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
ASAP1_chr8_130047104_130448674	130049350	TGGGGGCA others(263): Show TGGGGGCAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGG GCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGGGAACACATG GAGGGCAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03130.hp2 HG02717.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0171 a0001c0001t0001g0172	2	308	0.0065	-270	c.51 others(11): Show c.5111_*5380del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2753		chr8	TogoVar
BCL11A_chr2_60452194_60558654	60467642	ATGGTGGT others(263): Show ATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGT GGTGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGG TAGTGATGGTGGTGGTAATGGTGGTGGTGGAGATGGTGGTGTTGATGGTG ATGGTACTGGTGGTGATGGTACTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGATGCTACTGGTGGTGATGGTACTGGTGGTGATGGTGGTGGTGGTAG TGATGGTGGTGGTAATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02559.hp1 NA20752.hp2 HG01261.hp2 HG02559.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0036 a0001c0001t0007 a0001c0001t0010 a0001c0001t0036	a0001c0001t0007g0111 a0001c0001t0010g0050 a0001c0001t0036g0083 a0001c0001t0007g0111 a0001c0001t0010g0050 a0001c0001t0036g0083	3	262	0.0115	-270	c.487 others(16): Show c.487+820_487+1089del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BOP1_chr8_144257045_144296438	144281114	TCTCAGTT others(263): Show TCTCAGTTTAATACCAGGTCTTAGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01975.hp1 HG00609.hp1 HG01109.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0313 a0001c0001t0001g0326 a0001c0001t0001g0213 a0001c0001t0001g0313 a0001c0001t0001g0326	3	398	0.0075	-270	c.310 others(17): Show c.310-5080_310-4811del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281136	AGGCCTTC others(263): Show AGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	398	0.0025	-270	c.310 others(17): Show c.310-5102_310-4833del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281166	CGGCCTTC others(263): Show CGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTT TGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00735.hp2 others(18): Show HG00438.hp2 HG00639.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG02698.hp1 HG03017.hp2 HG03486.hp2 HG03688.hp2 HG04199.hp1 NA18963.hp2 NA18968.hp1 NA19002.hp1 NA19007.hp1 NA19085.hp1 NA19087.hp2 NA20805.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0014c0019 a0001c0001 a0001c0002 a0014c0019	a0001c0001t0001 a0001c0002t0001 a0014c0019t0001 a0001c0001t0001 a0001c0002t0001 a0014c0019t0001	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0177 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0001g0177 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0300 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0346 a0001c0001t0001g0359 a0001c0001t0001g0363 a0001c0002t0001g0041 a0014c0019t0001g0283	21	398	0.0528	-270	c.310 others(17): Show c.310-5132_310-4863del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281174	CCTCACTT others(263): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC TCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTC ATACCAGGTCTTTGGCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 NA18945.hp1 HG00099.hp2 HG00280.hp2 NA18945.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0178 a0001c0001t0001g0250 a0004c0007t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0250 a0004c0007t0001g0176	3	398	0.0075	-270	c.310 others(17): Show c.310-5140_310-4871del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281213	AATACCAG others(263): Show AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGT CTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTT AATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTT CTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGT CTTCGGCCTTCTCTCACTTTC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02071.hp1 HG02735.hp1 others(1): Show HG01433.hp1 HG02071.hp1 HG02735.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0203 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0203 a0001c0001t0001g0253 a0001c0001t0001g0284	4	398	0.0101	-270	c.310 others(17): Show c.310-5179_310-4910del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
BOP1_chr8_144257045_144296438	144281226	CGGCCTTC others(263): Show CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTCTC TCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTT CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCAT ACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCTC TCACTTTCATACCAGGTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(4): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG01515.hp1 HG01517.hp1 HG02083.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0214 a0001c0001t0001g0215 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0266 a0001c0001t0001g0290	7	398	0.0176	-270	c.310 others(17): Show c.310-5192_310-4923del		BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15						chr8	TogoVar
C1orf159_chr1_1076823_1121089	1078411	GGGGAGGC others(263): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 NA18906.hp2 HG01891.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0288 a0001c0001t0003g0285 a0001c0001t0003g0288	2	326	0.0061	-270	c.42 others(11): Show c.4212_*4481del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3411		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078740	GGGGGAGG others(263): Show GGGGGAGGCTGAGGCTATGGGCACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGAGGGGTGGCT GAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGG GGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	326	0.0031	-270	c.38 others(11): Show c.3883_*4152del		C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding					3082		chr1	TogoVar
C7orf50_chr7_992006_1143247	1115608	AGGGATGG others(263): Show AGGGATGGCTTCCATCACCAACGCCCACGCAGGATGATGACATCACTACA GCTCTAGGACCGGCTTCCATCACCAACGCCCACGCAGGATGACTTCACTA CAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACA TCACTACAGCACTACGGACCGGCTTCCATCACCAACGCCCACGCAGGATG ACATCACTACAGCTCTAGGGATGGCTTCCATCACCGACGCCCACGCAGGA TGATGACATCACTACAGCTCT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0126	1	326	0.0031	-270	c.129 others(19): Show c.129+11379_129+11648del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CACNG7_chr19_53904278_53948950	53922387	GAGTTGTC others(263): Show GAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCAT TGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGT CATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAG GACTGGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCAGTTGTC CCCAGGCCTGGTCATTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02257.hp2 HG01884.hp2 HG01891.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0001g0032 a0001c0001t0003g0003 a0001c0001t0003g0027	3	364	0.0082	-270	c.424 others(17): Show c.424+6892_424+7161del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
CCDC183_chr9_136791338_136812741	136803010	CTGGGGGC others(263): Show CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGG	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18955.hp1 NA19240.hp2 HG04115.hp2 NA18955.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0159 a0001c0001t0001g0012 a0001c0001t0001g0159	3	398	0.0075	-270	c.666 others(15): Show c.666+225_666+494del		CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13						chr9	TogoVar
CDC123_chr10_12191188_12255589	12247085	CAGGACAC others(263): Show CAGGACACTGTCCTCCTCTCTCACCTCCCACTCCAGACACTGTGTCCTCC TCTCTCTCACCTCCCCCTCAGGGCACCGTGTCCCCCTCTCTCACCTCCCC CTCAGGACACTGTCCTCCTCTCTCACCTCCCACTCTGGACACTGTGTCCT CCTCTCTCTCACCTCCCCCTCAGGACACTGTCCTCCTCTCTCACCTCCCA CTCCGGACACTGTGTCCTCCTCTCTCACCTCCCCCTCAGGACACTGTGTC CTCCTCTCTCACCTCCCCCTA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(142): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18995.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19078.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(131): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0005g0001 a0001c0001t0005g0012 a0001c0001t0005g0121 a0001c0001t0005g0164 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0221 a0001c0001t0005g0237 a0001c0001t0005g0240 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0301 a0001c0001t0005g0351 a0001c0001t0005g0352 a0001c0001t0007g0191 a0001c0001t0007g0238 a0001c0001t0007g0354	145	392	0.3699	-270	c.846 others(16): Show c.846+823_846+1092del		CDC123	ENSG00000151465.14	transcript	ENST00000281141.9	protein_coding	11/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CDK12_chr17_39456486_39539544	39498938	TCTTTCTT others(263): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	260	0.0039	-270	c.242 others(19): Show c.2420-2311_2420-2042del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13						chr17	TogoVar
CDK12_chr17_39456486_39539544	39498939	CTTTCTTT others(263): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	260	0.0039	-270	c.242 others(19): Show c.2420-2307_2420-2038del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(263): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATAT GTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19082.hp1 HG02523.hp2 NA19082.hp1	a0002 a0002	a0002c0003 a0002c0091 a0002c0003 a0002c0091	a0002c0003t0001 a0002c0091t0001 a0002c0003t0001 a0002c0091t0001	a0002c0003t0001g0155 a0002c0091t0001g0138 a0002c0003t0001g0155 a0002c0091t0001g0138	2	268	0.0075	-270	c.909 others(19): Show c.9097-1867_9097-1598del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNST_chr1_246561456_246673595	246620149	ACTACAGG others(263): Show ACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCTCTGG GCACACTACAGGGAGGACGGCTTCATCGTGGTGCATACACACGATGGGCT CTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACACACGATG GGCTCTGGGAACACTACAGGGAGGACGGCTTCAGTCGTGCATACACACGA TGGGCTCTGGGAACACTCTACAGGGAGGACGGCTTCAGTCGTGCATACAC ACGATGGGCTCTGGGCACACT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02647.hp2 HG02809.hp2 others(5): Show HG00735.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03209.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020	a0001c0001t0001g0177 a0001c0001t0004g0014 a0001c0001t0004g0015 others(5): Show a0001c0001t0001g0177 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0005g0023 a0001c0001t0008g0021 a0001c0001t0020g0024	8	320	0.0250	-270	c.380 others(16): Show c.380-1259_380-990del		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COBL_chr7_51011212_51321809	51203205	TAAAAAAA others(263): Show TAAAAAAAAAACTCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01261.hp2 others(13): Show HG00099.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp2 HG02280.hp1 HG02630.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 NA18522.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0010 a0012 a0016 a0023	a0001c0004 a0002c0003 a0003c0001 others(9): Show a0001c0004 a0002c0003 a0003c0001 a0003c0031 a0004c0010 a0004c0025 a0006c0032 a0006c0062 a0010c0034 a0012c0021 a0016c0022 a0023c0033	a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 others(9): Show a0001c0004t0001 a0002c0003t0001 a0003c0001t0001 a0003c0031t0001 a0004c0010t0007 a0004c0025t0002 a0006c0032t0004 a0006c0062t0004 a0010c0034t0005 a0012c0021t0001 a0016c0022t0001 a0023c0033t0001	a0001c0004t0001g0010 a0002c0003t0001g0067 a0003c0001t0001g0009 others(13): Show a0001c0004t0001g0010 a0002c0003t0001g0067 a0003c0001t0001g0009 a0003c0001t0001g0025 a0003c0001t0001g0113 a0003c0031t0001g0066 a0004c0010t0007g0011 a0004c0025t0002g0015 a0006c0032t0004g0065 a0006c0062t0004g0006 a0010c0034t0005g0182 a0012c0021t0001g0063 a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126 a0023c0033t0001g0064	16	230	0.0696	-270	c.246 others(17): Show c.246-9886_246-9617del		COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12						chr7	TogoVar
COL22A1_chr8_138583235_138919041	138595657	CCTGCATG others(263): Show CCTGCATGGAAATGGACTGTGTTCCCCTGGACACTCCAAGAGGACAGGAA GGAGGGCCGTCTTGTTTATAGCTGTGTCCTTGCTCCCAGCACAGACTCTC GCAATGGGAGGTGCAAGATAACTGAGACATGATCATGTGAATAAACGTGC CCTCCCCTTTTGTCCTTGTGCTCCTGGAAAGTAGTTATGGATTTCTCTTC TTTGCTGCAACAAGAACTTGTGTGACTTTCTTCTCCTCTAACTTCCTATT GCAGAGGGAATGGGAAAGGCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0089 a0002c0009t0002g0089	1	158	0.0063	-270	c.443 others(18): Show c.4432+977_4432+1246del		COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	62/64						chr8	TogoVar
COL4A3_chr2_227159624_227319792	227203060	TATACATA others(263): Show TATACATATATGTGTATATATGTGTATATATGTGTATATATACATATATG TGTATATATGTGTATATATACATATATGTGTATATATGTGTATATATACA TATATGTGTATATATGTGTATATGTGTGTATATATACATATATGTGTATA TACACACATATATGTGTATATATGTGTATATATACATATATGTATATATA CATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTGTA TATATACATATATGTGTATAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01496.hp1 HG02738.hp2 others(1): Show HG01106.hp1 HG01496.hp1 HG02738.hp2 HG03669.hp2	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0011 a0010c0018 a0001c0001 a0003c0011 a0010c0018	a0001c0001t0001 a0003c0011t0009 a0010c0018t0002 a0001c0001t0001 a0003c0011t0009 a0010c0018t0002	a0001c0001t0001g0101 a0001c0001t0001g0134 a0003c0011t0009g0102 others(1): Show a0001c0001t0001g0101 a0001c0001t0001g0134 a0003c0011t0009g0102 a0010c0018t0002g0108	4	344	0.0116	-270	c.88- others(17): Show c.88-34877_88-34608del		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240977485	GCTCATCC others(263): Show GCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCA TCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCT GCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCA AGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTC TGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGGG TAGGAGCCTCAGGAGCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00673.hp2 others(11): Show HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01192.hp2 HG01952.hp1 HG01981.hp1 HG02155.hp2 HG02735.hp2 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18953.hp2 NA18995.hp1 NA19082.hp1	a0001 a0005 a0011 others(3): Show a0001 a0005 a0011 a0034 a0060 a0061	a0001c0001 a0005c0005 a0011c0044 others(4): Show a0001c0001 a0005c0005 a0011c0044 a0011c0080 a0034c0083 a0060c0093 a0061c0094	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0005c0005t0002 a0011c0044t0002 a0011c0080t0001 a0034c0083t0001 a0060c0093t0001 a0061c0094t0001	a0001c0001t0001g0154 a0001c0001t0002g0274 a0001c0001t0002g0277 others(11): Show a0001c0001t0001g0154 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0327 a0005c0005t0001g0017 a0005c0005t0001g0138 a0005c0005t0002g0321 a0011c0044t0002g0317 a0011c0080t0001g0142 a0034c0083t0001g0136 a0060c0093t0001g0054 a0061c0094t0001g0053	14	350	0.0400	-270	c.440 others(19): Show c.4402-5380_4402-5111del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979031	TCTCTGGG others(263): Show TCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCT GGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	350	0.0029	-270	c.440 others(19): Show c.4402-3826_4402-3557del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979256	TCTCTGGG others(263): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0316 a0002c0002t0002g0316	1	350	0.0029	-270	c.440 others(19): Show c.4402-3601_4402-3332del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3795318	CAGATATA others(263): Show CAGATATAGATATCTATCATGTAGATATAGATATATATCTATCATGTATA TAGATATATATCATGTATAGATATAGATATCTATCATAGATATAGATATA TATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATC TATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATC ATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAG ATATAGATATATATCTATCAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0082 a0008c0008t0082	a0008c0008t0082g0126 a0008c0008t0082g0126	1	126	0.0079	-270	c.819 others(19): Show c.819-41546_819-41277del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(263): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCC GGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCGGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTG GGACTCTCATACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp1 HG02083.hp2 others(5): Show HG00621.hp1 HG02083.hp1 HG02083.hp2 HG03688.hp1 NA18940.hp1 NA18990.hp1 NA19064.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0004	a0001c0001t0002 a0001c0007t0003 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0007t0003 a0002c0002t0001 a0004c0004t0001 a0004c0004t0003	a0001c0001t0002g0149 a0001c0007t0003g0346 a0001c0007t0003g0348 others(5): Show a0001c0001t0002g0149 a0001c0007t0003g0346 a0001c0007t0003g0348 a0002c0002t0001g0274 a0002c0002t0001g0279 a0004c0004t0001g0309 a0004c0004t0001g0325 a0004c0004t0003g0313	8	378	0.0212	-270	c.274 others(19): Show c.2747+3421_2747+3690del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DHRSX_chrX_2214506_2505976	2281666	GAGAGAGA others(263): Show GAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAG AGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGA GAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	50	0.0200	-270	c.388 others(17): Show c.388+9566_388+9835del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DLGAP2_chr8_732628_1713476	993225	AGACCCCC others(263): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03492.hp1 HG01071.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0011 a0002c0001t0007 a0002c0001t0011	a0002c0001t0007g0038 a0002c0001t0011g0001 a0002c0001t0007g0038 a0002c0001t0011g0001	2	40	0.0500	-270	c.73+ others(17): Show c.73+85305_73+85574del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375508	CCTCTCCA others(263): Show CCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAAC GACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGT TAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTT GGGTTAACGACCCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTAC ATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTC CTACATTTGGGTTAACGACAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG03516.hp1 others(1): Show HG02976.hp2 HG03486.hp2 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0011 a0001c0002 a0001c0009 a0001c0011	a0001c0002t0001 a0001c0002t0022 a0001c0009t0012 others(1): Show a0001c0002t0001 a0001c0002t0022 a0001c0009t0012 a0001c0011t0015	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0009t0012g0006 others(1): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0009t0012g0006 a0001c0011t0015g0002	4	40	0.1000	-270	c.106 others(21): Show c.106+116733_106+117002del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF5_chr7_721699_791475	722263	AGCTAATT others(263): Show AGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAG GCTGGTTTCAAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCACA AAGTGCTGGGATGACAGGCGTAAGCCACTGCACCTGGCTAATTTTTCTAT TTTTAGTAGAGATGGGGTTTCACCATGTTATCCAGGCTGGTTTCAAACTC CTGACCACAGGTGATCTGCCTGCCTTGGCCTCACAAAGTGCTGGGATGAC AGGCGTGAGCCACCGCGCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	378	0.0027	-270	c.-44 others(11): Show c.-4457_-4188del		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding					4435		chr7	TogoVar
DNAH14_chr1_224924675_225404286	225068829	TAAGAAGC others(263): Show TAAGAAGCTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA AGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(182): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18955.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18991.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0003 others(86): Show a0000 a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0042 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0110 a0111	a0000c0102 a0001c0001 a0001c0008 others(96): Show a0000c0102 a0001c0001 a0001c0008 a0003c0002 a0005c0005 a0005c0031 a0005c0041 a0006c0006 a0007c0009 a0007c0048 a0008c0007 a0009c0035 a0009c0125 a0009c0126 a0010c0010 a0011c0011 a0014c0013 a0015c0012 a0016c0018 a0017c0015 a0018c0017 a0019c0016 a0020c0019 a0020c0037 a0021c0034 a0024c0054 a0024c0056 a0025c0021 a0026c0020 a0028c0032 a0029c0033 a0030c0028 a0031c0027 a0032c0029 a0033c0030 a0034c0100 a0034c0101 a0035c0036 a0035c0086 a0036c0120 a0037c0121 a0038c0124 a0039c0123 a0040c0122 a0042c0046 a0056c0059 a0057c0060 a0058c0058 a0059c0057 a0060c0055 a0061c0052 a0062c0050 a0063c0051 a0064c0049 a0065c0047 a0066c0053 a0067c0061 a0068c0062 a0069c0078 a0070c0080 a0071c0081 a0072c0079 a0073c0118 a0074c0117 a0075c0116 a0076c0113 a0077c0115 a0078c0089 a0079c0091 a0080c0090 a0081c0114 a0082c0093 a0083c0096 a0084c0095 a0085c0087 a0086c0112 a0087c0097 a0088c0111 a0089c0042 a0090c0108 a0091c0107 a0092c0106 a0093c0109 a0094c0110 a0095c0105 a0096c0099 a0097c0098 a0098c0104 a0099c0103 a0100c0088 a0101c0094 a0102c0092 a0103c0040 a0104c0039 a0105c0038 a0106c0085 a0107c0084 a0110c0043 a0111c0119	a0000c0102t0003 a0001c0001t0001 a0001c0001t0002 others(98): Show a0000c0102t0003 a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0008t0002 a0003c0002t0001 a0005c0005t0001 a0005c0031t0001 a0005c0041t0001 a0006c0006t0001 a0007c0009t0001 a0007c0048t0001 a0008c0007t0001 a0009c0035t0001 a0009c0125t0001 a0009c0126t0001 a0010c0010t0001 a0011c0011t0001 a0014c0013t0001 a0015c0012t0001 a0016c0018t0001 a0017c0015t0001 a0018c0017t0001 a0019c0016t0001 a0020c0019t0001 a0020c0037t0001 a0021c0034t0001 a0024c0054t0001 a0024c0056t0001 a0025c0021t0001 a0026c0020t0001 a0028c0032t0001 a0029c0033t0001 a0030c0028t0001 a0031c0027t0001 a0032c0029t0001 a0033c0030t0001 a0034c0100t0001 a0034c0101t0001 a0035c0036t0001 a0035c0086t0001 a0036c0120t0001 a0037c0121t0001 a0038c0124t0001 a0039c0123t0001 a0040c0122t0001 a0042c0046t0001 a0056c0059t0001 a0057c0060t0001 a0058c0058t0001 a0059c0057t0001 a0060c0055t0001 a0061c0052t0001 a0062c0050t0001 a0063c0051t0001 a0064c0049t0001 a0065c0047t0001 a0066c0053t0001 a0067c0061t0001 a0068c0062t0001 a0069c0078t0001 a0070c0080t0001 a0071c0081t0001 a0072c0079t0001 a0073c0118t0001 a0074c0117t0001 a0075c0116t0001 a0076c0113t0001 a0077c0115t0001 a0078c0089t0001 a0079c0091t0001 a0080c0090t0001 a0081c0114t0001 a0082c0093t0001 a0083c0096t0001 a0084c0095t0002 a0085c0087t0001 a0086c0112t0001 a0087c0097t0001 a0088c0111t0001 a0089c0042t0001 a0090c0108t0001 a0091c0107t0001 a0092c0106t0001 a0093c0109t0001 a0094c0110t0001 a0095c0105t0001 a0096c0099t0001 a0097c0098t0001 a0098c0104t0001 a0099c0103t0001 a0100c0088t0001 a0101c0094t0001 a0102c0092t0001 a0103c0040t0001 a0104c0039t0001 a0105c0038t0001 a0106c0085t0001 a0107c0084t0001 a0110c0043t0001 a0111c0119t0001	a0000c0102t0003g0177 a0001c0001t0001g0034 a0001c0001t0001g0105 others(182): Show a0000c0102t0003g0177 a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0002g0163 a0001c0008t0001g0151 a0001c0008t0001g0152 a0001c0008t0001g0155 a0001c0008t0001g0202 a0001c0008t0002g0154 a0003c0002t0001g0106 a0003c0002t0001g0110 a0003c0002t0001g0113 a0003c0002t0001g0114 a0003c0002t0001g0115 a0003c0002t0001g0117 a0003c0002t0001g0120 a0003c0002t0001g0121 a0003c0002t0001g0127 a0003c0002t0001g0148 a0003c0002t0001g0178 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0001g0212 a0003c0002t0001g0217 a0005c0005t0001g0116 a0005c0005t0001g0133 a0005c0005t0001g0134 a0005c0005t0001g0150 a0005c0005t0001g0204 a0005c0005t0001g0205 a0005c0005t0001g0238 a0005c0031t0001g0145 a0005c0031t0001g0146 a0005c0041t0001g0125 a0006c0006t0001g0109 a0006c0006t0001g0119 a0006c0006t0001g0136 a0006c0006t0001g0137 a0006c0006t0001g0138 a0006c0006t0001g0143 a0007c0009t0001g0004 a0007c0009t0001g0005 a0007c0009t0001g0006 a0007c0009t0001g0016 a0007c0048t0001g0008 a0008c0007t0001g0003 a0008c0007t0001g0010 a0008c0007t0001g0011 a0008c0007t0001g0014 a0008c0007t0001g0017 a0009c0035t0001g0214 a0009c0035t0001g0215 a0009c0125t0001g0213 a0009c0126t0001g0216 a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 a0010c0010t0001g0033 a0011c0011t0001g0179 a0011c0011t0001g0180 a0011c0011t0001g0181 a0011c0011t0001g0239 a0014c0013t0001g0226 a0014c0013t0001g0227 a0014c0013t0001g0228 a0015c0012t0001g0002 a0015c0012t0001g0013 a0015c0012t0001g0015 a0016c0018t0001g0173 a0016c0018t0001g0174 a0016c0018t0001g0183 a0017c0015t0001g0085 a0017c0015t0001g0086 a0017c0015t0001g0087 a0018c0017t0001g0111 a0018c0017t0001g0195 a0018c0017t0001g0208 a0019c0016t0001g0108 a0019c0016t0001g0129 a0019c0016t0001g0130 a0020c0019t0001g0101 a0020c0019t0001g0102 a0020c0037t0001g0104 a0021c0034t0001g0089 a0021c0034t0001g0090 a0024c0054t0001g0222 a0024c0056t0001g0224 a0025c0021t0001g0019 a0026c0020t0001g0009 a0026c0020t0001g0020 a0028c0032t0001g0126 a0028c0032t0001g0209 a0029c0033t0001g0161 a0029c0033t0001g0162 a0030c0028t0001g0193 a0030c0028t0001g0194 a0031c0027t0001g0139 a0031c0027t0001g0142 a0032c0029t0001g0123 a0032c0029t0001g0124 a0033c0030t0001g0236 a0033c0030t0001g0237 a0034c0100t0001g0185 a0034c0101t0001g0203 a0035c0036t0001g0100 a0035c0086t0001g0098 a0036c0120t0001g0088 a0037c0121t0001g0091 a0038c0124t0001g0094 a0039c0123t0001g0092 a0040c0122t0001g0093 a0042c0046t0001g0229 a0056c0059t0001g0223 a0057c0060t0001g0225 a0058c0058t0001g0021 a0059c0057t0001g0232 a0060c0055t0001g0095 a0061c0052t0001g0230 a0062c0050t0001g0012 a0063c0051t0001g0235 a0064c0049t0001g0096 a0065c0047t0001g0233 a0066c0053t0001g0007 a0067c0061t0001g0024 a0068c0062t0001g0231 a0069c0078t0001g0219 a0070c0080t0001g0218 a0071c0081t0001g0220 a0072c0079t0001g0221 a0073c0118t0001g0192 a0074c0117t0001g0191 a0075c0116t0001g0190 a0076c0113t0001g0176 a0077c0115t0001g0166 a0078c0089t0001g0027 a0079c0091t0001g0029 a0080c0090t0001g0026 a0081c0114t0001g0135 a0082c0093t0001g0188 a0083c0096t0001g0140 a0084c0095t0002g0141 a0085c0087t0001g0025 a0086c0112t0001g0153 a0087c0097t0001g0107 a0088c0111t0001g0184 a0089c0042t0001g0186 a0090c0108t0001g0112 a0091c0107t0001g0175 a0092c0106t0001g0201 a0093c0109t0001g0118 a0094c0110t0001g0200 a0095c0105t0001g0128 a0096c0099t0001g0196 a0097c0098t0001g0187 a0098c0104t0001g0131 a0099c0103t0001g0206 a0100c0088t0001g0028 a0101c0094t0001g0144 a0102c0092t0001g0165 a0103c0040t0001g0099 a0104c0039t0001g0103 a0105c0038t0001g0210 a0106c0085t0001g0211 a0107c0084t0001g0207 a0110c0043t0001g0097 a0111c0119t0001g0240	185	240	0.7708	-270	c.242 others(21): Show c.2425-10363_2425-10094del		DNAH14	ENSG00000185842.16	transcript	ENST00000682510.1	protein_coding	17/85					INFO_REALIGN_3_PRIME	chr1	TogoVar
DPH7_chr9_137549444_137583925	137565534	TGGGTGAC others(263): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	340	0.0029	-270	c.641 others(15): Show c.641-650_641-381del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566693	CTCTGTCT others(263): Show CTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGA CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGG AAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp1 HG01891.hp2 HG02818.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0160 a0007c0010t0001g0147 a0001c0001t0001g0160 a0007c0010t0001g0147	2	340	0.0059	-270	c.641 others(17): Show c.641-1809_641-1540del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567874	ACTCTGTC others(263): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	340	0.0029	-270	c.641 others(17): Show c.641-2990_641-2721del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DSPP_chr4_87603529_87621873	87615920	TAGCAGTG others(263): Show TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCA GCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGAC AGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAG TGACAGCAGCAACAGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACA GCAGTGACAGCAGCGACAGCAGTGACAGCAGCGATAGCAGCGACAGCAGC GACAGCAGCGATAGCAGTGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03579.hp1 HG03579.hp1	a0043 a0043	a0043c0046 a0043c0046	a0043c0046t0001 a0043c0046t0001	a0043c0046t0001g0054 a0043c0046t0001g0054	1	450	0.0022	-270	c.326 others(9): Show c.3264_3533del	p.Asp others(15): Show p.Asp1089_Ser1178del	DSPP	ENSG00000152591.15	transcript	ENST00000651931.1	protein_coding	5/5	3384/4331	3264/3906	1088/1301		INFO_REALIGN_3_PRIME	chr4	TogoVar
EFNA5_chr5_107371894_107675937	107405820	AATATTTG others(263): Show AATATTTGTATACATATTCTATGTATTTATATACATAGAATGTATACAAA TACATATATTTGTATACATATTCTATGTATTTATATACATAGAATGTATA CAAATACATATATTTGTATACATATTCTATGTATTTATATACATAGAATG TATAAAAATACCTATATTTGTATACATATTCTATGTATTTATATACATAG AATGTATAAAAATACCTATATTTGTATACATATTCTATGTATTTATATAC ATAGAATGTATACAAATACCT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0173 a0001c0001t0011g0173	1	190	0.0053	-270	c.419 others(19): Show c.419-18319_419-18050del		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
FBLN7_chr2_112133385_112193218	112139319	CGTCCCTC others(263): Show CGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGG TCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTC CAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTC TCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCG CCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCT CCCGCCTCTCTCCACGCCAGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0056 a0002c0002t0002g0056	1	346	0.0029	-270	c.75+ others(13): Show c.75+610_75+879del		FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
FOXQ1_chr6_1307098_1319758	1319354	TCCCAGCA others(263): Show TCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGT TCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATAC AAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGG AGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGA CCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCG CGGTGGCGCACGCCTGTAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0000 a0003c0002t0004g0000	1	406	0.0025	-270	c.54 others(11): Show c.5439_*5708del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4597		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1319467	CAGCGGTG others(263): Show CAGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGG TGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAA ACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTA GGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAA AAATACAAAATTAGCCGGGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG02004.hp1 others(2): Show HG00280.hp1 HG00738.hp1 HG02004.hp1 HG03239.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	5	406	0.0123	-270	c.55 others(11): Show c.5552_*5821del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4710		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1319468	AGCGGTGG others(263): Show AGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAA CCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTGGCGCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAG GAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAA AATACAAAATTAGCCGGGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02280.hp1 HG02615.hp1 others(5): Show HG00639.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02965.hp2 HG03098.hp2 HG03195.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0003c0002t0003 a0001c0001t0002 a0003c0002t0003	a0001c0001t0002g0000 a0003c0002t0003g0000 a0001c0001t0002g0000 a0003c0002t0003g0000	8	406	0.0197	-270	c.55 others(11): Show c.5553_*5822del		FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding					4711		chr6	TogoVar
GOLGA3_chr12_132763914_132833869	132779720	CCACAGCC others(263): Show CCACAGCCCAGGCACACACGTGCGCACACACACCACAGCCCTTGCATGGA CACCCCCCCCGTGCACATACACACACCCCAGGCACACACGTGTGTGCACA CACACCACAGCCCTTGCACGGACACCCCCCCGCGCACATACACACACCTC AGGCACACACGTGTGTACAGACATCACAACTCTTGCACGCACAGCCCCCC GCATGCACACAACCCAGGCACACACGCGTATACAGACATCACAACCCTTC CACGCACAGCCCGCGTGCACA	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0275 a0003c0008t0007g0275	1	308	0.0033	-270	c.358 others(18): Show c.3582+808_3582+1077del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	18/23						chr12	TogoVar
GPC3_chrX_133530745_133990594	133635182	GTAAACTC others(263): Show GTAAACTCCTTGCTCTGTAGAAATTAGTCATTTCTAAGGTATACTAACTC TTTTACCTATGCAAAATACTTTTATCCAACAACACGAAAATGACAAGAAA GTGAAAATGGACCAGAAGGAGAGCACTTATTTGAGTTATGCTGTGAGGCC TGGAGGTCTCTGGGACACAGCCAAGGCCAGTAGCAGTTTAAAAGAGTGAC AACTTAAAGCACCTCCATCTACAGTAGAAAGCAATCATGTGACAAAGTAG GGAAGTCTATTTTAGAAATGT	G G	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	152	0.0066	-270	c.141 others(21): Show c.1413+26278_1413+26547del		GPC3	ENSG00000147257.16	transcript	ENST00000370818.8	protein_coding	6/7						chrX	TogoVar
GRIK3_chr1_36790527_37039515	36958125	ATGAGTCT others(263): Show ATGAGTCTGTGTGCCCCGTGACTCTGTGCCCTGAGTCTGTGTGCCCTGTG AGTCTGTGCCCCTGAGTCTGTGTGCCCTGTGAGTCTGTGCCCCGTGAGCC TGTGTGCCCCGTGAGCCTGTGTGTCCCATGACTCTGTGCCCCGTGAGTCT GTGTGCCCCATGACTCTGTGCCCCCTGAGTCTGTGTGCCCGGTGAGTCTG TGCCCCATGAGCCTGTGTGCTCTTTGAATCTTTGCTCCATGAGCCTGTGT GCTCTTTGAATCTGCGCCCTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02486.hp2 others(1): Show HG02145.hp1 HG02280.hp1 HG02486.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0002c0001t0006	a0001c0002t0002g0071 a0001c0003t0001g0015 a0002c0001t0001g0094 others(1): Show a0001c0002t0002g0071 a0001c0003t0001g0015 a0002c0001t0001g0094 a0002c0001t0006g0043	4	114	0.0351	-270	c.116 others(19): Show c.116-67299_116-67030del		GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15						chr1	TogoVar
INPP5A_chr10_132532787_132788480	132771849	GGAGGCCA others(263): Show GGAGGCCACAGCAGCCACCCCGCGAAGAGTGGGACAGACACTCAGCACTG ACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGC ACTGACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACT CAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGA CACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGA CGGACACTCAGCACTGACACA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02486.hp2 HG02809.hp1 others(2): Show HG02015.hp1 HG02486.hp2 HG02809.hp1 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0006t0001 a0001c0006t0008 others(2): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0008 a0001c0007t0008 a0001c0009t0008	a0001c0001t0001g0117 a0001c0006t0001g0188 a0001c0006t0008g0187 others(2): Show a0001c0001t0001g0117 a0001c0006t0001g0188 a0001c0006t0008g0187 a0001c0007t0008g0144 a0001c0009t0008g0087	5	204	0.0245	-270	c.978 others(17): Show c.978-5813_978-5544del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771874	AGAGTGGG others(263): Show AGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCG ATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCA CCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCA GCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCAC AGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGG CCACGGCAGCCACCCCACGAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(37): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01361.hp2 HG01928.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02135.hp2 HG02257.hp1 HG02486.hp1 HG02630.hp1 HG02698.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 HG03471.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18945.hp1 NA18952.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA19000.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0004t0002 a0001c0004t0012 a0001c0004t0021 a0001c0005t0002 a0001c0008t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0097 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0025 a0001c0001t0002g0079 a0001c0001t0002g0096 a0001c0001t0003g0197 a0001c0001t0004g0201 a0001c0001t0009g0196 a0001c0001t0009g0198 a0001c0001t0015g0140 a0001c0004t0002g0032 a0001c0004t0012g0166 a0001c0004t0021g0146 a0001c0005t0002g0039 a0001c0008t0001g0085 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0119 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0067 a0002c0002t0005g0068	40	204	0.1961	-270	c.978 others(17): Show c.978-5705_978-5436del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771966	GGCAGCCA others(263): Show GGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGG CCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACA GAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGA CACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCA CTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTC AGCACTGACACAGAGGCCACA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG00544.hp1 HG00621.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0002c0002t0001g0053 a0001c0001t0001g0113 a0002c0002t0001g0053	2	204	0.0098	-270	c.978 others(17): Show c.978-5694_978-5425del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132771977	CACGAGGA others(263): Show CACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCC ACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACAGC AGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCA CGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAG GCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACAC AGAGGCCACAGCAGCCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	204	0.0049	-270	c.978 others(17): Show c.978-5692_978-5423del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772513	ACCCGATG others(263): Show ACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCA CGGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAG GCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCACGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	204	0.0049	-270	c.978 others(17): Show c.978-5154_978-4885del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133222620	CGTGTGTC others(263): Show CGTGTGTCTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCG TGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCGTGTG CGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAG CCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAGCCCA TCCAGCCATGCTCTTCCCAGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0302 a0001c0003t0003g0302	1	332	0.0030	-270	c.501 others(19): Show c.5019-2032_5019-1763del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LEPR_chr1_65415668_65646559	65443939	AAAGACCT others(263): Show AAAGACCTGATACTTTTTTTTTTTTTTTTTTTTTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18965.hp1 NA18979.hp1 NA18984.hp1 NA18999.hp2 NA19043.hp1 NA19068.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0001c0001 a0001c0008 a0001c0009 others(15): Show a0001c0001 a0001c0008 a0001c0009 a0002c0002 a0002c0025 a0003c0004 a0003c0005 a0003c0006 a0003c0011 a0003c0014 a0004c0003 a0005c0007 a0005c0017 a0005c0020 a0006c0013 a0008c0019 a0009c0018 a0010c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0031 a0001c0001t0033 a0001c0001t0042 a0001c0001t0043 a0001c0008t0008 a0001c0009t0002 a0001c0009t0010 a0001c0009t0012 a0002c0002t0001 a0002c0002t0005 a0002c0002t0020 a0002c0025t0025 a0003c0004t0006 a0003c0004t0008 a0003c0004t0023 a0003c0005t0007 a0003c0005t0028 a0003c0006t0001 a0003c0006t0005 a0003c0006t0048 a0003c0011t0015 a0003c0011t0019 a0003c0011t0026 a0003c0014t0047 a0004c0003t0004 a0004c0003t0014 a0004c0003t0039 a0004c0003t0040 a0005c0007t0002 a0005c0017t0038 a0005c0020t0024 a0006c0013t0017 a0008c0019t0017 a0009c0018t0004 a0010c0021t0010	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0139 others(103): Show a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0184 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0213 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0007g0178 a0001c0001t0009g0072 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0011g0214 a0001c0001t0011g0216 a0001c0001t0031g0018 a0001c0001t0033g0069 a0001c0001t0042g0160 a0001c0001t0043g0174 a0001c0008t0008g0189 a0001c0009t0002g0165 a0001c0009t0010g0076 a0001c0009t0012g0112 a0001c0009t0012g0114 a0001c0009t0012g0187 a0002c0002t0001g0070 a0002c0002t0001g0104 a0002c0002t0005g0124 a0002c0002t0005g0188 a0002c0002t0005g0207 a0002c0002t0020g0175 a0002c0025t0025g0015 a0003c0004t0006g0025 a0003c0004t0006g0077 a0003c0004t0008g0125 a0003c0004t0008g0183 a0003c0004t0023g0212 a0003c0005t0007g0138 a0003c0005t0007g0166 a0003c0005t0007g0167 a0003c0005t0007g0193 a0003c0005t0007g0194 a0003c0005t0007g0195 a0003c0005t0007g0197 a0003c0005t0007g0198 a0003c0005t0028g0075 a0003c0006t0001g0022 a0003c0006t0001g0023 a0003c0006t0001g0024 a0003c0006t0001g0084 a0003c0006t0001g0095 a0003c0006t0005g0109 a0003c0006t0005g0130 a0003c0006t0005g0131 a0003c0006t0005g0132 a0003c0006t0005g0135 a0003c0006t0005g0162 a0003c0006t0005g0173 a0003c0006t0048g0134 a0003c0011t0015g0093 a0003c0011t0015g0103 a0003c0011t0019g0180 a0003c0011t0019g0192 a0003c0011t0026g0105 a0003c0014t0047g0190 a0004c0003t0004g0110 a0004c0003t0004g0111 a0004c0003t0004g0113 a0004c0003t0004g0133 a0004c0003t0004g0137 a0004c0003t0004g0141 a0004c0003t0004g0142 a0004c0003t0004g0143 a0004c0003t0004g0144 a0004c0003t0004g0164 a0004c0003t0004g0168 a0004c0003t0004g0169 a0004c0003t0004g0179 a0004c0003t0014g0086 a0004c0003t0039g0147 a0004c0003t0040g0146 a0005c0007t0002g0127 a0005c0007t0002g0182 a0005c0007t0002g0186 a0005c0017t0038g0170 a0005c0020t0024g0068 a0006c0013t0017g0208 a0008c0019t0017g0126 a0009c0018t0004g0107 a0010c0021t0010g0215	106	216	0.4907	-270	c.-21 others(19): Show c.-21+18578_-21+18847del		LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)