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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PARVB_chr22_44019302_44177939	44113347	TACTAACT others(182): Show TACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAAGGC CCTGCACCAACACAGATACATTGTTACTAAATAAGGCCCTGTACCAACAC AGATACATTGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTA CTAAGTAAGGCCCTGTACCAACACAGATACATTGTTACTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(98): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0006 a0003c0033 a0003c0034 a0005c0014 a0009c0026 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0057 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0025 a0001c0002t0040 a0001c0002t0044 a0001c0002t0066 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002 a0003c0034t0036 a0005c0014t0083 a0009c0026t0001 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0239 others(98): Show a0001c0001t0001g0005 a0001c0001t0001g0096 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0003g0328 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0009g0091 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0021g0090 a0001c0001t0023g0205 a0001c0001t0024g0076 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0033g0209 a0001c0001t0057g0117 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0224 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0138 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0066g0105 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0063 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195 a0003c0034t0036g0325 a0005c0014t0083g0197 a0009c0026t0001g0277 a0011c0010t0031g0179	101	332	0.3042	-189	c.274 others(17): Show c.274-5685_274-5497del		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PERM1_chr1_970198_987093	976836	CCCCCCGC others(182): Show CCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCCAACCCCGGG AACCGCCTCCCACTCCCCCCGCCAACCCCGGGAACCGCCTCCCACTCCCC CCGCCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCGCT	C C	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0061 a0003c0003t0004g0061	1	408	0.0025	-189	c.215 others(17): Show c.2150-401_2150-213del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PERM1_chr1_970198_987093	977096	GCAACCCC others(182): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGAC	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0198 a0004c0004t0002g0198	1	408	0.0025	-189	c.215 others(17): Show c.2150-661_2150-473del		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PFN3_chr5_177395109_177405661	177396406	GTCTCTCC others(182): Show GTCTCTCCCAGTGCCCCCGCGGAGATCCGCTCTCCCAGTGCCCCCGCGGA GGTCCGCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCG CGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCC CCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGGTCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(96): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02165.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18976.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp2 NA19010.hp1 NA19054.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	99	416	0.2380	-189	c.35 others(11): Show c.3568_*3756del		PFN3	ENSG00000196570.3	transcript	ENST00000358571.3	protein_coding					3702		chr5	TogoVar
PKD1_chr16_2083708_2140898	2128090	GAGGGAGG others(182): Show GAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGG CTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGTGGGA GGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGCAGGGAGGGAGAGGT GGGAGGGGCTGGCAGGGAGGGAGAGGTGGGAGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0060 a0060	a0060c0050 a0060c0050	a0060c0050t0002 a0060c0050t0002	a0060c0050t0002g0006 a0060c0050t0002g0006	1	216	0.0046	-189	c.215 others(17): Show c.215+7196_215+7384del		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	1/45						chr16	TogoVar
PLEKHN1_chr1_961482_980865	964575	GGCTGTGG others(182): Show GGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGGGGAGG GGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTC CGCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGAT GTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01884.hp1 HG02109.hp2 others(29): Show HG01099.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0001c0009 a0001c0011 others(10): Show a0001c0001 a0001c0009 a0001c0011 a0001c0012 a0001c0053 a0002c0002 a0002c0017 a0002c0045 a0003c0019 a0003c0021 a0007c0015 a0007c0026 a0010c0037	a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 others(17): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0009t0008 a0001c0009t0009 a0001c0009t0027 a0001c0011t0005 a0001c0011t0007 a0001c0012t0040 a0001c0053t0010 a0002c0002t0002 a0002c0002t0018 a0002c0017t0004 a0002c0045t0003 a0003c0019t0001 a0003c0021t0002 a0007c0015t0002 a0007c0015t0007 a0007c0026t0002 a0010c0037t0004	a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0097 others(21): Show a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0097 a0001c0001t0007g0006 a0001c0001t0022g0165 a0001c0009t0008g0094 a0001c0009t0009g0036 a0001c0009t0027g0095 a0001c0011t0005g0009 a0001c0011t0005g0036 a0001c0011t0005g0092 a0001c0011t0007g0155 a0001c0012t0040g0102 a0001c0053t0010g0035 a0002c0002t0002g0161 a0002c0002t0018g0043 a0002c0017t0004g0101 a0002c0045t0003g0093 a0003c0019t0001g0035 a0003c0021t0002g0006 a0007c0015t0002g0042 a0007c0015t0007g0042 a0007c0026t0002g0038 a0010c0037t0004g0096	32	422	0.0758	-189	c.-19 others(11): Show c.-1956_-1768del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1906		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977096	GCAACCCC others(182): Show GCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC ACCACCCCGCCAACCCCGGGAACCGCCTGCCCCCACCGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03516.hp2 HG02717.hp1 HG03516.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0026 a0002c0006t0044 a0002c0006t0026 a0002c0006t0044	a0002c0006t0026g0021 a0002c0006t0044g0021 a0002c0006t0026g0021 a0002c0006t0044g0021	2	422	0.0047	-189	c.25 others(11): Show c.2522_*2710del		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1232		chr1	TogoVar
PRB3_chr12_11260914_11274707	11267424	GCCTCCTT others(182): Show GCCTCCTTGTGAAGGTGGTCCTTCTGGCTTTCCTGGACGAGGTGGGGGAC CTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCTGGA CGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18952.hp2 NA18989.hp1 NA19011.hp2 others(1): Show NA18952.hp2 NA18989.hp1 NA19011.hp2 NA19091.hp2	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0002 a0014c0012t0002	a0014c0012t0002g0017 a0014c0012t0002g0017	4	443	0.0090	-189	c.636 others(7): Show c.636_824del	p.Asn others(13): Show p.Asn213_Gly275del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	862/1227	636/1056	212/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267592	TGGGGGAC others(182): Show TGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCT TTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT GGTCCTTCTGGCTTTCCCGGATGAGGCGGGGGACCTTGGGACTGGTTTCC TCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03041.hp1 NA19240.hp2 HG03041.hp1 NA19240.hp2	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0002 a0022c0021t0002	a0022c0021t0002g0031 a0022c0021t0002g0031	2	443	0.0045	-189	c.468 others(7): Show c.468_656del	p.Pro others(13): Show p.Pro157_Pro219del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	694/1227	468/1056	156/351			chr12	TogoVar
PRB3_chr12_11260914_11274707	11267781	CGGGGGAC others(182): Show CGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCT TTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGT GGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCC TCCTTGTGGGGGTTGTCCTTCTGGCTTTCCCGGACGAGGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01069.hp1 HG01071.hp1 HG01099.hp2 others(7): Show HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01361.hp1 HG01515.hp2 NA20752.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0009 a0008c0008t0001g0043 a0008c0008t0001g0009 a0008c0008t0001g0043	10	443	0.0226	-189	c.279 others(7): Show c.279_467del	p.Pro others(12): Show p.Pro94_Pro156del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	505/1227	279/1056	93/351			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806135	CCATCACC others(182): Show CCATCACCACCACCACCACCATCACCATCACCACCACCATCACCACCACC ACCATCACCACCACCACCATCACCATCACCATCACCATCACCACCATCAC TACCACCATCACCACCACCACCATCACCACCACCCATCACCACCACCACC ATCACCATCACCACCACCATCACCACCACCACCATCACCA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03017.hp2 HG03831.hp1 others(1): Show HG01884.hp1 HG03017.hp2 HG03831.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0005t0030 a0001c0001t0002 a0001c0005t0002 a0001c0005t0030	a0001c0001t0002g0249 a0001c0005t0002g0138 a0001c0005t0002g0143 others(1): Show a0001c0001t0002g0249 a0001c0005t0002g0138 a0001c0005t0002g0143 a0001c0005t0030g0037	4	406	0.0099	-189	c.265 others(19): Show c.2653-1710_2653-1522del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRIMPOL_chr4_184644738_184699952	184676521	CCCTTCCC others(182): Show CCCTTCCCCATCCCTTCCCTTTCCCTTCCCTTCCCCTTTCCTTTTCTCTC CCTTCCTTCTCCCTTCCTTCCCCTTCCTTCTTTTTCCCTTCCTTTCTCCC CTTCCTTCCCCTCCCCTTCCCCCTCCCTTCTCCTTCCCTTCCCCTTCCTT CCCCCTTTCTTTCCTTTCCCGTCCCCCCCCTTCCCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0074 a0002c0006t0001g0074	1	328	0.0031	-189	c.845 others(17): Show c.845-1703_845-1515del		PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCA_chr17_66297613_66815743	66798689	GTGATGGT others(182): Show GTGATGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03453.hp1 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0085 a0001c0001t0017 a0001c0001t0085	a0001c0001t0017g0090 a0001c0001t0085g0128 a0001c0001t0017g0090 a0001c0001t0085g0128	2	178	0.0112	-189	c.185 others(19): Show c.1855-5181_1855-4993del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123702	TAGTTAGG others(182): Show TAGTTAGGGTGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTG GTAGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGT GGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTG TGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	286	0.0035	-189	c.335 others(19): Show c.335-11559_335-11371del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PXDNL_chr8_51314577_51814445	51454942	CAAGAGGT others(182): Show CAAGAGGTAAGGGAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01109.hp1 others(45): Show HG00438.hp2 HG00741.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01884.hp2 HG01975.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA18522.hp1 NA18906.hp1 NA18959.hp2 NA18966.hp2 NA19003.hp2 NA19043.hp2 NA19056.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 others(14): Show a0001 a0002 a0004 a0006 a0008 a0009 a0011 a0017 a0021 a0022 a0028 a0029 a0030 a0031 a0032 a0033 a0034	a0001c0046 a0002c0002 a0002c0021 others(18): Show a0001c0046 a0002c0002 a0002c0021 a0002c0037 a0004c0004 a0004c0041 a0006c0006 a0008c0008 a0009c0012 a0009c0045 a0011c0017 a0017c0016 a0021c0022 a0022c0042 a0028c0038 a0029c0039 a0030c0040 a0031c0020 a0032c0048 a0033c0036 a0034c0019	a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 others(23): Show a0001c0046t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0021t0002 a0002c0037t0001 a0004c0004t0001 a0004c0004t0003 a0004c0041t0001 a0006c0006t0001 a0008c0008t0001 a0008c0008t0003 a0009c0012t0003 a0009c0045t0001 a0011c0017t0001 a0017c0016t0001 a0021c0022t0003 a0022c0042t0001 a0028c0038t0002 a0029c0039t0002 a0030c0040t0001 a0031c0020t0001 a0032c0048t0001 a0033c0036t0001 a0034c0019t0001	a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 others(45): Show a0001c0046t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0028 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0053 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0002g0104 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0117 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0004g0015 a0002c0021t0002g0092 a0002c0037t0001g0087 a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 a0004c0004t0001g0076 a0004c0004t0003g0001 a0004c0041t0001g0057 a0006c0006t0001g0042 a0006c0006t0001g0043 a0006c0006t0001g0045 a0006c0006t0001g0046 a0008c0008t0001g0059 a0008c0008t0001g0064 a0008c0008t0003g0007 a0009c0012t0003g0012 a0009c0045t0001g0052 a0011c0017t0001g0054 a0011c0017t0001g0075 a0017c0016t0001g0062 a0017c0016t0001g0063 a0021c0022t0003g0004 a0022c0042t0001g0044 a0028c0038t0002g0119 a0029c0039t0002g0120 a0030c0040t0001g0060 a0031c0020t0001g0084 a0032c0048t0001g0069 a0033c0036t0001g0091 a0034c0019t0001g0090	48	122	0.3934	-189	c.983 others(17): Show c.983-1346_983-1158del		PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	9/22						chr8	TogoVar
RAD21L1_chr20_1221044_1260876	1259524	ATTTGAGA others(182): Show ATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01993.hp1 others(11): Show HG01081.hp1 HG01175.hp1 HG01993.hp1 HG02004.hp1 HG02145.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03486.hp1 NA18522.hp1 NA19030.hp2 NA19054.hp1 NA20300.hp1 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0003 a0003c0004t0006 a0003c0004t0001 a0003c0004t0003 a0003c0004t0006	a0003c0004t0001g0091 a0003c0004t0003g0034 a0003c0004t0003g0090 others(8): Show a0003c0004t0001g0091 a0003c0004t0003g0034 a0003c0004t0003g0090 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0006g0026 a0003c0004t0006g0089 a0003c0004t0006g0099 a0003c0004t0006g0154 a0003c0004t0006g0156 a0003c0004t0006g0157	14	364	0.0385	-189	c.50 others(11): Show c.5068_*5256del		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					3649		chr20	TogoVar
RGPD3_chr2_106398406_106473413	106466982	GTCGAGGC others(182): Show GTCGAGGCTGCCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAA CAGAGCGCGCCAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCA TCGAGGCCGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGC CAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04184.hp1 NA18949.hp2 others(2): Show HG02258.hp2 HG04184.hp1 NA18949.hp2 NA18986.hp1 NA19070.hp1	a0001 a0002 a0018 others(1): Show a0001 a0002 a0018 a0035	a0001c0001 a0002c0002 a0018c0021 others(1): Show a0001c0001 a0002c0002 a0018c0021 a0035c0038	a0001c0001t0020 a0001c0001t0031 a0002c0002t0001 others(2): Show a0001c0001t0020 a0001c0001t0031 a0002c0002t0001 a0018c0021t0029 a0035c0038t0031	a0001c0001t0020g0277 a0001c0001t0031g0268 a0002c0002t0001g0275 others(2): Show a0001c0001t0020g0277 a0001c0001t0031g0268 a0002c0002t0001g0275 a0018c0021t0029g0253 a0035c0038t0031g0276	5	382	0.0131	-189	c.72+ others(15): Show c.72+1046_72+1234del		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RPH3AL_chr17_207389_357807	242693	TTACCTTC others(182): Show TTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTAAT GACTACCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTA TTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGAC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA19079.hp2 HG02165.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0010 a0001c0001t0014g0106 a0001c0001t0002g0010 a0001c0001t0014g0106	2	133	0.0150	-189	c.613 others(17): Show c.613+4229_613+4417del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840936	TCTCTCTG others(182): Show TCTCTCTGCACCGCAGCTCACACTCACCGCACGGCAGCTCACATTCACCA CACGGCAACTCACTCTCACCACACGGCAGCTCACTCTCTCTGCACCGCAG CTCACACTCACCGCACGGCAGCTCACATTCACCACACGGCAACTCACTCT CACCACACGGCAGCTCACTCTCTCTGCACCGCAGCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01169.hp1 others(14): Show HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG02280.hp2 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03831.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0008 a0001c0009 others(8): Show a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0020 a0001c0021 a0001c0052 a0001c0066 a0001c0071 a0001c0087 a0001c0088	a0001c0007t0030 a0001c0007t0069 a0001c0007t0090 others(12): Show a0001c0007t0030 a0001c0007t0069 a0001c0007t0090 a0001c0008t0036 a0001c0009t0078 a0001c0012t0003 a0001c0020t0048 a0001c0021t0018 a0001c0021t0065 a0001c0021t0079 a0001c0052t0003 a0001c0066t0058 a0001c0071t0088 a0001c0087t0002 a0001c0088t0007	a0001c0007t0030g0018 a0001c0007t0069g0128 a0001c0007t0090g0025 others(14): Show a0001c0007t0030g0018 a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0008t0036g0002 a0001c0009t0078g0021 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0189 a0001c0020t0048g0094 a0001c0021t0018g0014 a0001c0021t0065g0112 a0001c0021t0079g0005 a0001c0052t0003g0149 a0001c0066t0058g0126 a0001c0071t0088g0035 a0001c0087t0002g0051 a0001c0088t0007g0141	17	196	0.0867	-189	c.121 others(19): Show c.1212+2943_1212+3131del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841556	ACCGCACG others(182): Show ACCGCACGGCAGATCACTCTCACCGCACGGCAGCTCACTCTCACCGCACT GCAGCTCACTCTCACCGCAGGGCAGCTGACACTCACCACACGGCAGCTCA CTCTCACCGCGCCGCAGCTCACACTCACCGCACGGCATCTCACTCTCACC GCACGGCAGCTCACTCTCACCACACCGCAGCTCACTCTCC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18906.hp2 HG01261.hp1 NA18906.hp2	a0001 a0001	a0001c0075 a0001c0079 a0001c0075 a0001c0079	a0001c0075t0012 a0001c0079t0050 a0001c0075t0012 a0001c0079t0050	a0001c0075t0012g0127 a0001c0079t0050g0097 a0001c0075t0012g0127 a0001c0079t0050g0097	2	196	0.0102	-189	c.121 others(19): Show c.1212+3571_1212+3759del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43281219	TCCTCAGT others(182): Show TCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCC TCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTT GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18962.hp2 NA19066.hp1 HG03710.hp2 NA18962.hp2 NA19066.hp1	a0003 a0003	a0003c0001 a0003c0007 a0003c0001 a0003c0007	a0003c0001t0001 a0003c0001t0053 a0003c0007t0001 a0003c0001t0001 a0003c0001t0053 a0003c0007t0001	a0003c0001t0001g0154 a0003c0001t0053g0203 a0003c0007t0001g0102 a0003c0001t0001g0154 a0003c0001t0053g0203 a0003c0007t0001g0102	3	280	0.0107	-189	c.484 others(17): Show c.484+9638_484+9826del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SLC22A24_chr11_63074940_63149221	63113030	AAAAAAAT others(182): Show AAAAAAATATATATATATATATATACATATATATATATACATATATATAC ACATATATATACATATATATATACATATATATACACATATATATATACAT ATATATATACACATATATATATACATATATATATACACATATATATACAT ATATATATACACATATATATATACATATATATACACATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp1 HG01109.hp1 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0074 a0007c0007t0002g0075 a0007c0007t0002g0074 a0007c0007t0002g0075	2	366	0.0055	-189	c.830 others(17): Show c.830+5693_830+5881del		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9						chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113032	AAAAATAT others(182): Show AAAAATATATATATATATATATACATATATATATATACATATATATACAC ATATATATACATATATATATACATATATATACACATATATATATACATAT ATATATACACATATATATATACATATATATATACACATATATATACATAT ATATATACACATATATATATACATATATATACACATATAT	A A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18987.hp1 NA19011.hp1 NA18979.hp1 NA18987.hp1 NA19011.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0346 a0006c0006t0001g0323 a0006c0006t0001g0332 a0002c0002t0001g0346 a0006c0006t0001g0323 a0006c0006t0001g0332	3	366	0.0082	-189	c.830 others(17): Show c.830+5691_830+5879del		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9						chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113034	AAATATAT others(182): Show AAATATATATATATATATATACATATATATATATACATATATATACACAT ATATATACATATATATATACATATATATACACATATATATATACATATAT ATATACACATATATATATACATATATATATACACATATATATACATATAT ATATACACATATATATATACATATATATACACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00738.hp1 others(41): Show HG00423.hp2 HG00438.hp1 HG00738.hp1 HG01496.hp2 HG02027.hp1 HG02080.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02723.hp2 HG02738.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp1 HG04184.hp1 NA18941.hp1 NA18943.hp2 NA18967.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19060.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0017 a0002c0002 others(5): Show a0001c0001 a0001c0017 a0002c0002 a0002c0008 a0002c0024 a0005c0005 a0006c0006 a0010c0010	a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0017t0001 a0002c0002t0001 a0002c0008t0001 a0002c0024t0001 a0005c0005t0001 a0006c0006t0001 a0010c0010t0001	a0001c0001t0001g0116 a0001c0001t0001g0188 a0001c0001t0001g0361 others(41): Show a0001c0001t0001g0116 a0001c0001t0001g0188 a0001c0001t0001g0361 a0001c0017t0001g0089 a0002c0002t0001g0111 a0002c0002t0001g0125 a0002c0002t0001g0147 a0002c0002t0001g0226 a0002c0002t0001g0231 a0002c0002t0001g0235 a0002c0002t0001g0248 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0264 a0002c0002t0001g0312 a0002c0002t0001g0348 a0002c0008t0001g0320 a0002c0008t0001g0328 a0002c0024t0001g0139 a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0144 a0005c0005t0001g0145 a0005c0005t0001g0146 a0005c0005t0001g0148 a0005c0005t0001g0149 a0005c0005t0001g0150 a0005c0005t0001g0151 a0005c0005t0001g0339 a0006c0006t0001g0269 a0006c0006t0001g0317 a0006c0006t0001g0321 a0006c0006t0001g0322 a0006c0006t0001g0324 a0006c0006t0001g0325 a0006c0006t0001g0326 a0006c0006t0001g0327 a0006c0006t0001g0329 a0006c0006t0001g0330 a0006c0006t0001g0334 a0006c0006t0001g0335 a0006c0006t0001g0338 a0010c0010t0001g0091	44	366	0.1202	-189	c.830 others(17): Show c.830+5689_830+5877del		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9						chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113036	ATATATAT others(182): Show ATATATATATATATATATACATATATATATATACATATATATACACATAT ATATACATATATATATACATATATATACACATATATATATACATATATAT ATACACATATATATATACATATATATATACACATATATATACATATATAT ATACACATATATATATACATATATATACACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG01516.hp1 others(17): Show HG00423.hp1 HG00597.hp1 HG01516.hp1 HG01517.hp2 HG02165.hp2 HG02738.hp2 HG03471.hp2 HG03492.hp1 HG03688.hp2 NA18947.hp2 NA18960.hp2 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18987.hp2 NA19030.hp2 NA19064.hp2 NA19072.hp1 NA19074.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0008 others(1): Show a0001c0001 a0002c0002 a0002c0008 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0008t0001 a0004c0004t0001	a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0180 others(17): Show a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0304 a0002c0002t0001g0158 a0002c0002t0001g0164 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0270 a0002c0002t0001g0294 a0002c0008t0001g0280 a0002c0008t0001g0283 a0004c0004t0001g0095 a0004c0004t0001g0234 a0004c0004t0001g0242	20	366	0.0546	-189	c.830 others(17): Show c.830+5687_830+5875del		SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9						chr11	TogoVar
SLC34A1_chr5_177379434_177403848	177396406	GTCTCTCC others(182): Show GTCTCTCCCAGTGCCCCCGCGGAGATCCGCTCTCCCAGTGCCCCCGCGGA GGTCCGCTCTCCCAGTGCCCCCGCGGAGGTCCTCTCTCCCAGTGCCCCCG CGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGGTCCGCTCTCCCAGTGCC CCCGCGGAGGTCCTCTCTCCCAGTGCCCCCGCGGAGGTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(104): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp2 HG02165.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp1 HG03017.hp1 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0125 a0001c0002t0001g0002 a0001c0002t0001g0006 others(31): Show a0001c0001t0001g0125 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0069 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0151	107	432	0.2477	-189	c.117 others(16): Show c.1175-246_1175-58del		SLC34A1	ENSG00000131183.11	transcript	ENST00000324417.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79920151	GAGGAGAG others(182): Show GAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACA GGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAG AGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCA GTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0164 a0001c0001t0005g0164	1	352	0.0028	-189	c.392 others(15): Show c.392-940_392-752del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920228	GAGGAGAG others(182): Show GAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAG TGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01261.hp1 HG01928.hp1 others(2): Show HG00597.hp2 HG01261.hp1 HG01928.hp1 HG02132.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0028	a0001c0001t0001g0260 a0001c0001t0008g0259 a0001c0001t0008g0262 others(2): Show a0001c0001t0001g0260 a0001c0001t0008g0259 a0001c0001t0008g0262 a0001c0001t0010g0171 a0001c0001t0028g0261	5	352	0.0142	-189	c.392 others(16): Show c.392-1017_392-829del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SMYD3_chr1_245744347_246512279	246389563	TAGAGGAC others(182): Show TAGAGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGT TGAAGTCAGTTTCTAGAGGACCTCCTTGTAGAAAGCATTCATTCTTGAAA ATCACCTCAAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCAT TCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0141 a0002c0005t0001g0142 a0002c0003t0001g0141 a0002c0005t0001g0142	2	150	0.0133	-189	c.165 others(19): Show c.165-34658_165-34470del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414926	CACACACA others(182): Show CACACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATA TAGTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACAC ATATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGT ATGTATATACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00735.hp1 others(39): Show HG00099.hp2 HG00558.hp2 HG00735.hp1 HG01433.hp1 HG01516.hp1 HG01952.hp1 HG02080.hp1 HG02451.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG03130.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp1 NA18941.hp1 NA18950.hp1 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18998.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19082.hp1 NA19088.hp1 NA20752.hp2	a0001 a0003 a0010 others(1): Show a0001 a0003 a0010 a0013	a0001c0001 a0001c0005 a0003c0003 others(2): Show a0001c0001 a0001c0005 a0003c0003 a0010c0017 a0013c0012	a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0003c0003t0001 a0010c0017t0001 a0013c0012t0001	a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0145 others(39): Show a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0259 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0005t0001g0139 a0001c0005t0001g0140 a0001c0005t0001g0141 a0001c0005t0001g0142 a0001c0005t0001g0143 a0003c0003t0001g0281 a0003c0003t0001g0288 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0309 a0010c0017t0001g0305 a0013c0012t0001g0162	42	358	0.1173	-189	c.233 others(19): Show c.2334-1822_2334-1634del		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20						chr2	TogoVar
STEAP1B_chr7_22414444_22505188	22433309	TCATTGTA others(182): Show TCATTGTAACCCCAGGGAGAGAGGATTTTCCTGCTCACAAAAGCACAAAG ACAGGTTAGGCCAAACCAGTTTCAAGGAGAGGAGATCTATGTAGGAAAGG GGACCCAAATTGTAACAGCCACAGGACACCTTCCCCCAACTTACTATTTC AAGCCCTTCCACCCCCTCCACATAATGACTCATTGTAACC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0254	1	384	0.0026	-189	c.763 others(19): Show c.763-13662_763-13474del		STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4						chr7	TogoVar
TACR3_chr4_103581031_103724985	103694213	TACACTAT others(182): Show TACACTATGCACATTTATCTAACTGTATGCTTGTGAAGCTTACACCATGC ACACTTATCTATGTGCTTACTTGGGAGTTCCAGGGACTAATCTTGAGACA CACCAAGCATGGAGACCCAGTTGCAAAATTCTGAAGATTACTTCATGGTA GTTAGTCAACAACCCAGCCATTGTTGAGACAATGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02615.hp2 others(7): Show HG02280.hp1 HG02615.hp1 HG02615.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0001c0009 others(2): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0006c0006	a0001c0001t0007 a0001c0001t0010 a0001c0005t0018 others(3): Show a0001c0001t0007 a0001c0001t0010 a0001c0005t0018 a0001c0009t0031 a0001c0010t0009 a0006c0006t0018	a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 others(7): Show a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0246 a0001c0001t0010g0243 a0001c0001t0010g0248 a0001c0005t0018g0245 a0001c0009t0031g0119 a0001c0010t0009g0247 a0006c0006t0018g0128	10	280	0.0357	-189	c.548 others(19): Show c.548+24726_548+24914del		TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	1/4						chr4	TogoVar
THADA_chr2_43225851_43601038	43515144	TATATTTT others(182): Show TATATTTTATATATTATATATAATATATTATATATTATATATAATATATT ATATATAATATATAATATATAATATATTATATATAATATATAATATATAA TATATTATATATAATATATAATATATAATATATAATATATTATATATAAT ATATAATATGTAATATATAATATTTTATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0010 a0007c0007t0002g0010	1	206	0.0049	-189	c.337 others(19): Show c.3375-6553_3375-6365del		THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	22/37						chr2	TogoVar
TIMM22_chr17_992129_1008671	993491	CTCACATA others(182): Show CTCACATAATCCACCCTCACATAATCCACCCTCACATAATCCACCCTCAC ATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCACATAATC CACTCTCACATAATCCGCCTCACATAATCCACCCTCAAATAATCCACCCT CGCATAATCCACACTCACATAATCCACCTCACATAATCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	439	0.0023	-189	c.-36 others(11): Show c.-3651_-3463del		TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding					3637		chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	AGCGAAGG others(182): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03139.hp2 HG01928.hp1 HG03139.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0003 a0007c0007t0009 a0003c0003t0003 a0007c0007t0009	a0003c0003t0003g0362 a0007c0007t0009g0065 a0003c0003t0003g0362 a0007c0007t0009g0065	2	444	0.0045	-189	c.227 others(19): Show c.2277+1462_2277+1650del		TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19						chr17	TogoVar
TMEM221_chr19_17430509_17453668	17430521	TCACTGCA others(182): Show TCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCTGAGTAGCTGGGATTACAAGCATGAACCACTACACCCAGCTAATTTTT GTAGTTTTTGGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCA CTCTGTCGCCAGGCTGGAGTGCAGTGGAGCGATGTCGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02970.hp1 others(2): Show HG02451.hp2 HG02630.hp2 HG02970.hp1 HG03579.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0002c0002t0002	a0001c0001t0001g0022 a0001c0001t0002g0164 a0001c0001t0002g0165 others(2): Show a0001c0001t0001g0022 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0004t0001g0213 a0002c0002t0002g0033	5	422	0.0119	-189	c.57 others(11): Show c.5748_*5936del		TMEM221	ENSG00000188051.7	transcript	ENST00000341130.6	protein_coding					4987		chr19	TogoVar
TRAPPC9_chr8_139722725_140462744	140157179	AAAGCCTC others(182): Show AAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTC CCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCC ATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAA GCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp2 HG00738.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0019 a0001c0004t0001 a0001c0002t0019 a0001c0004t0001	a0001c0002t0019g0032 a0001c0004t0001g0086 a0001c0002t0019g0032 a0001c0004t0001g0086	2	98	0.0204	-189	c.255 others(21): Show c.2556+64091_2556+64279del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22						chr8	TogoVar
TRARG1_chr17_1274662_1305978	1276786	CGTGAGCC others(182): Show CGTGAGCCACCGTGCCCAGCCTGAAACCCCAATTTTTATATGAAATGAAT TTTTAAAATCATGTGTTGAGGCCGGGCGCGGTGGCTCATGCCTGTAATCC CAGAACTTTGGGAGGCAGAGGCGGGTGAATCACCTGAGTTCAGGAGTTTG GGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	402	0.0025	-189	c.-32 others(11): Show c.-3215_-3027del		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding					2875		chr17	TogoVar
TRIM75_chr4_165048866_165065554	165061223	TAATGGAC others(182): Show TAATGGACATTACCGTTAGATACCATGTCAGAGACTAAAAGATGAATCAC TGGGCAGGATGGTATACCTATATTTACTCAGAATGTTTTCTTATAAAGAC AGCTAACATATATTGAGCCCTAACTATGTCCCAGGAGTTGCAGTATTTTC AGAACAACTCTGAGACGTAGGCAGTGTGCTGTTAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp2 HG02572.hp1 others(4): Show HG01109.hp1 HG02451.hp2 HG02572.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0083 others(1): Show a0001c0001t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0083 a0001c0002t0001g0084	7	424	0.0165	-189	c.67 others(9): Show c.670_*858del		TRIM75	ENSG00000250374.5	transcript	ENST00000503032.3	protein_coding					670		chr4	TogoVar
TSNARE1_chr8_142207080_142408182	142229251	GATGGATG others(182): Show GATGGATGGTGGATGGGTGGATGGATGGATGGCAGATGGATAGATGGATG GATGGATGGTGGATGGGTAGATGGATGGACAGATGGACGGTAGACAGGTG GATAAATGGGTGGATGGATAGATGGATGGATGGTGGATGGTTAGATGGAT GGTGGATAGGTGAATGAATGGATGGTGGATGTGCAGATGA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18949.hp1 NA18971.hp1 others(2): Show HG00597.hp2 NA18949.hp1 NA18971.hp1 NA18975.hp1 NA19010.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0018 a0003c0003 a0010c0018	a0003c0003t0002 a0010c0018t0002 a0003c0003t0002 a0010c0018t0002	a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0100 others(2): Show a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0100 a0003c0003t0002g0202 a0010c0018t0002g0026	5	238	0.0210	-189	c.11 others(14): Show c.11+33_*11+221del		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13						chr8	TogoVar
WWOX_chr16_78094654_79217667	78472647	GAAAATAC others(182): Show GAAAATACAAAAATTAGCCAGGAATGGTGGTACACAGCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAAGTGGAGGT TGCAGTGAGCCGAGATCTTGCCATTGTTCTCCAGCCTGGGCGACAAGAGT GAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19088.hp1 NA19011.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0005 a0001c0001t0025 a0002c0002t0005	a0001c0001t0025g0041 a0002c0002t0005g0016 a0001c0001t0025g0041 a0002c0002t0005g0016	2	142	0.0141	-189	c.105 others(21): Show c.1056+39896_1056+40084del		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8						chr16	TogoVar
ZFAND2A_chr7_1147907_1165196	1156112	CGCCCAGC others(182): Show CGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACTG CCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTCCG AAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGA GCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00558.hp1 others(67): Show HG00280.hp1 HG00323.hp1 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03927.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19012.hp2 NA19078.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0010 a0003c0004t0002 a0001c0001t0002 a0001c0001t0010 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0011 others(20): Show a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0010g0061 a0003c0004t0002g0033	70	432	0.1620	-189	c.151 others(15): Show c.151-717_151-529del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZFAND2A_chr7_1147907_1165196	1156160	TGCCCAGC others(182): Show TGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCTGAGCTGGGGGCTC CGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCAAGGCTAAAAACCT GAGCTGGGGGCTCCGAAGGGGTGGACCGCCCAGCAGCTGAAGGCCCAGCA AGGCTAAAAACCTGAGCTGGGGGCTCCGAAGGGGTGGACC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01169.hp2 HG01243.hp2 others(6): Show HG01109.hp2 HG01169.hp2 HG01243.hp2 HG02809.hp2 HG03540.hp2 HG03579.hp2 HG03942.hp1 NA19082.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0003g0056 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0003g0056 a0001c0001t0003g0178 a0001c0002t0004g0019 a0001c0002t0004g0074	9	432	0.0208	-189	c.151 others(15): Show c.151-765_151-577del		ZFAND2A	ENSG00000178381.12	transcript	ENST00000316495.8	protein_coding	3/4						chr7	TogoVar
ZNF516_chr18_76352682_76500242	76393066	GGGGAAGG others(182): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01993.hp2 HG02273.hp1 others(2): Show HG01928.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0156 a0001c0001t0168 others(2): Show a0001c0001t0001 a0001c0001t0156 a0001c0001t0168 a0001c0002t0163 a0001c0002t0167	a0001c0001t0001g0086 a0001c0001t0156g0304 a0001c0001t0168g0087 others(2): Show a0001c0001t0001g0086 a0001c0001t0156g0304 a0001c0001t0168g0087 a0001c0002t0163g0080 a0001c0002t0167g0091	5	346	0.0145	-189	c.181 others(21): Show c.1811-12952_1811-12764del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76393421	AGGCAGGT others(182): Show AGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGC AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp1 HG01496.hp1 HG02809.hp1	a0003 a0020 a0003 a0020	a0003c0007 a0020c0056 a0003c0007 a0020c0056	a0003c0007t0047 a0020c0056t0130 a0003c0007t0047 a0020c0056t0130	a0003c0007t0047g0266 a0020c0056t0130g0068 a0003c0007t0047g0266 a0020c0056t0130g0068	2	346	0.0058	-189	c.181 others(21): Show c.1811-13307_1811-13119del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394279	GGGGAAGG others(182): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0090 a0001c0002t0090	a0001c0002t0090g0119 a0001c0002t0090g0119	1	346	0.0029	-189	c.181 others(21): Show c.1811-14165_1811-13977del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288502	TCTGCCCC others(181): Show TCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG04115.hp2 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0043 a0001c0002t0001g0044	2	295	0.0068	-188	c.48 others(11): Show c.4874_*5061del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3888		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288890	TGTCCCTG others(181): Show TGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCC GTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCG AGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	295	0.0034	-188	c.44 others(11): Show c.4486_*4673del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3500		chr1	TogoVar
ADAMTS19_chr5_129455298_129743683	129578084	ATACATAT others(181): Show ATACATATACATACATATACATATGCATGTATATGTACGTATACGTACAT ATACCTATATGCATGTATATGTACGTATACGTACATATACCTATATGCAT GTATATGTACGTATACGTACATATACCTATATGCATGTATATGTACGTAT ACGTACATATACCTATATGCATGTATATGTACGTATACG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0093 a0002c0004t0001g0093	1	226	0.0044	-188	c.137 others(21): Show c.1373-18465_1373-18278del		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
ADARB2_chr10_1172313_1742525	1238517	CTCTGCCT others(181): Show CTCTGCCTCCCGGTGTTCACTCCCCCCTCCCTCCCGGTGTTCACTCCCCT CTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTCACTCCCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0065	a0002c0002t0065g0086 a0002c0002t0065g0086	1	106	0.0094	-188	c.136 others(19): Show c.1361+3426_1361+3613del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar

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Search Results (Total: 10000 hits)