): Show a0001c0001t0001g0210 a0001c0002t0003g0198 a0001c0002t0013g0117 a0001c0002t0016g0209 a0001c0002t0034g0042 a0001c0002t0047g0112 a0001c0002t0053g0116 a0001c0009t0004g0140 a0001c0009t0049g0141	9	254	0.0354	-278	c.180 others(19): Show c.1809+2485_1809+2762del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BTNL2_chr6_32388339_32412181	32400763	ATTAGCTG others(271): Show ATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGTTACTCAGGAGGC TGAAGCAGGAGAATAGCTTGAATCCAGGAGATGGAGGTTGCAGTGAGCCA AGATGGCGCCATTGCACTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAATGCCCGGCGTGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCTGAGGTGGGGGGATCACGAGATCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAATCTCGTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp1 HG01192.hp1 others(31): Show HG00423.hp1 HG00673.hp1 HG01192.hp1 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp2 HG03017.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18953.hp1 NA18973.hp2 NA18981.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA19003.hp2 NA19007.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp1	a0003 a0006 a0003 a0006	a0003c0008 a0006c0007 a0003c0008 a0006c0007	a0003c0008t0001 a0006c0007t0001 a0003c0008t0001 a0006c0007t0001	a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 others(8): Show a0003c0008t0001g0006 a0003c0008t0001g0024 a0003c0008t0001g0122 a0003c0008t0001g0123 a0003c0008t0001g0124 a0003c0008t0001g0125 a0003c0008t0001g0126 a0006c0007t0001g0005 a0006c0007t0001g0025 a0006c0007t0001g0055 a0006c0007t0001g0127	34	453	0.0751	-278	c.730 others(16): Show c.730+744_730+1021del	BTNL2	ENSG00000204290.11	transcript	ENST00000454136.8	protein_coding	4/7			chr6	TogoVar
C7orf50_chr7_992006_1143247	1128967	CCACCCTG others(271): Show CCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCA TCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCAC CTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0302 a0002c0002t0003g0302	1	326	0.0031	-278	c.-1- others(15): Show c.-1-1859_-1-1582del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CCDC77_chr12_396644_447642	410392	CGAGTAGC others(271): Show CGAGTAGCTGGGATTACACACGCGTGCCACCAGGCCCGGCTGATTTTTGT ATTTTCGGTAGAGACTAGGTTTTGCTGTGTTGGCCAGGTTGGTCTTGAAC TCCTGACCTCAAGTAATCTGCCCACCTTGGCCTCCCAAAGTGGTGGGATT ACAGGCTAATTTTTGTATTTTTGGTAGAAACTAGGTTCCGCTATGTTGGC CAGGCTGGTCTGGAGTGGCGTGATCTCGGCACTTGAACCTGCCTCCTGCG TTCAAGCAATTATTCTGCCTCAGCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0112 a0002c0002t0001g0112	1	432	0.0023	-278	c.38+ others(15): Show c.38+1012_39-1037del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 10000 hits)