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
SHC2_chr19_411589_466033	426363	AGGCAGAG others(378): Show AGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGG AGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACC GAGAGAGGCAGAGTCCGGGGAGGGAGGACGACAGCACGAGAGGCAGAGTC CGGGGAGGGAGGACGACACCGAGAGAGGCAGAGTCCGGGGAGGGAGGACG ACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCA GAGTCCGGGGAGGGAGGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGA GGACGACACCGAGAGGGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAG GGGCAGAGTCCGGGGAGGGAGGACGACACCGAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	212	0.0094	-385	c.117 others(19): Show c.1175-1517_1175-1133del		SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	9/12						chr19	TogoVar
SLC9A3_chr5_465456_529449	495377	GCTCCCCG others(378): Show GCTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATC GCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCAC GCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCG CCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTC CCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCC CCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGA CCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCC ACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0211 a0002c0002t0003g0211	1	218	0.0046	-385	c.212 others(17): Show c.212-3691_212-3307del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
TMEM132D_chr12_129066726_129909025	129855443	ATAACAGA others(378): Show ATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGG GGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTG CCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGT CCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGAT GGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAAC AGAGTCCAGGGGAACGGGATGGGTGCCCTTGTTACGGAGTCCGGGGGAAC GGGATGGCTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTT GTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01074.hp1 HG02040.hp2 others(4): Show HG00408.hp2 HG01074.hp1 HG02040.hp2 HG03831.hp1 HG03834.hp2 NA19091.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0007 a0007c0012 a0001c0001 a0001c0007 a0007c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0007t0019 a0007c0012t0003	a0001c0001t0002g0039 a0001c0001t0003g0085 a0001c0001t0005g0037 others(4): Show a0001c0001t0002g0039 a0001c0001t0003g0085 a0001c0001t0005g0037 a0001c0001t0005g0042 a0001c0001t0015g0005 a0001c0007t0019g0043 a0007c0012t0003g0045	7	94	0.0745	-385	c.79+ others(17): Show c.79+47433_79+47817del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855770	GGGGGAAC others(378): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGT AACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGG AACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCC CTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCC GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	94	0.0106	-385	c.79+ others(17): Show c.79+47106_79+47490del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8						chr12	TogoVar
TPPP_chr5_654862_698352	667868	ACCGACAA others(378): Show ACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTAC CGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGG ACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGAC AAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAA GCACACTGGAGAGGGGTCCGCGTGGGCCCCATCAGGGAAGTACCGACAAG CACACGGAGAGGGGTCCGCGTGGGCCCCGTCAGGGAAGTACCGACAAGCA CACGGAGAGGGGTCCGCGTGGGCGCCGTCAGGGAAGTACCGACAAGCACA CAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19091.hp2 HG01192.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0077 a0001c0001t0005 a0001c0001t0077	a0001c0001t0005g0139 a0001c0001t0077g0216 a0001c0001t0005g0139 a0001c0001t0077g0216	2	409	0.0049	-385	c.312 others(17): Show c.312-2130_312-1746del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar
TPPP_chr5_654862_698352	667895	TGTGGGCG others(378): Show TGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTG TGGGCGCCGTCAGGGAAGTGCGGACAAGCACACAGAGAGGGGGCCGTGTG GGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGG CGCCGTCAGGGAAGTACCGACAAGCACACTGGAGAGGGGTCCGCGTGGGC CCCATCAGGGAAGTACCGACAAGCACACGGAGAGGGGTCCGCGTGGGCCC CGTCAGGGAAGTACCGACAAGCACACGGAGAGGGGTCCGCGTGGGCGCCG TCAGGGAAGTACCGACAAGCACACAGAGAGGGGGCCGTGTGGGCGCCGTC AGGGAAGTGCGGACAAGCACACGGAGAGGGGTCCGC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0228 a0001c0001t0079g0228	1	409	0.0024	-385	c.312 others(17): Show c.312-2157_312-1773del		TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3						chr5	TogoVar
TUBGCP2_chr10_133273635_133313872	133291259	TCCGTGTC others(378): Show TCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGT GTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACG GGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCC GTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAG GGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCC CTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGC ATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	284	0.0035	-385	c.121 others(18): Show c.1214+855_1214+1239del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(378): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(49): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01256.hp2 HG01361.hp1 HG01515.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02602.hp2 HG02683.hp2 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp2 HG03688.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18962.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp2 NA18990.hp2 NA19000.hp2 NA19001.hp2 NA19011.hp2 NA19054.hp2 NA19058.hp2 NA19074.hp2 NA19088.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0046 a0002c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0079 a0001c0001t0080 a0001c0001t0084 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0106 a0001c0001t0116 a0001c0001t0121 a0001c0001t0139 a0001c0001t0149 a0001c0001t0166 a0001c0001t0173 a0001c0001t0181 a0001c0001t0187 a0001c0002t0001 a0001c0002t0025 a0001c0002t0033 a0001c0002t0037 a0001c0002t0150 a0001c0004t0049 a0001c0046t0208 a0002c0003t0060 a0002c0003t0194 a0005c0008t0007	a0001c0001t0001g0092 a0001c0001t0001g0237 a0001c0001t0001g0297 others(49): Show a0001c0001t0001g0092 a0001c0001t0001g0237 a0001c0001t0001g0297 a0001c0001t0002g0115 a0001c0001t0002g0218 a0001c0001t0002g0314 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0004g0008 a0001c0001t0005g0201 a0001c0001t0005g0318 a0001c0001t0006g0248 a0001c0001t0007g0250 a0001c0001t0010g0313 a0001c0001t0012g0206 a0001c0001t0012g0213 a0001c0001t0013g0244 a0001c0001t0013g0321 a0001c0001t0014g0095 a0001c0001t0014g0235 a0001c0001t0017g0227 a0001c0001t0019g0316 a0001c0001t0030g0310 a0001c0001t0031g0242 a0001c0001t0032g0224 a0001c0001t0033g0219 a0001c0001t0036g0287 a0001c0001t0079g0202 a0001c0001t0080g0174 a0001c0001t0084g0226 a0001c0001t0095g0232 a0001c0001t0097g0264 a0001c0001t0099g0223 a0001c0001t0106g0233 a0001c0001t0116g0116 a0001c0001t0121g0320 a0001c0001t0139g0063 a0001c0001t0149g0197 a0001c0001t0166g0251 a0001c0001t0173g0236 a0001c0001t0181g0305 a0001c0001t0187g0089 a0001c0002t0001g0319 a0001c0002t0025g0228 a0001c0002t0033g0252 a0001c0002t0037g0326 a0001c0002t0150g0317 a0001c0004t0049g0215 a0001c0046t0208g0001 a0002c0003t0060g0220 a0002c0003t0194g0009 a0005c0008t0007g0185	52	346	0.1503	-385	c.181 others(21): Show c.1811-12894_1811-12510del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
ZSCAN5A_chr19_56216303_56319839	56235565	TCTCCACT others(378): Show TCTCCACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCT CTGATTGACCGTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACGGTGGG CCAAGTCTCCACTCCAGCCTCTGATGGACCGTGGGCCAAGTCTCCACTCC AGCCTCTGATGGATGGTGGGCCAAGCCTCCACTCCAGTCTCTGATGGACG GTGGGCCAAGTCTCCACTCCAGCCTCTGATGGACAGTGGGCCAAGTCTCC ACTCCAGCCTCTGATGGACGGTGGGCCAAGCCTCCACTCCAGCCTCTGAT GGACGGTGGGCCAAGCCTCCATTCCAGCCTCTGATGGACGGTGGGCCAAG TCTCCACTCCAGCCTCTGATGGATGGTGGGCCAAGC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02486.hp2 HG02735.hp1 HG01952.hp2 HG02486.hp2 HG02735.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0005 a0001c0006 a0004c0005	a0001c0006t0002 a0004c0005t0001 a0001c0006t0002 a0004c0005t0001	a0001c0006t0002g0007 a0001c0006t0002g0010 a0004c0005t0001g0241 a0001c0006t0002g0007 a0001c0006t0002g0010 a0004c0005t0001g0241	3	362	0.0083	-385	c.-12 others(21): Show c.-127-10777_-127-10393del		ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5						chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111307311	GTTGTGAT others(377): Show GTTGTGATGCTTTCCCATGGAAGCCATTGATTCCAAAACATGCTCTTCAT TGTGATGCTTTCCCACGGAAGCCATTGATTCCAAAACATGCTCTTCATTG TGATGCTTTCCCATGGAAGCTGTTGACTCTGAAACATGCTCTTCATTGTG ATGCTTTCCCATGGAAGCAGTGGACTCTGAAACATGCTCTTCATTGTGAT GCTTTCCCATGGAAGCCATTGATTCCAAAACATGGTCTTCATTGTGATGC TTTCCCATGGAAGCCATTGATTCCAAAACATGCTCTTCATTGTGATGCTT TCCCATGGAAGCCATTGATTCCAAAACATGCTCTTCATTGTGATGCTTTC CCATGGAAGCCGTTGACTCTGAAACATGCTCTTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	274	0.0037	-384	c.41 others(11): Show c.4199_*4582del		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding					1580		chr13	TogoVar
C2CD4C_chr19_400445_414147	404416	GGGGACGG others(377): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGGCACGGGGTCCTGCCCTGAGGGGTGTGGGGGG GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGAGACGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCTGAGGGGT CTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGAACGGGG TCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTG GAGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0066 a0009c0019t0066	a0009c0019t0066g0176 a0009c0019t0066g0176	1	322	0.0031	-384	c.22 others(11): Show c.2296_*2679del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1028		chr19	TogoVar
CNN2_chr19_1021608_1044065	1033743	GGGGAGCG others(377): Show GGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG ACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGT AGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTG GGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTC TGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAG CGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGG TGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGAC CGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG01934.hp2 others(10): Show HG00438.hp2 HG00609.hp1 HG01934.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG03927.hp1 NA18944.hp2 NA18951.hp1 NA18966.hp2 NA18969.hp2 NA19085.hp1	a0001 a0001	a0001c0005 a0001c0018 a0001c0005 a0001c0018	a0001c0005t0008 a0001c0018t0008 a0001c0005t0008 a0001c0018t0008	a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0005t0008g0021 others(5): Show a0001c0005t0008g0011 a0001c0005t0008g0012 a0001c0005t0008g0021 a0001c0005t0008g0044 a0001c0005t0008g0143 a0001c0005t0008g0162 a0001c0005t0008g0249 a0001c0018t0008g0193	13	390	0.0333	-384	c.390 others(17): Show c.390+1065_390+1448del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034452	GTGGGTGG others(377): Show GTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGT GTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGG CAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGA CGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02622.hp2 others(4): Show HG01884.hp2 HG02109.hp1 HG02622.hp2 HG02630.hp1 HG02976.hp2 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0009 a0001c0001t0006g0084 a0001c0001t0006g0087 others(2): Show a0001c0001t0006g0009 a0001c0001t0006g0084 a0001c0001t0006g0087 a0001c0001t0006g0258 a0001c0001t0010g0085	7	390	0.0180	-384	c.391 others(17): Show c.391-1667_391-1284del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
COL4A2_chr13_110302284_110518209	110385528	TGCGTGGA others(377): Show TGCGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGACCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTACAGTGTG TGGATAGGCCGTGGCTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTGCAGTGCGTGGATAGGCCGTGGTTGCAGTGCGTGGATA GGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGCGTGTGGATGGGCC GTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0069 a0003c0069	a0003c0069t0009 a0003c0069t0009	a0003c0069t0009g0008 a0003c0069t0009g0008	1	372	0.0027	-384	c.180 others(19): Show c.180+27978_180+28361del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134849309	TATCACAC others(377): Show TATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGATA TCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACGGGATC AGACCTCCTGGGGAGCACGGGATCACACCTCCCAGGAAGCACAGTATCAC ACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACGATATCACAC CTCCCAGGAAGCACAGGATCACACCTCCCAGGAACCATGATATCACACCT CCCAGGGAGCACAGGATCAGACCCCCCAGGGAGCACAGGATCACACCTCT CAGGAAGAACAGGATCACACCTCCCGGGGAAGACGATAGCACACCTCCCA GCGAGTGTGAGATCACACCTCCCAGTGAGCGTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03486.hp2 HG03669.hp1 HG03453.hp1 HG03486.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0023 a0001c0001 a0001c0005 a0001c0023	a0001c0001t0010 a0001c0005t0053 a0001c0023t0001 a0001c0001t0010 a0001c0005t0053 a0001c0023t0001	a0001c0001t0010g0098 a0001c0005t0053g0105 a0001c0023t0001g0014 a0001c0001t0010g0098 a0001c0005t0053g0105 a0001c0023t0001g0014	3	272	0.0110	-384	c.70 others(11): Show c.7007_*7390del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4467		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849332	ATATCACA others(377): Show ATATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAACCACGAT ATCACACCTCCCAGGAAGCACGGGATCAGACCTCCTGGGGAGCACGGGAT CACACCTCCCAGGAAGCACAGTATCACACCTCCCAGGAAGCACGGGATCA CACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACAGGATCACA CCTCCCAGGAACCATGATATCACACCTCCCAGGGAGCACAGGATCAGACC CCCCAGGGAGCACAGGATCACACCTCTCAGGAAGAACAGGATCACACCTC CCGGGGAAGACGATAGCACACCTCCCAGCGAGTGTGAGATCACACCTCCC AGTGAGCGTGGGATCACACCTCCCAGGAAGCATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00673.hp2 others(33): Show HG00423.hp2 HG00609.hp2 HG00673.hp2 HG01884.hp1 HG01891.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp1 HG03516.hp1 HG03710.hp1 HG03927.hp2 NA18747.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18967.hp1 NA18983.hp1 NA19005.hp2 NA19007.hp1 NA19043.hp1 NA19057.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp1 NA19087.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0016 a0001c0024 a0001c0048 a0002c0013 a0002c0017 a0005c0063 a0011c0035 a0012c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0008 a0001c0003t0014 a0001c0004t0002 a0001c0004t0003 a0001c0004t0033 a0001c0005t0014 a0001c0006t0019 a0001c0007t0014 a0001c0008t0003 a0001c0008t0034 a0001c0010t0003 a0001c0011t0007 a0001c0016t0012 a0001c0016t0046 a0001c0024t0017 a0001c0048t0012 a0002c0013t0003 a0002c0017t0003 a0005c0063t0002 a0011c0035t0012 a0012c0043t0043	a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0111 others(33): Show a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0111 a0001c0001t0003g0146 a0001c0001t0004g0102 a0001c0001t0009g0109 a0001c0001t0012g0242 a0001c0002t0001g0144 a0001c0002t0002g0074 a0001c0002t0002g0160 a0001c0002t0004g0015 a0001c0003t0001g0222 a0001c0003t0008g0078 a0001c0003t0014g0247 a0001c0004t0002g0132 a0001c0004t0003g0064 a0001c0004t0033g0131 a0001c0005t0014g0258 a0001c0006t0019g0264 a0001c0007t0014g0044 a0001c0008t0003g0017 a0001c0008t0034g0151 a0001c0010t0003g0068 a0001c0011t0007g0027 a0001c0016t0012g0021 a0001c0016t0046g0020 a0001c0024t0017g0180 a0001c0048t0012g0226 a0002c0013t0003g0061 a0002c0013t0003g0076 a0002c0017t0003g0118 a0002c0017t0003g0163 a0002c0017t0003g0223 a0005c0063t0002g0072 a0011c0035t0012g0008 a0012c0043t0043g0037	36	272	0.1324	-384	c.70 others(11): Show c.7030_*7413del		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding					4490		chr9	TogoVar
CPN2_chr3_194334768_194356328	194347827	GCCCAGTT others(377): Show GCCCAGTTCAGCCCACACCACCCACTGCCCAGTTCATCCCACCCCATCCG CTGCCCAGTTCAGCCCACCCCATCCTCTGCCCAGTTCAGCCCACACCACC CGCTGCCCAGTTCAGCCCACCACCCCCGCCCAGTTCAGCCCACCCCATCC TCTGCCTAGTTCAGCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCCAC CCTCTGCCCAGTTCAGCCCACCCCATCCGCTGCCCAGTTCAGCCCACCCC ATCCTCTGCCCAGTTCAGCCCACACCACCCACTGCCCAGTTCATCCCACC CCATCCGCTGCCCAGTTCAGCCCACCCCATCCTCTGCCCAGTTCAGCCCA CACCACCCGCTGCCCAGTTCAGCCCACCACCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0012 a0004c0012t0012	a0004c0012t0012g0100 a0004c0012t0012g0101 a0004c0012t0012g0100 a0004c0012t0012g0101	2	440	0.0046	-384	c.-4+ others(15): Show c.-4+3031_-4+3414del		CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1						chr3	TogoVar
CTNNA3_chr10_65907523_67701195	66572218	ACTAAAAA others(377): Show ACTAAAAATACAAAAAATAGCTGGGTGTGGGGGCACGTGCCTGTAATCCC ATCTACTAGGGAGGCTGAAGCAGGAGAATCGCTTAAACCCGGGAGGCGGA GGTTACAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGTTGACAGA GGAGACTCTGTCTTAAAAAAAAAAAAAAATCTGAATATGAATCTAAGCAA ACATATACACACAAACAGGCATACATACCTAGACAAACTATATGTCTATC TCTACATCTACCTATCTATACATACACCTTATGCTGAGGGTCTTGAATAT GATTGATAATCACATTCTGTGTGGCTAATTGCATTTAGGCCAGGACTCAA AAAAAAAAACAAAACATGAAATAAACCAAAATAAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	-384	c.137 others(21): Show c.1374+49090_1374+49473del		CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17						chr10	TogoVar
DBNDD1_chr16_89999871_90024456	90003576	GGGCTACC others(377): Show GGGCTACCTTTATATGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTATGACTCCCT CCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0293 a0001c0001t0009g0293	1	412	0.0024	-384	c.23 others(11): Show c.2375_*2758del		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding					1294		chr16	TogoVar
DCC_chr18_52335197_53540899	53086172	TCTCTTCT others(377): Show TCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCTTCTTTCCTTCCCTTCTT CTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTC TTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCT TCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTTC TTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0090 a0002c0011t0003g0090	1	114	0.0088	-384	c.126 others(21): Show c.1261+20009_1261+20392del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
DIP2C_chr10_269201_694668	322951	GCGGGGCT others(377): Show GCGGGGCTCCAGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0043	1	88	0.0114	-384	c.392 others(19): Show c.3924+3671_3924+4054del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DIP2C_chr10_269201_694668	323000	GCGGGGCT others(377): Show GCGGGGCTCCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGTGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGGTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGC TCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0018	1	88	0.0114	-384	c.392 others(19): Show c.3924+3622_3924+4005del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
DOC2B_chr17_137789_186650	166781	CATGGTCT others(377): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	339	0.0030	-384	c.454 others(17): Show c.454-2961_454-2578del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167261	CATGGTCT others(377): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0203 a0001c0002t0031g0203	1	339	0.0030	-384	c.454 others(17): Show c.454-3441_454-3058del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DOC2B_chr17_137789_186650	167837	CATGGTCT others(377): Show CATGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCA TGGTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATG GTCTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGT CTGACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCT GACACTGTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGA CACTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACA CTCTTCTTGAGGTAGTGAATACGTCTCACGAGATCTCATGGTCTGACACT GTTCTTGAGGTAGTGAATACGTCTCACGAGATCTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0273 a0001c0002t0024g0273	1	339	0.0030	-384	c.454 others(17): Show c.454-4017_454-3634del		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding	2/8						chr17	TogoVar
DPH7_chr9_137549444_137583925	137566160	ACTGTCTG others(377): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	340	0.0029	-384	c.641 others(17): Show c.641-1390_641-1007del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566900	ACTGTCTG others(377): Show ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	340	0.0029	-384	c.641 others(17): Show c.641-2130_641-1747del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
EGFR_chr7_55014017_55216628	55166832	GCAGTGTT others(377): Show GCAGTGTTGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTAGTGATGATG GTGTTGATGGTGGTGAGGAGGTGAGAGTCACAATGTTGGTGGTGTTGATG GTGGTGATGGTGATGAGGAGGTGGGAGTCACAATGGTGGTGATGAGGGTG GTGATGATGATGAGGAGGTGGGAGTCACAATGGTGTCAGTGTTGATGGTC CGATGGTGATGAGGAGGTGGGAGTCACAATGTTGGTGGTGTTGATGGTGG TGATGATGATGAGGAGGTGGGAGTCACAATGGTGTCAGTGTTGATGGTGG CGATGGTGATGAGGAGGTGGGAGTCACAATGGTGGTGGTGATGACGGTGT TGACAGTGGTGACGAGGCGGGAGTCACAATGGTGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0052 a0001c0001t0035g0052	1	250	0.0040	-384	c.188 others(19): Show c.1880+1397_1880+1780del		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
ERICH1_chr8_659200_736224	675786	CGGCGAGG others(377): Show CGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCG GCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGC GGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGA CAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGCGGCCCCTCGT GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19007.hp2 NA19012.hp1 others(2): Show NA18984.hp1 NA19007.hp2 NA19012.hp1 NA19056.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0090	5	378	0.0132	-384	c.305 others(17): Show c.305-2123_305-1740del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675926	TGAGGACA others(377): Show TGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCC CTCGTGAGGACAGAGACGCGGCGCCCCCCCGGCGAGGACAGAGACGCGGC GGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGA GACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGCCCCCTCGGCGAG GACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTC GGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGC CCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01175.hp2 others(4): Show HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01496.hp2 HG02451.hp2 HG02572.hp2 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0009c0012	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0009c0012t0001	a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0227 a0001c0002t0001g0102 a0001c0009t0001g0120 a0009c0012t0001g0119	7	378	0.0185	-384	c.305 others(17): Show c.305-2263_305-1880del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
FOCAD_chr9_20679259_21000950	20974274	GCCCTACT others(377): Show GCCCTACTTCCCCCTTCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCT TTGTCCTATGTTTGTCCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTG CTTCCCCATTTTAGCATCTGCTAATTTGGCCTCTGCTTCTCCTTTTCCCT GTGCTTCTCTTTTCTGCTGCTGTTTTCACTTTTGCTGTCTCTGCCCTACT TCCCCCTTCTTTCAGCATCTGTTCATGGCCTCTGCTTCTCCTTTTTCCTA TGTTTGTCCTTTCTGTAGCTGTTTTTTTCCTGCTGACTCTTGCTTCCCCA TTTTAGCATCTGCTAATTTGGCCTCTGCTTCTCCTTTTTCCTATGCTTCT CATTTCTGCTGCTGTTTTCACGTTTGCTGACTCTA	G G	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	-384	c.413 others(19): Show c.4133-2094_4133-1711del		FOCAD	ENSG00000188352.13	transcript	ENST00000338382.11	protein_coding	35/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
FRYL_chr4_48492357_48785279	48659510	AAGAGGGA others(377): Show AAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAA GGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGA AGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGG GAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0231 a0004c0007t0001g0231	1	282	0.0036	-384	c.-81 others(19): Show c.-81+24779_-80-25021del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
FRYL_chr4_48492357_48785279	48659523	GGGAGAAG others(377): Show GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAG AAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGA GAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGA GGGAGAAGGAGAAGAGGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	282	0.0036	-384	c.-81 others(19): Show c.-81+24766_-80-25034del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GALNT9_chr12_132191372_132334589	132232404	GTGCCACA others(377): Show GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACA CTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	183	0.0055	-384	c.107 others(21): Show c.1077+15122_1077+15505del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232487	CGTGGAGT others(377): Show CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGT CCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCT ACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	183	0.0055	-384	c.107 others(21): Show c.1077+15039_1077+15422del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234071	GTGGAGTC others(377): Show GTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGT GGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGG AGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAG TCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02723.hp2 others(2): Show HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0001 a0001c0006t0001 a0001c0019t0003 a0001c0001t0001 a0001c0006t0001 a0001c0019t0003	a0001c0001t0001g0143 a0001c0006t0001g0073 a0001c0006t0001g0078 others(2): Show a0001c0001t0001g0143 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0019t0003g0077	5	183	0.0273	-384	c.107 others(21): Show c.1077+13455_1077+13838del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234682	GAGAGGAG others(377): Show GAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGA GAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG TGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTGGTGCCACACACTCGATGGGGCGAC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01099.hp1 HG01192.hp2 others(19): Show HG01070.hp2 HG01099.hp1 HG01192.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp1 HG03834.hp1 HG06807.hp2 NA18950.hp2 NA18999.hp1 NA19091.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0016 a0001c0017 a0001c0019 a0001c0027	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003 a0001c0027t0001	a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0125 others(19): Show a0001c0001t0001g0019 a0001c0001t0001g0072 a0001c0001t0001g0125 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0002t0001g0004 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0013g0021 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0139 a0001c0005t0001g0031 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0027t0001g0082	22	183	0.1202	-384	c.107 others(21): Show c.1077+12844_1077+13227del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GJB3_chr1_34776214_34791364	34778028	CTTAACAC others(377): Show CTTAACACACAGCTCTCCAGGCTTACACACACAGAAACAGTTCTCGCACA TAACCTTATGTGCACCCAGTGTTTACAAATAGTGACTGAGAGTCTGTACA TTCCAGGCCCTGGTAATGTGGCAGGAACGTGACCAGGGAGCTCCCTGCTC TCCTGGAGATAATTTCAGAGACGGCTGTGAAGAGTGTCTGCTGAGGAAGT GGAGCAAGGAACATTTGGGGTGGGGGTGGGGGAACCAGGGAACACCTCTG TAAGAAGGTGAGACCTGAATAAGGAGGAGGAAGCTTCCAAGTAAAGAGTC AGGAGAAGGCAGTCCAGGCAGAGAGAACAGCAAAGGCAAAAACCAGAAGG CTGACCTGAATGTGGCTTGTTCAAGAACCAGAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18952.hp2 NA18944.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	444	0.0045	-384	c.-37 others(11): Show c.-3775_-3392del		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3185		chr1	TogoVar
GRTP1_chr13_113319163_113369130	113346013	CGGCTGAG others(377): Show CGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAGCAGACCCGGGAG GACCTCTGCGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGA CCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCC TGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCGGGAGGA CCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGA TCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAG AGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGGACC TCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01071.hp2 others(18): Show HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02257.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp2 NA18522.hp2 NA18946.hp2 NA18977.hp2 NA18995.hp1 NA19064.hp1 NA19070.hp2 NA19085.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0012	a0001c0001 a0006c0006 a0008c0012 others(1): Show a0001c0001 a0006c0006 a0008c0012 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0006c0006t0005 a0006c0006t0007 a0008c0012t0003 a0012c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0157 a0001c0001t0001g0192 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0261 a0001c0001t0002g0001 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0003g0033 a0001c0001t0003g0162 a0006c0006t0005g0253 a0006c0006t0007g0161 a0008c0012t0003g0268 a0012c0008t0001g0054	21	288	0.0729	-384	c.466 others(17): Show c.466-1438_466-1055del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
MUC4_chr3_195741771_195816929	195778999	GGAAGAGG others(377): Show GGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGG AAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAA GAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGG GGTGGCCTGACCTGTGGATGCAGAGGAAGTGTCGGTGACAGGAAGAGGCG TGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTG GCGTGACCGGTGGATGCTGAGGAAGCATCGGTGACAGGAAGAGTGCTGGT GTCACCTCTGGATGCTGAGGAAGGGCTGGTGACAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG01975.hp1 HG02015.hp1 others(15): Show HG00099.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp2 HG02145.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG03098.hp2 HG03579.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18948.hp1 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0024 a0025 others(11): Show a0011 a0024 a0025 a0066 a0068 a0069 a0071 a0074 a0076 a0110 a0119 a0148 a0156 a0170	a0011c0008 a0011c0028 a0024c0012 others(12): Show a0011c0008 a0011c0028 a0024c0012 a0025c0010 a0066c0177 a0068c0171 a0069c0172 a0071c0175 a0074c0167 a0076c0168 a0110c0044 a0119c0078 a0148c0073 a0156c0106 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 others(12): Show a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 a0025c0010t0001 a0066c0177t0004 a0068c0171t0005 a0069c0172t0005 a0071c0175t0005 a0074c0167t0001 a0076c0168t0001 a0110c0044t0001 a0119c0078t0001 a0148c0073t0001 a0156c0106t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(15): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0024c0012t0001g0114 a0024c0012t0001g0156 a0025c0010t0001g0078 a0025c0010t0001g0141 a0066c0177t0004g0226 a0068c0171t0005g0229 a0069c0172t0005g0230 a0071c0175t0005g0227 a0074c0167t0001g0067 a0076c0168t0001g0082 a0110c0044t0001g0083 a0119c0078t0001g0099 a0148c0073t0001g0150 a0156c0106t0001g0144 a0170c0110t0001g0103	18	249	0.0723	-384	c.121 others(11): Show c.12197_12580del	p.His others(15): Show p.His4066_Leu4193del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	12692/16756	12197/16239	4066/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780391	TGAAGAGG others(377): Show TGAAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGG AAGAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGATGGTGACAGGAA GAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGA CGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGGGG TGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTG GCCTGACCTGTGGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGT GTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0179 a0179	a0179c0032 a0179c0032	a0179c0032t0002 a0179c0032t0002	a0179c0032t0002g0193 a0179c0032t0002g0193	1	249	0.0040	-384	c.108 others(11): Show c.10805_11188del	p.Pro others(15): Show p.Pro3602_Leu3729del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11300/16756	10805/16239	3602/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782255	TAGTGACA others(377): Show TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACA GGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGACATG AAGAGGGGTGGCGTGACCTGTGGATATTGAGGAAGTGTCGGTGACAGGAA GAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGA AGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp2 NA19043.hp2 HG01361.hp2 NA19043.hp2	a0176 a0177 a0176 a0177	a0176c0037 a0177c0035 a0176c0037 a0177c0035	a0176c0037t0002 a0177c0035t0002 a0176c0037t0002 a0177c0035t0002	a0176c0037t0002g0197 a0177c0035t0002g0196 a0176c0037t0002g0197 a0177c0035t0002g0196	2	249	0.0080	-384	c.894 others(9): Show c.8941_9324del	p.Asp others(15): Show p.Asp2981_Thr3108del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9436/16756	8941/16239	2981/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782839	GGAAGAGG others(377): Show GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGG AAGAGGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAA GAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGA GAGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGG GGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGG TGGCATGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTG GCGTGACCTGTGGACACTGACGAAGCGTCGGTGACAGGAAGAGGGGTGGT GTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01884.hp1 HG02976.hp1 NA18906.hp2 HG01884.hp1 HG02976.hp1 NA18906.hp2	a0070 a0073 a0080 a0070 a0073 a0080	a0070c0174 a0073c0176 a0080c0170 a0070c0174 a0073c0176 a0080c0170	a0070c0174t0002 a0073c0176t0005 a0080c0170t0005 a0070c0174t0002 a0073c0176t0005 a0080c0170t0005	a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240 a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240	3	249	0.0121	-384	c.835 others(9): Show c.8357_8740del	p.His others(15): Show p.His2786_Leu2913del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8852/16756	8357/16239	2786/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782855	CACCTGTG others(377): Show CACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGA CCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCATGACC TGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTG TGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAG GATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGAA CACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACA CTGACGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCT GAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03225.hp2 HG03225.hp2	a0105 a0105	a0105c0124 a0105c0124	a0105c0124t0003 a0105c0124t0003	a0105c0124t0003g0116 a0105c0124t0003g0116	1	249	0.0040	-384	c.834 others(9): Show c.8341_8724del	p.His others(15): Show p.His2781_Gly2908del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8836/16756	8341/16239	2781/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783359	CGGTGACA others(377): Show CGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGT GACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGA CAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACA GGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAA GAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGA GGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01255.hp2 HG01361.hp2 HG04228.hp2 others(3): Show HG01255.hp2 HG01361.hp2 HG04228.hp2 NA18947.hp2 NA19043.hp2 NA20300.hp1	a0039 a0040 a0077 others(3): Show a0039 a0040 a0077 a0176 a0177 a0184	a0039c0162 a0040c0154 a0077c0169 others(3): Show a0039c0162 a0040c0154 a0077c0169 a0176c0037 a0177c0035 a0184c0126	a0039c0162t0002 a0040c0154t0006 a0077c0169t0013 others(3): Show a0039c0162t0002 a0040c0154t0006 a0077c0169t0013 a0176c0037t0002 a0177c0035t0002 a0184c0126t0001	a0039c0162t0002g0166 a0040c0154t0006g0030 a0077c0169t0013g0184 others(3): Show a0039c0162t0002g0166 a0040c0154t0006g0030 a0077c0169t0013g0184 a0176c0037t0002g0197 a0177c0035t0002g0196 a0184c0126t0001g0089	6	249	0.0241	-384	c.783 others(9): Show c.7837_8220del	p.Ser others(15): Show p.Ser2613_Thr2740del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8332/16756	7837/16239	2613/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783383	CACCTGTG others(377): Show CACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCA CCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACC TGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGG TGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTG GATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGA TGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATG CTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACT GAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0082 a0083 a0082 a0083	a0082c0191 a0083c0190 a0082c0191 a0083c0190	a0082c0191t0005 a0083c0190t0004 a0082c0191t0005 a0083c0190t0004	a0082c0191t0005g0244 a0083c0190t0004g0241 a0082c0191t0005g0244 a0083c0190t0004g0241	2	249	0.0080	-384	c.781 others(9): Show c.7813_8196del	p.Gln others(15): Show p.Gln2605_Gly2732del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8308/16756	7813/16239	2605/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783950	AGGTGGCG others(377): Show AGGTGGCGTGACGTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGGAGTGTCGGTGACAGGTAGAGGGGT GGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGACGGGTGG TGTCACCTGTGGATACTGACGAAGCGTCGGTGACAAGAAGAGGGGTGGTG TGACCTGTGGATACTGAGGAAGTGTCGGTGCCAGGAAGAGGGGTGGTGTC ACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGCATGAC CTGTGGATGCCGAGGAAACGTTGGTGACAGGAAGACGGGTGGTGTCACCT GTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGATG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0179 others(2): Show a0026 a0175 a0179 a0180 a0181	a0026c0009 a0175c0031 a0179c0032 others(2): Show a0026c0009 a0175c0031 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 others(2): Show a0026c0009t0002 a0175c0031t0001 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(3): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	6	249	0.0241	-384	c.724 others(9): Show c.7246_7629del	p.His others(15): Show p.His2416_Thr2543del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7741/16756	7246/16239	2416/5412			chr3	TogoVar
NFE2L3_chr7_26147198_26192137	26176788	GCGCTCCT others(377): Show GCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACTT CCCAGACGATGGGTGGCCGGGCAGAGGCACTCCTCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCGGCCAGGCAG AGATGCTCCTCACTTCCTAGACGGGGTGGCAGCCGGGCAGAGGCGCTCCT CACATCCCAGACGGGGTGGCCGGGCAGAGGCGCTCCTCACATCCCAGACG ATGGGCGGCCAGGCAGAGATGCTCCTCACTTCCTAGACGGGGTGGCAGCC GGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGCCGGGCAGAGGCGCT CCTTACATCCCAGACGATGGGTGGCCAGGCAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01256.hp1 others(27): Show HG00423.hp1 HG01081.hp1 HG01256.hp1 HG01515.hp1 HG01517.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18942.hp2 NA18954.hp1 NA18966.hp2 NA18970.hp1 NA18981.hp2 NA18991.hp2 NA19001.hp1 NA19087.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 others(14): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207	30	400	0.0750	-384	c.571 others(16): Show c.571-1140_571-757del		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	952186	GGTCAGAG others(377): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAC AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	242	0.0041	-384	c.360 others(19): Show c.360+26749_360+27132del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	952431	GGGGGGGC others(377): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGC TGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGT TGGAACCCGGCAGGTACCACGGACGGTCACACTGT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0013 a0001c0009t0013	a0001c0009t0013g0196 a0001c0009t0013g0196	1	242	0.0041	-384	c.360 others(19): Show c.360+26504_360+26887del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar

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