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
LRRC27_chr10_132327193_132386508	132358818	CGTGGGAA others(158): Show CGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGA GGAGCCGAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG02451.hp2 others(1): Show HG00735.hp1 HG00741.hp1 HG02451.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0173 a0001c0001t0008g0021 a0001c0001t0008g0022 others(1): Show a0001c0001t0001g0173 a0001c0001t0008g0021 a0001c0001t0008g0022 a0001c0001t0008g0024	4	290	0.0138	-165	c.117 others(19): Show c.1171-2638_1171-2474del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1827465	TCGCGGGT others(158): Show TCGCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGTCC TCCCCTCCTGAGCCCGTCCCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGT CCCGGGTGTGGCATCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGTCCT CCCCTCCTGAGCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19060.hp1 NA18984.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0045 a0002c0002t0001g0027 a0002c0002t0001g0045	2	264	0.0076	-165	c.199 others(21): Show c.1999-11402_1999-11238del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827570	GTGTGGCA others(158): Show GTGTGGCATCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGTCCTCCCCT CCTGAGCCCCGCCCGGGTGTGGGGGCCTCCCCTCCTGAGCCCGGCCCGGG TGTGGGGGCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGGCCTCCCCTC CTGAGCCCTGCGTGGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp2 others(10): Show HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01361.hp1 HG02486.hp2 HG03017.hp2 HG03710.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(10): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0226 a0001c0003t0001g0029 a0001c0003t0001g0062 a0001c0003t0001g0095 a0002c0002t0001g0024	13	264	0.0492	-165	c.199 others(21): Show c.1999-11507_1999-11343del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2035988	CGGGACAG others(158): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTCGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTTGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCG GGAGCACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	264	0.0038	-165	c.121 others(21): Show c.1219-21511_1219-21347del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MCC_chr5_113017106_113493453	113106109	GTTCACTA others(158): Show GTTCACTATGCCCCATTCACACTCCTTCCCCTCATTCACTATGCCCCATT CACACTCCTTCCCCTCATTCACTATGCCCCATTCACACTCCTTCCCCTCA TTCACTATGCCCCATTCACACTCCTTCCCCTCATTCACTATGCCCCATTC ACACTCCTTCCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01070.hp1 others(8): Show HG00323.hp2 HG00621.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 NA18947.hp1 NA18957.hp1 NA18983.hp1 NA18986.hp2 NA19002.hp2 NA19074.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0012 a0001c0027 others(5): Show a0001c0004 a0001c0012 a0001c0027 a0002c0002 a0002c0029 a0002c0057 a0004c0019 a0004c0055	a0001c0004t0003 a0001c0012t0013 a0001c0027t0001 others(5): Show a0001c0004t0003 a0001c0012t0013 a0001c0027t0001 a0002c0002t0001 a0002c0029t0001 a0002c0057t0029 a0004c0019t0003 a0004c0055t0005	a0001c0004t0003g0092 a0001c0012t0013g0088 a0001c0012t0013g0090 others(8): Show a0001c0004t0003g0092 a0001c0012t0013g0088 a0001c0012t0013g0090 a0001c0012t0013g0091 a0001c0027t0001g0089 a0002c0002t0001g0143 a0002c0002t0001g0156 a0002c0029t0001g0131 a0002c0057t0029g0118 a0004c0019t0003g0113 a0004c0055t0005g0116	11	160	0.0688	-165	c.102 others(19): Show c.1028-1919_1028-1755del	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	6/18			chr5	TogoVar
MLPH_chr2_237482251_237560322	237544484	TGGGGGGG others(158): Show TGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGGGACAG TTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATTGGG GGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGATTG GGCACTGTAGTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	286	0.0035	-165	c.153 others(19): Show c.1539+1831_1540-1952del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC12_chr7_100964565_101023936	101017992	TCCCTCCC others(158): Show TCCCTCCCCCTGGGACCCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCC CTGGGACCCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCC CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCTTCCCCTTC CCCCTGGGACTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0229 a0229	a0229c0101 a0229c0101	a0229c0101t0001 a0229c0101t0001	a0229c0101t0001g0118 a0229c0101t0001g0118	1	342	0.0029	-165	c.159 others(19): Show c.15966+401_15967-367del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101017992	TCCCTCCC others(158): Show TCCCTCCCCCTGGGACCCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCC CTGGGACCCCTTCCCTTCCCCCTGGGACTCCCTCCCTCCCCCTGGGACCC CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCTTCCCCTTC CCCCTGGGACTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0003 a0004c0030t0003	a0004c0030t0003g0154 a0004c0030t0003g0154	1	366	0.0027	-165	c.-21 others(11): Show c.-2143_-1979del	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		2088		chr7	TogoVar
MYO1F_chr19_8515778_8582442	8543675	CTGGTGGT others(158): Show CTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTG GTGGTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(78): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03492.hp1 HG03516.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18950.hp2 NA18952.hp1 NA18964.hp2 NA18969.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA19065.hp1 NA19079.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0009 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0003t0001 a0001c0003t0019 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0001c0010t0001 a0001c0015t0001	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(78): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0285 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0226 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0323 a0001c0001t0002g0334 a0001c0001t0003g0093 a0001c0001t0003g0132 a0001c0001t0003g0189 a0001c0001t0003g0216 a0001c0001t0004g0070 a0001c0001t0004g0077 a0001c0001t0004g0102 a0001c0001t0004g0108 a0001c0001t0004g0183 a0001c0001t0005g0276 a0001c0001t0006g0236 a0001c0001t0009g0005 a0001c0001t0022g0079 a0001c0003t0001g0124 a0001c0003t0001g0278 a0001c0003t0019g0125 a0001c0006t0001g0309 a0001c0006t0001g0310 a0001c0006t0001g0312 a0001c0006t0002g0311 a0001c0009t0001g0106 a0001c0010t0001g0156 a0001c0015t0001g0178	81	342	0.2368	-165	c.152 others(17): Show c.1524+457_1524+621del	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO9A_chr15_71817291_72123150	72022365	CAAAAATT others(158): Show CAAAAATTAGCTGGGCATCATGACGTGCGCCTGTAGTCCCAGCTACTCTG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGT GAGCCGAGATCACGCTACTGCACTCCAGCCTGGTGACAAGGCGAGACTCT GTCTCAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	308	0.0033	-165	c.999 others(17): Show c.999-1513_999-1349del	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	4/41			chr15	TogoVar
NEU4_chr2_241804193_241822413	241807533	TCCCCCCT others(158): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-165	c.-17 others(11): Show c.-1744_-1580del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1659		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807572	TCCCCCCT others(158): Show TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTTCCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	319	0.0031	-165	c.-17 others(11): Show c.-1705_-1541del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1620		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79525193	TCCTCCCC others(158): Show TCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCAC CGTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTCGTTACCTCTCAGT CCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACC GTCGTTACCCCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01952.hp1 others(5): Show HG00621.hp1 HG01109.hp1 HG01952.hp1 HG02015.hp1 HG02155.hp1 HG03017.hp1 NA18947.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0006t0009 a0002c0002t0009 a0002c0002t0010 a0002c0003t0001	a0001c0001t0002g0035 a0001c0001t0007g0071 a0001c0001t0010g0262 others(5): Show a0001c0001t0002g0035 a0001c0001t0007g0071 a0001c0001t0010g0262 a0001c0001t0016g0173 a0001c0006t0009g0184 a0002c0002t0009g0169 a0002c0002t0010g0278 a0002c0003t0001g0209	8	322	0.0248	-165	c.278 others(19): Show c.2783-2275_2783-2111del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525325	TCCTCCCC others(158): Show TCCTCCCCACGTCCCACCGTCGTTACCCCTCAGGCCTCCCCACGTCCCAC CGTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTCGTTACCTCTCAGT CCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACC GTTGTTACCCCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp2 HG01257.hp1 others(17): Show HG00733.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG02027.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02922.hp1 HG04115.hp1 NA18522.hp2 NA18980.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0001c0015 others(5): Show a0001c0001 a0001c0013 a0001c0015 a0001c0027 a0002c0002 a0002c0047 a0002c0051 a0003c0007	a0001c0001t0021 a0001c0001t0024 a0001c0013t0025 others(11): Show a0001c0001t0021 a0001c0001t0024 a0001c0013t0025 a0001c0015t0002 a0001c0015t0021 a0001c0027t0008 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0031 a0002c0047t0022 a0002c0051t0039 a0003c0007t0008 a0003c0007t0024	a0001c0001t0021g0204 a0001c0001t0024g0171 a0001c0013t0025g0046 others(17): Show a0001c0001t0021g0204 a0001c0001t0024g0171 a0001c0013t0025g0046 a0001c0015t0002g0067 a0001c0015t0021g0238 a0001c0027t0008g0013 a0001c0027t0008g0030 a0002c0002t0001g0215 a0002c0002t0002g0054 a0002c0002t0003g0187 a0002c0002t0031g0115 a0002c0047t0022g0229 a0002c0051t0039g0132 a0003c0007t0008g0017 a0003c0007t0008g0019 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031 a0003c0007t0008g0032 a0003c0007t0024g0146	20	322	0.0621	-165	c.278 others(19): Show c.2783-2170_2783-2006del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NKD2_chr5_1003802_1043943	1022346	TCAGCCCA others(158): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCGT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCGCTGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCAC CCGCTAGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02602.hp1 HG04115.hp1 others(1): Show HG02523.hp2 HG02602.hp1 HG04115.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0258 others(1): Show a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0260	4	319	0.0125	-165	c.142 others(17): Show c.142-9799_142-9635del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NPRL3_chr16_80386_143673	141722	TGCCCGCC others(158): Show TGCCCGCCACCACACCAGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGC AAGCTCCACCTCCCAGGTTCACACCATTCTCCTGCCTCAGCCTCCCCAGT AGCTGAGACTACAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	350	0.0029	-165	c.-33 others(11): Show c.-3313_-3149del	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3050		chr16	TogoVar
ODF3L2_chr19_458361_479983	473438	ATCACAGA others(158): Show ATCACAGATGGGGAGACTGAGGCCTGAGCCTCCCAGAGATACACGGTCAC AGATGGGGAAACTGAGGGCCAGGCAGAGAAACACGGTCACAGATGGGGAG ACTGAGGCCCAGGCAGAGATACACGGTCACAGATCGGGAAACTGAGGCCC AGGCAGAGATACACAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	324	0.0062	-165	c.127 others(16): Show c.127+1018_128-938del	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
ODF3L2_chr19_458361_479983	473603	GTCACAGA others(158): Show GTCACAGATGGGGAGACTGAGGCCTGAGCCTCCCAGAGATACACGGTCAC AGATGGGGAGACTGAGGCCCAGGCAGAGATACATGGTCACAGATGGGGAA ACTGAGGCCCAGGCAGAGATACACGATCACAGATGGGGAGACTGAGGCCC AGGCAGAGATACACGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19030.hp1 HG03486.hp1 NA19030.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0010 a0002c0002 a0006c0010	a0002c0002t0002 a0006c0010t0004 a0002c0002t0002 a0006c0010t0004	a0002c0002t0002g0167 a0006c0010t0004g0168 a0002c0002t0002g0167 a0006c0010t0004g0168	2	324	0.0062	-165	c.127 others(16): Show c.127+853_127+1017del	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
OPHN1_chrX_68037344_68438495	68325663	CTTTCCGT others(158): Show CTTTCCGTTTCCCTTTTCCTTTCCCGTTTTCCTTATCCGTTTCCGTTTTC CTTTTCCTTTTCCGTTTTCCATTTCCTTTTCCATTATCCATATCCTTGTC CGGTGTCCTTTTCCGTGTCCGGTATCCTTCTCCTTTTCCCGTATCCTTGT CCATGTCCCGTGTCCA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	155	0.0065	-165	c.155 others(19): Show c.155-26732_155-26568del	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468822	CCCTTCCC others(158): Show CCCTTCCCTCTCCCCTCACCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCTTCCCTCTCCCCTCT CCCCTCCCCTTCCCTCTCTCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCCTCTCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0058 a0002c0005t0006g0058	1	114	0.0088	-165	c.-24 others(17): Show c.-24-2405_-24-2241del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PCMTD2_chr20_64250748_64281226	64270893	CCTTCTGA others(158): Show CCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTA CAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTTGTGATACGTACAAT GGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTTGTGATACGTA CAATGGTACAGTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	332	0.0030	-165	c.707 others(17): Show c.707-2325_707-2161del	PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
PCNT_chr21_46319156_46450769	46414599	TGCTCCTC others(158): Show TGCTCCTCCTCCTCCTCCTGGACACACAGCCGCCCACTCTCCTCCTCCTG GACATGCAGCCACCCACCCTGCTCCTCCTCCTCCTCCTGGACACACAGCT GCCCACACTCCTCCTCCTGGACACACAGCTGCCCACCCTCCTCCTCCTGG ACACGCAGCCGCCCAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0104 a0004c0004t0001g0104	1	332	0.0030	-165	c.615 others(19): Show c.6151-1469_6151-1305del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46			chr21	TogoVar
PCSK6_chr15_101298933_101494707	101334169	CGACACAG others(158): Show CGACACAGGAAGTTGTTCTCACCGCTGCAGCAGTGACACAGGAAGTTGTT CTCACCGCTGCAGCAGTGACACAGGAAGTTGTTCTCACCGCTGCAGCAGT GACACAGGAAGTTGTTCTCACCGCTGCAGCAGTGACACAGGAAGTTGTTC TCACCGCTGCAGCAGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp2 HG00639.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0002g0301 a0001c0009t0001g0227 a0001c0001t0002g0301 a0001c0009t0001g0227	2	336	0.0060	-165	c.185 others(19): Show c.1859-2303_1859-2139del	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	13/21			chr15	TogoVar
PITPNM3_chr17_6446263_6561555	6519181	CAAAAAAT others(158): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG03139.hp2 others(3): Show HG01891.hp1 HG02717.hp1 HG03139.hp2 NA18522.hp1 NA19012.hp2 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0009 others(1): Show a0001c0001 a0001c0002 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0015 a0001c0002t0003 a0001c0002t0011 a0002c0009t0006 a0003c0008t0097	a0001c0001t0001g0021 a0001c0001t0015g0112 a0001c0002t0003g0061 others(3): Show a0001c0001t0001g0021 a0001c0001t0015g0112 a0001c0002t0003g0061 a0001c0002t0011g0146 a0002c0009t0006g0063 a0003c0008t0097g0172	6	218	0.0275	-165	c.226 others(17): Show c.226+6010_226+6174del	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	3/19			chr17	TogoVar
PLBD2_chr12_113353587_113396629	113386291	CGATTCTT others(158): Show CGATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCC ACCACGCCGGCTAATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTG TCGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTTGCTGCAACCTCTG CTTCCCGGGTTCAAGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02572.hp1 others(10): Show HG01243.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02818.hp1 HG03579.hp1 HG03834.hp1 HG03834.hp2 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 a0001c0001 a0001c0006 a0001c0014	a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 others(7): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0006t0013 a0001c0014t0029	a0001c0001t0012g0189 a0001c0001t0012g0190 a0001c0001t0013g0209 others(10): Show a0001c0001t0012g0189 a0001c0001t0012g0190 a0001c0001t0013g0209 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0017g0166 a0001c0001t0017g0208 a0001c0001t0024g0188 a0001c0001t0027g0187 a0001c0001t0028g0192 a0001c0001t0034g0146 a0001c0006t0013g0207 a0001c0014t0029g0177	13	278	0.0468	-165	c.128 others(17): Show c.1287-565_1287-401del	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLPP1_chr5_55419854_55539964	55521320	CCAGCCTG others(158): Show CCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAATT GGCCAGGCATGGTGGTGCACACCTGCAGTCCTTGCCACTCGTGGAGGCTG AGGTGGGAAAATCACTTGAGTCTGGGAGGTCAAGGCTGCAGTGAGCTGTG ATCATGCTACTGCACT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02109.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	294	0.0068	-165	c.58+ others(17): Show c.58+13087_58+13251del	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5			chr5	TogoVar
PPP2R3B_chrX_328933_391907	364575	GGGTGTGG others(158): Show GGGTGTGGTGGAGGGTGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATCGCTTCAACACAGGAGGCGGAGGTTGCAGTGAGCTGAGATCGC ACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAACAA AACAAACGATTAACCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	25	0.0400	-165	c.325 others(17): Show c.325-3150_325-2986del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	366427	AGAGGCTG others(158): Show AGAGGCTGAGGCAGGAGAATCGCTTCAACACAGGAGGCGGAGGGTGCAGT GAGCTGAGATCGCACTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC TGTCTCAAAACAAAACAAACGATTAACCAGGTGTGGTGGAGGGTGCCTGT ACTCCCAGCTACTCGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	1	25	0.0400	-165	c.325 others(17): Show c.325-5002_325-4838del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRDM15_chr21_41793225_41884344	41855950	CTCCCTCC others(158): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTC CCTTCCTTCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCC TTCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTCCCTCCCCTCCCTC CCTTCCTTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG01884.hp2 others(15): Show HG00741.hp2 HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02738.hp2 HG02896.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03669.hp1 HG06807.hp2 NA18522.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0001c0006 others(5): Show a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0001c0016 a0001c0030 a0003c0022	a0001c0002t0027 a0001c0002t0044 a0001c0005t0030 others(7): Show a0001c0002t0027 a0001c0002t0044 a0001c0005t0030 a0001c0006t0005 a0001c0006t0013 a0001c0011t0010 a0001c0013t0001 a0001c0016t0008 a0001c0030t0008 a0003c0022t0001	a0001c0002t0027g0016 a0001c0002t0027g0017 a0001c0002t0044g0014 others(14): Show a0001c0002t0027g0016 a0001c0002t0027g0017 a0001c0002t0044g0014 a0001c0005t0030g0037 a0001c0006t0005g0002 a0001c0006t0005g0039 a0001c0006t0005g0041 a0001c0006t0013g0038 a0001c0011t0010g0389 a0001c0013t0001g0018 a0001c0016t0008g0040 a0001c0016t0008g0052 a0001c0016t0008g0058 a0001c0016t0008g0062 a0001c0030t0008g0167 a0003c0022t0001g0342 a0003c0022t0001g0343	18	406	0.0443	-165	c.285 others(17): Show c.285+1061_286-1133del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKCA_chr17_66297613_66815743	66798407	ATGGTGAT others(158): Show ATGGTGATGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGACGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGG TGACGGTGGTGACGGTGGTGGTGATGGTGGTGACGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0101 a0001c0003t0004g0101	1	178	0.0056	-165	c.185 others(19): Show c.1855-5439_1855-5275del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTPRT_chr20_42067756_43194906	42508940	AATATAAT others(158): Show AATATAATTTATATTTAATTTATAGATATAAATTATATAATTTATATTTA ATTTATAGATATAAATTATATAATTTATATTTAATTTATAGATATAAATT ATATAATTTATATTTAATTTATAGATATAAATCATATAATTTATATTTAA TTTATAGATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG02109.hp2 others(5): Show HG00140.hp2 HG00438.hp1 HG02109.hp2 HG02155.hp2 HG02647.hp2 HG02922.hp1 HG03540.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0030 others(3): Show a0001c0002 a0001c0003 a0001c0030 a0002c0001 a0002c0005 a0002c0009	a0001c0002t0014 a0001c0003t0018 a0001c0030t0001 others(5): Show a0001c0002t0014 a0001c0003t0018 a0001c0030t0001 a0002c0001t0002 a0002c0001t0019 a0002c0001t0026 a0002c0005t0012 a0002c0009t0001	a0001c0002t0014g0052 a0001c0003t0018g0046 a0001c0030t0001g0035 others(5): Show a0001c0002t0014g0052 a0001c0003t0018g0046 a0001c0030t0001g0035 a0002c0001t0002g0025 a0002c0001t0019g0023 a0002c0001t0026g0012 a0002c0005t0012g0009 a0002c0009t0001g0018	8	62	0.1290	-165	c.115 others(21): Show c.1154-36543_1154-36379del	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79283975	ACATTTGC others(158): Show ACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAGGACCA TTGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAG GACCATCGTATCATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTC TCCAGGACCATCGTAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp2 HG02280.hp2 others(7): Show HG00639.hp2 HG01109.hp2 HG02280.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp2 NA18945.hp1 NA18971.hp2 NA18983.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0002t0004 a0001c0005t0003	a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0004g0089 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0077 a0001c0001t0004g0089 a0001c0001t0004g0095 a0001c0001t0008g0117 a0001c0001t0013g0070 a0001c0001t0014g0027 a0001c0001t0021g0026 a0001c0002t0004g0098 a0001c0005t0003g0075	10	154	0.0649	-165	c.-74 others(19): Show c.-74+23584_-74+23748del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RNF169_chr11_74743849_74847413	74803024	CATTCTCC others(158): Show CATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCA CCATGCCAGGCTAATTTTCTTTTTTTTTTTTTGAGATAGAGTCTTGCTTT GTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTGCTCACTGCAAGCTCCGC CTCCTGGGTTCATGCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG02145.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0145 a0001c0001t0023g0148 a0001c0001t0023g0145 a0001c0001t0023g0148	2	354	0.0057	-165	c.577 others(17): Show c.577-7139_577-6975del	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF213_chr17_80255852_80403794	80314703	CTGGAGGT others(158): Show CTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGTGATGGT GGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGG TGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTG GTGGTGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03486.hp2 NA18906.hp2 HG02897.hp2 HG03486.hp2 NA18906.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0024 a0017c0019t0024	a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278	3	292	0.0103	-165	c.281 others(19): Show c.2811+1552_2811+1716del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314863	AGGTAATG others(158): Show AGGTAATGGAGGTGATGGTGGTGGTGGAGGTGATGGTGGAGGTACTGGAG GTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGATGGTGGT CGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGG TACTGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02040.hp2 others(9): Show HG00438.hp1 HG00673.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02818.hp1 HG03453.hp2 HG03490.hp2 NA18947.hp1 NA18975.hp1 NA19010.hp2	a0002 a0005 a0024 others(5): Show a0002 a0005 a0024 a0025 a0031 a0061 a0067 a0077	a0002c0002 a0002c0010 a0002c0121 others(7): Show a0002c0002 a0002c0010 a0002c0121 a0005c0007 a0024c0026 a0025c0038 a0031c0023 a0061c0122 a0067c0056 a0077c0081	a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 others(9): Show a0002c0002t0003 a0002c0010t0004 a0002c0010t0010 a0002c0121t0004 a0005c0007t0003 a0024c0026t0007 a0025c0038t0006 a0031c0023t0006 a0031c0023t0012 a0061c0122t0004 a0067c0056t0003 a0077c0081t0002	a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 others(9): Show a0002c0002t0003g0111 a0002c0010t0004g0077 a0002c0010t0010g0212 a0002c0121t0004g0067 a0005c0007t0003g0209 a0024c0026t0007g0191 a0025c0038t0006g0013 a0031c0023t0006g0248 a0031c0023t0012g0246 a0061c0122t0004g0075 a0067c0056t0003g0152 a0077c0081t0002g0269	12	292	0.0411	-165	c.281 others(19): Show c.2811+1700_2811+1864del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPH3AL_chr17_207389_357807	296079	ACACATCA others(158): Show ACACATCAGTGTGGGAGGGACAGAGGAGCTGCAGAAATGGATGGACAGAG GGAATGCACATCAGTGTGGGAGGGACAGAGGAGCTGCAGACATGAACGGG CAGAGGGAATGCACATCGGTGTGGGAGGGACAGAGGAGCTGCAGAAATGG ATGGACAGAGGGAATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp1 NA18995.hp2 others(2): Show HG00408.hp1 NA18959.hp1 NA18995.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0026 a0001c0001t0001 a0001c0001t0002 a0001c0004t0026	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0110 a0001c0001t0002g0029 a0001c0004t0026g0013	5	133	0.0376	-165	c.352 others(19): Show c.352-14390_352-14226del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748234	AGGGGCTG others(158): Show AGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTG GATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGCCTGTT GGGTGGATGGGGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGGC CTGTTGGGTGGATGGG	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0097 a0001c0097	a0001c0097t0001 a0001c0097t0001	a0001c0097t0001g0157 a0001c0097t0001g0157	1	196	0.0051	-165	c.655 others(17): Show c.655-5698_655-5534del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748316	GTGGCGGG others(158): Show GTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTGTTTGG AGGCCGTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGTGTGTG TTTGGAGGCCGTGGCGGGAGGGCCTGTTGGGTGGATGGGGGGGCTGCGGT GTGTGTTTGGAAGCCT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01167.hp1 others(12): Show HG00140.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01517.hp1 HG01934.hp2 HG02258.hp1 HG02486.hp1 HG02683.hp1 HG02976.hp2 HG03654.hp2 NA18906.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0011 others(7): Show a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0021 a0001c0027 a0001c0033 a0001c0039 a0001c0044 a0001c0049	a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 others(11): Show a0001c0004t0014 a0001c0004t0023 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0015t0046 a0001c0021t0018 a0001c0021t0079 a0001c0027t0016 a0001c0027t0096 a0001c0033t0023 a0001c0039t0061 a0001c0044t0045 a0001c0049t0011	a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 others(12): Show a0001c0004t0014g0081 a0001c0004t0014g0098 a0001c0004t0023g0074 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0015t0046g0079 a0001c0021t0018g0014 a0001c0021t0079g0005 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0033t0023g0075 a0001c0039t0061g0177 a0001c0044t0045g0080 a0001c0049t0011g0078	15	196	0.0765	-165	c.655 others(17): Show c.655-5674_655-5510del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289694	TGTCTCTG others(158): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCC CGTGTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19079.hp1 NA18970.hp1 NA19079.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0013 a0003c0004 a0009c0013	a0003c0004t0003 a0009c0013t0001 a0003c0004t0003 a0009c0013t0001	a0003c0004t0003g0144 a0009c0013t0001g0078 a0003c0004t0003g0144 a0009c0013t0001g0078	2	290	0.0069	-165	c.166 others(17): Show c.1663-555_1663-391del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289716	CCTGCTCC others(158): Show CCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0259 a0001c0046t0001g0259	1	290	0.0035	-165	c.166 others(17): Show c.1663-542_1663-378del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43281231	CTGTCACC others(158): Show CTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTG TCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCT GTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTC ATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG06807.hp1 others(1): Show HG02559.hp1 HG02559.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0014 a0001c0004 a0002c0002 a0002c0014	a0001c0004t0004 a0002c0002t0031 a0002c0014t0026 others(1): Show a0001c0004t0004 a0002c0002t0031 a0002c0014t0026 a0002c0014t0078	a0001c0004t0004g0233 a0002c0002t0031g0007 a0002c0014t0026g0130 others(1): Show a0001c0004t0004g0233 a0002c0002t0031g0007 a0002c0014t0026g0130 a0002c0014t0078g0261	4	280	0.0143	-165	c.484 others(17): Show c.484+9650_484+9814del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SECTM1_chr17_82316024_82338766	82319344	ATGTGTGT others(158): Show ATGTGTGTGCAGAGACGGGTGCGTGTGGACACGCGTGTGTGCAGAGACGG GTGCGCATGGCTCCACGCATGTGCAGAGACGGGTGTGCGTGACTCCACAC GTGTTTGCAGAGACGGGTGCATGTGAACACGTGTGTGTGCAGAGACGGGT GTGCGTGACTCGCGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0105 a0006c0005t0001g0105	1	374	0.0027	-165	c.26 others(11): Show c.2652_*2816del	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		1679		chr17	TogoVar
SIGIRR_chr11_400716_419999	411803	GGTGCCCA others(158): Show GGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCGGGGGGGGGGCTC AGCTCTGACCATGTCTGGATACAGTCGGGGAGGGGGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGGGGGGGGGGGTGCTCAGCTCTGACCATGTC TGGATGCAGTCGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	242	0.0041	-165	c.-15 others(19): Show c.-153-1941_-153-1777del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC13A3_chr20_46552828_46656459	46656293	AATATACT others(158): Show AATATACTATACAGTATATATTATACTGTATATGATATACTATACAGTAT ATATTATACTGTATATGATATACTATACAGTATATATTATACTGTATATG ATATACTATACAGTATATATTATACTGTATATGATATACTATACAGTATA TATTATACTGTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0022 a0007c0022	a0007c0022t0004 a0007c0022t0004	a0007c0022t0004g0241 a0007c0022t0004g0241	1	390	0.0026	-165	c.-50 others(11): Show c.-5037_-4873del	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4835		chr20	TogoVar
SLC17A9_chr20_62947709_62974585	62966030	ATGGTGTG others(158): Show ATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGG TTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGC TCGGGTTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTT GGGGCTCGGGTTGGCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG03098.hp1 others(1): Show HG01891.hp1 HG02055.hp1 HG03098.hp1 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0012 a0004c0016t0033 a0001c0001t0012 a0004c0016t0033	a0001c0001t0012g0037 a0001c0001t0012g0097 a0004c0016t0033g0085 a0001c0001t0012g0037 a0001c0001t0012g0097 a0004c0016t0033g0085	4	432	0.0093	-165	c.106 others(17): Show c.1061+360_1062-276del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC17A9_chr20_62947709_62974585	62966085	GTGGTGTG others(158): Show GTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGCTCGGG TTGGCATGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTTGGGGC TCGGGTTGGCGTGGTGTGCAGGGCTGCAGTGCTCTGGCCAGTGGGTGGTT GGGGCTCGGGTTGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(127): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18992.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19080.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0004c0009 a0004c0015 a0005c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(16): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0020 a0001c0002t0002 a0001c0002t0017 a0001c0002t0024 a0001c0002t0025 a0001c0003t0002 a0001c0003t0006 a0001c0003t0018 a0001c0003t0026 a0001c0008t0002 a0001c0010t0002 a0004c0009t0027 a0004c0015t0023 a0005c0006t0009	a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0080 others(75): Show a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0096 a0001c0001t0002g0117 a0001c0001t0002g0133 a0001c0001t0002g0153 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0006g0030 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0084 a0001c0001t0006g0098 a0001c0001t0008g0012 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0013g0106 a0001c0001t0013g0166 a0001c0001t0013g0169 a0001c0001t0017g0012 a0001c0001t0020g0191 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0052 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0068 a0001c0002t0002g0083 a0001c0002t0002g0091 a0001c0002t0002g0104 a0001c0002t0002g0140 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0185 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0205 a0001c0002t0002g0211 a0001c0002t0017g0188 a0001c0002t0024g0007 a0001c0002t0025g0003 a0001c0003t0002g0003 a0001c0003t0002g0014 a0001c0003t0002g0025 a0001c0003t0002g0039 a0001c0003t0002g0059 a0001c0003t0002g0105 a0001c0003t0002g0147 a0001c0003t0002g0165 a0001c0003t0002g0173 a0001c0003t0006g0186 a0001c0003t0006g0187 a0001c0003t0018g0025 a0001c0003t0018g0164 a0001c0003t0026g0170 a0001c0008t0002g0194 a0001c0010t0002g0082 a0004c0009t0027g0092 a0004c0015t0023g0099 a0005c0006t0009g0011	130	432	0.3009	-165	c.106 others(17): Show c.1062-385_1062-221del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC19A1_chr21_45507565_45547440	45527552	CCAGTTAC others(158): Show CCAGTTACTGCAGGCCCTGGAGGTGAGTGGCAGCAGGGCAGGGTGGGCCC TGGAGGTGAGTGGCAGCCAGGCAGGGCGGGCCCTGGAGGTGAGTGGCAGT CAGTTACTGCGGGCCCTGGAGGTGAGTGGCAGCCAGGCAGGGCGGGCCCT GGAGGTGAGTGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01952.hp1 HG02109.hp2 others(14): Show HG01496.hp2 HG01952.hp1 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02897.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0004 a0002c0002 a0003c0005 others(1): Show a0001c0004 a0002c0002 a0003c0005 a0006c0009	a0001c0004t0009 a0001c0004t0022 a0001c0004t0023 others(8): Show a0001c0004t0009 a0001c0004t0022 a0001c0004t0023 a0001c0004t0024 a0001c0004t0034 a0001c0004t0035 a0002c0002t0002 a0002c0002t0016 a0002c0002t0019 a0003c0005t0013 a0006c0009t0009	a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 others(14): Show a0001c0004t0009g0264 a0001c0004t0009g0265 a0001c0004t0009g0266 a0001c0004t0022g0267 a0001c0004t0023g0058 a0001c0004t0024g0057 a0001c0004t0034g0239 a0001c0004t0035g0228 a0002c0002t0002g0182 a0002c0002t0016g0069 a0002c0002t0016g0242 a0002c0002t0019g0122 a0002c0002t0019g0240 a0003c0005t0013g0245 a0003c0005t0013g0246 a0003c0005t0013g0269 a0006c0009t0009g0263	17	318	0.0535	-165	c.115 others(19): Show c.1152-1759_1152-1595del	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45527563	AGGCCCTG others(158): Show AGGCCCTGGAGGTGAGTGGCAGCAGGGCAGGGTGGGCCCTGGAGGTGAGT GGCAGCCAGGCAGGGCGGGCCCTGGAGGTGAGTGGCAGTCAGTTACTGCG GGCCCTGGAGGTGAGTGGCAGCCAGGCAGGGCGGGCCCTGGAGGTGAGTG GCAGTCAGTTACTGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG04199.hp2 HG01884.hp2 HG02486.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0020 a0001c0007t0021 a0002c0002t0030 a0001c0007t0020 a0001c0007t0021 a0002c0002t0030	a0001c0007t0020g0160 a0001c0007t0021g0259 a0002c0002t0030g0150 a0001c0007t0020g0160 a0001c0007t0021g0259 a0002c0002t0030g0150	3	318	0.0094	-165	c.115 others(19): Show c.1152-1770_1152-1606del	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC9A3_chr5_465456_529449	487054	CCCACCAC others(158): Show CCCACCACACTGACACCCACCGCACTGACACCCACCACACTGACACCGTG ATCCAGACCGCACTGACACCCACCACACTGACACCCACCGCACTGACACC CACCACACTGACACCGTGATCCAGACCGCACTGACACCCACCACACTGAC ACCCACCGCACTGACA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0098 a0002c0002t0002g0098	1	218	0.0046	-165	c.675 others(17): Show c.675+1097_675+1261del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	3/16			chr5	TogoVar
SPINK4_chr9_33235167_33253567	33251886	GAGAAGGG others(158): Show GAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCT CCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGA AGAAGGGGTGCTCTCTCCCCTTCTCACGGGAGAAGAAGGGGTGCTCTCTC CCCTTCTCACGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01168.hp1 others(32): Show HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01496.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02738.hp2 HG02818.hp1 HG03195.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18952.hp1 NA18960.hp1 NA18965.hp2 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18989.hp1 NA18998.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19068.hp2 NA19081.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0021 a0002c0002t0002g0003 a0002c0002t0002g0007 others(13): Show a0001c0001t0001g0021 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0080 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0089	35	378	0.0926	-165	c.34 others(11): Show c.3416_*3580del	SPINK4	ENSG00000122711.9	transcript	ENST00000379721.4	protein_coding		3320		chr9	TogoVar

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Search Results (Total: 10000 hits)