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
RPTOR_chr17_80539838_80971368	80876043	ACCTGCTG others(575): Show ACCTGCTGGGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCA CCTGCCGGGTCTTCCACCGAGCCCGTGCTGCCCAGGATGTGTGTGTCACC TGCCGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTG CCGTGTCTTCCCACCGAACCCGTGCCACGCAGGGTGTGTGTGTCGCCTGC CGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCG GGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGG GTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGT CTTCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTC TTCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCT TCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGTCTT CCCACCGAGCCTGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTC CACCAAGCCCCTCCGCCCAGGATGTGTGTGTCG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02809.hp1 others(4): Show HG01168.hp1 HG01169.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0012 a0001c0007 a0001c0011 a0001c0012	a0001c0007t0030 a0001c0011t0024 a0001c0011t0029 others(1): Show a0001c0007t0030 a0001c0011t0024 a0001c0011t0029 a0001c0012t0003	a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0011t0024g0147 others(4): Show a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0011t0024g0147 a0001c0011t0029g0196 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0003g0189	7	196	0.0357	-582	c.151 others(19): Show c.1510-4323_1510-3742del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTBDN_chr19_12820482_12839579	12822311	ACCCAGGC others(575): Show ACCCAGGCTGGAGTGTAATGGCGTGATCTCGGCTCACTGAAACCTCTGCT TCCTGGGTTCAAGCAATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGCATGCGCCACCACACCCGGCTAATTTTCTGTATTTTTAGTATAGA TGGAGTTTCACCATGTTGGTTAGGCTGGTCTCGAACTCCTGACCTCGTGA TCCACCTGCCTCGGCCTCCTAAAGTGCTGGTTGTTGTTTCTTTTTTTTTG TTTTGTTTTTTGAGACGGAGTCTGGCTCTGTTACCCAGGTTGGGGCGCAG TGGCATGATCTCGGCTCACTGCAACCTCTGCCTTATGGGTTCAAGTGATT CTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACCACCAT GCCCAGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGC CAGGCTGGTCTTGAACCCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTC CCAACGTGCTGGGCTTACAGGCATGAGCCACTGCACTCAGCCGATAATGA CTTTTTTTTCTGAGATGGAGTCTTGCTTTGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	430	0.0023	-582	c.28 others(11): Show c.2813_*3394del		RTBDN	ENSG00000132026.15	transcript	ENST00000674343.2	protein_coding					3170		chr19	TogoVar
TUBGCP2_chr10_133273635_133313872	133291765	CGGGGAGC others(575): Show CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCC CCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGG AGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATG TCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCGTGTCC CGGGGAGCCCTACCTGTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCC CCATGTCCCTCTGTGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTC CGTGTCCCCCGTGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGTCCCCCA TGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGG CAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCC CGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCC GTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGC CCTACCTGTACGGGAGAGGGCAGCATGCACACT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	284	0.0035	-582	c.121 others(17): Show c.1214+152_1214+733del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
ZNF516_chr18_76352682_76500242	76393651	GGGCAGGG others(575): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGT CAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAG GTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAG GTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0057 a0001c0006t0057	a0001c0006t0057g0165 a0001c0006t0057g0165	1	346	0.0029	-582	c.181 others(21): Show c.1811-13930_1811-13349del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
CSMD1_chr8_2930361_4999914	3795142	TCTATCAT others(574): Show TCTATCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTA TCATGTACAGATATAGATACCTATCATGTACAGATATAGATATATATCTA TCATGTACACATATAGATATATATCTATCATGTACAGATATATATATCAT GTACAGATATATATATCTATCATGTACAGATATAGATATCTATCATGTAG ATATAGATATATATCTATCATGTATATAGATATATATCATGTATAGATAT AGATATCTATCATAGATATAGATATATATCTATCATAGATATAGATATAT ATCTATCATAGATATAGATATATATCTATCATAGATATAGATATATATCT ATCATAGATATAGATATATATCTATCATAGATATAGATATATATCTATCA TAGATATAGATATATATCTATCATAGATATAGATATATATCTATCATAGA TATAGATATATATCTATCATAGATATAGATATATATCTATCATGTATAGA TATAGATATATATCTATCATAGATATAGATATATATCTATCATGTATAGA TATAGATATATATCTATCAAGTACAGCTATAG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG02280.hp2 others(9): Show HG00735.hp2 HG01081.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp1 HG02965.hp2 HG03540.hp1 NA18906.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0014 a0038	a0001c0004 a0001c0021 a0001c0073 others(9): Show a0001c0004 a0001c0021 a0001c0073 a0002c0015 a0002c0030 a0002c0051 a0002c0070 a0003c0034 a0005c0107 a0008c0067 a0014c0010 a0038c0066	a0001c0004t0020 a0001c0021t0005 a0001c0073t0007 others(9): Show a0001c0004t0020 a0001c0021t0005 a0001c0073t0007 a0002c0015t0021 a0002c0030t0016 a0002c0051t0006 a0002c0070t0046 a0003c0034t0030 a0005c0107t0068 a0008c0067t0059 a0014c0010t0070 a0038c0066t0010	a0001c0004t0020g0086 a0001c0021t0005g0012 a0001c0073t0007g0108 others(9): Show a0001c0004t0020g0086 a0001c0021t0005g0012 a0001c0073t0007g0108 a0002c0015t0021g0008 a0002c0030t0016g0122 a0002c0051t0006g0081 a0002c0070t0046g0092 a0003c0034t0030g0038 a0005c0107t0068g0073 a0008c0067t0059g0079 a0014c0010t0070g0084 a0038c0066t0010g0032	12	126	0.0952	-581	c.819 others(19): Show c.819-41681_819-41101del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
DYM_chr18_49031387_49465645	49452650	GGGCTCCT others(574): Show GGGCTCCTGCGTGGCCTGAGCCTCCCTGACGAGCGCCGCTCCCTGCTCCC CAGCGCCTGGTCCCATCAACCGCCCAAGGGCTGAGGAGTGCAGGCGCACA GCGCGGGACTGGCAGGCAGCTCTGCCTGCGGCCCTGGTGCAGGATCCACC AGGTGAAGCCAGCTGGGCTCCTGAGTCTAGTGGGGACTTGGAGAACCTTT ATGTCTAGCTAAGGGATTGCAGATACACCAATCAGCACTCTGTGTCTAGC TCAAGGTTTGTGAACAGACCAATCAGCACCCTGTGTCTAGGCTCAGGGTT TGAGGATGCACCAATCGGCACTCTGTATCTAGCTAATCTGGTGGGGACTT GGAGAATCTTTATGTCTAGCTAAGGGATTGTAAATACACCAATCAGCACT CTGTGTCTAGCTCAAGGTTTGTAAATGTACCAATCCACACCCTGTGTCTA GCTCAAGGTTTGTAAATGCACCAATCAGCACTCTGTATCTAGCTCAGGGT TTGTAAATATACCAATCAGTACTCTGTATCTAGCTAATCTAGGGGGGACT TGGAGAACTTTTGTGTCGAGCTCAGGGATTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(88): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18961.hp1 NA18971.hp1 NA18992.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA20300.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0003t0009 a0001c0003t0024 a0001c0003t0026 a0001c0007t0002 a0004c0008t0005	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 others(88): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0253 a0001c0001t0002g0232 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0003g0010 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0252 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0271 a0001c0001t0004g0257 a0001c0001t0005g0121 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0276 a0001c0001t0007g0002 a0001c0001t0010g0145 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0011g0240 a0001c0001t0011g0241 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0013g0070 a0001c0001t0013g0086 a0001c0001t0013g0087 a0001c0001t0017g0282 a0001c0001t0018g0143 a0001c0001t0018g0144 a0001c0001t0028g0270 a0001c0001t0029g0260 a0001c0001t0031g0114 a0001c0001t0033g0280 a0001c0001t0035g0264 a0001c0001t0036g0148 a0001c0003t0009g0003 a0001c0003t0009g0004 a0001c0003t0009g0005 a0001c0003t0009g0006 a0001c0003t0009g0007 a0001c0003t0024g0008 a0001c0003t0026g0001 a0001c0007t0002g0098 a0004c0008t0005g0263	91	290	0.3138	-581	c.-54 others(17): Show c.-54+7167_-54+7747del		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17						chr18	TogoVar
HTR7_chr10_90735823_90863039	90811351	AAAATCTA others(574): Show AAAATCTATTTTCTTCCTCACACCTGATGCCTATACTTTCTGCTCCCCAG CTCCTTCATCTCTCTGATCCACCTGACGTTCACCCCATTTCCCCACATTT CCTTCTCCCCTGTTTCTCACCCTGATCACACTTAGTTTATTGATGGCAGT TCCACCAGGCGTAATCGCCACACACCAGCAAAGGCAGGCTATGCTATAGT ACAAGCCACTAGCCCGCCTCTTAGAACCTCTCATTTCCTTTCCATTGTGG AAATCTATCCTCGAGGAAATAACTTCTCAGTATTCCATCTGCTATGCTAC TACTCCTCAGGGATTATTCAGGCCCCCTCTCTTCCCTACACATCAAGTTC AGGGATTTGCCCCCGCCCAGGACTGGCAAATTAGCTTTACTCAACATGCC CCGAGTCAGGAAACTAAAATACCTCTTATTCTAAGTAGACACTTTCACTG AATAAGTAAAGGCCTTTCCTACAGGGTCTGAGAAGGCCACCGTAGTCATT TCCTCCCTTCTGTCAGACATAATTCCTTAGTTTAGCCTTCCCACCTCTAT ACAGTCTGATAACAGACCAGCCTTTATTAGTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	404	0.0025	-581	c.539 others(19): Show c.539+45201_539+45781del		HTR7	ENSG00000148680.16	transcript	ENST00000336152.8	protein_coding	1/3						chr10	TogoVar
OSBPL1A_chr18_24157052_24402824	24245984	TGGATCAC others(574): Show TGGATCACCCGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAA ACCCCATCTCTACTAAAAATATACAAAAATTAGGCAGGCGTGGTGGCAGG AGCCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAA CCTGGGAGGCAGAGGTTGTAGTGAGCCAAGATCACACCACTGCACTCCAG CCTGGGCAACAAGAGCGAAACCCCGTCTTGAAAAATAAATAAATAAATAA ATATGTAAGAATAAAGACTAAATTAAGAACTAAGAATAAAGCCACCTAAG GGACCGAGGCAGATTTACCTGATGGGAGGAAACTGAAATGAGTAAGGGAT GTGCACAGGGCTTGCAAACCACAGCTGAAACTCTGGTTTTGACTCTGAGT GAAATGGGAAGCCAGTGGAGGAGGGGAAGAAGTAACATTATTTTATTTAC TTTTTACTATGATCCCCATGGTTATAATGCTGAAAAGGGGATGGAGGAGC CAAGAGTAGAATAAAAGAAGATCCCAGGTGGGTGCAGTGGCTCATACCTG TAATCCCAGCACTTTAGCAGGCAGAGGTGGGC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	206	0.0049	-581	c.128 others(19): Show c.1282-7183_1282-6603del		OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	15/27						chr18	TogoVar
SCML2_chrX_18234313_18359688	18260594	TTTTGAGG others(574): Show TTTTGAGGTTCCCTGTAAGACAAGTTTTTTCACATTGCTAAAGAAAAGTC TGTAAATCTCTAACCCAGAGCAATACCTCCAATAGAAAAAAAATCTCAGC AAGGCAGAGGACAGAGTTTATTTTCAGAAAGAAGTTGCTCATCTAGTTAG TCTTCGCTGTGTCTAACCCACAGTTCTCCATATTACATACAATAATTCTG ACAAAATCACAACAGATGGCTTGCTAAAGTCTATACAAAATTATGCCTAC TGCCTATAAGAACCAATGTTTCCTGAGCATTGTTAAACTTCACTAGCATT TTGTTTATTTTACATCAACTCTTGGGGTTTTCCAGGAGCTACCTTCAAAC ATGACTCTCCAATATAAGAGAAGGGACTCCTGTGCATAGAAAAGGTAATA ACAGAGGGCATTTAAAAGGCAGGAACAAAGGAGTAAAAAATAGAACATTC GATGTTGCTGAAATTTATTTGCTTAAATTAATGGCTGTCGTTTGGGTTGA CAGTAATCTAGTAAACCACATTTTTTGTTTATTTAACATTGATACAGTGT TCTTTATCAATGTTAAAGAAACAAAAAATGTG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp1 others(9): Show HG01891.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 others(9): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237	12	247	0.0486	-581	c.949 others(15): Show c.949-884_949-304del		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14						chrX	TogoVar
SFI1_chr22_31491536_31623588	31591685	CTGGGCAG others(574): Show CTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGAGGGCTGAC CCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(101): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19004.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0004 a0009 others(6): Show a0002 a0004 a0009 a0013 a0014 a0015 a0016 a0017 a0018	a0002c0002 a0004c0004 a0009c0011 others(6): Show a0002c0002 a0004c0004 a0009c0011 a0013c0037 a0014c0014 a0015c0015 a0016c0016 a0017c0018 a0018c0022	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(8): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0004c0004t0001 a0009c0011t0001 a0013c0037t0001 a0014c0014t0001 a0015c0015t0001 a0016c0016t0001 a0017c0018t0001 a0018c0022t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(101): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0138 a0002c0002t0001g0165 a0002c0002t0001g0252 a0002c0002t0001g0322 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0005g0055 a0004c0004t0001g0024 a0004c0004t0001g0034 a0004c0004t0001g0036 a0004c0004t0001g0037 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0048 a0004c0004t0001g0050 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0213 a0009c0011t0001g0044 a0009c0011t0001g0045 a0009c0011t0001g0046 a0009c0011t0001g0047 a0013c0037t0001g0082 a0014c0014t0001g0090 a0014c0014t0001g0095 a0015c0015t0001g0056 a0015c0015t0001g0057 a0016c0016t0001g0038 a0016c0016t0001g0041 a0017c0018t0001g0196 a0017c0018t0001g0199 a0018c0022t0001g0019 a0018c0022t0001g0072	104	322	0.3230	-581	c.154 others(19): Show c.1544+2142_1544+2722del		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31591769	GGGGGGGC others(574): Show GGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGTGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CAGGCGGAGGGCTGACCCCCCCACCTCCCTCCCAGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGTTG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGTGGCTGGCCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02886.hp2 others(6): Show HG02109.hp2 HG02622.hp2 HG02886.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp1	a0007 a0007	a0007c0007 a0007c0023 a0007c0024 a0007c0007 a0007c0023 a0007c0024	a0007c0007t0001 a0007c0023t0001 a0007c0024t0001 a0007c0007t0001 a0007c0023t0001 a0007c0024t0001	a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0298 others(6): Show a0007c0007t0001g0296 a0007c0007t0001g0297 a0007c0007t0001g0298 a0007c0007t0001g0299 a0007c0007t0001g0301 a0007c0007t0001g0303 a0007c0007t0001g0310 a0007c0023t0001g0302 a0007c0024t0001g0300	9	322	0.0280	-581	c.154 others(19): Show c.1544+2245_1544+2825del		SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32					INFO_REALIGN_3_PRIME	chr22	TogoVar
SKI_chr1_2223319_2315213	2281208	AGGACGCC others(574): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGA GAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGA CGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACA GGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTG GTGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0099 a0001c0001t0009g0099	1	330	0.0030	-581	c.970 others(19): Show c.970-21767_970-21187del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628287	ACGGGGTG others(574): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGG ACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0128 a0003c0006t0001g0128	1	352	0.0028	-581	c.299 others(16): Show c.299-1442_299-862del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
ASAP1_chr8_130047104_130448674	130049176	GGAACACA others(573): Show GGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGGGAACATATGGGGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGG GCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGA GAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAGA GGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGG CAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGA ACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGA GGGCAGAGGGGAACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01258.hp2 others(2): Show HG01168.hp2 HG01169.hp2 HG01258.hp2 HG01934.hp2 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 others(2): Show a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0230 a0002c0002t0004g0231	5	308	0.0162	-580	c.49 others(11): Show c.4975_*5554del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2927		chr8	TogoVar
CYP4F11_chr19_15907377_15939529	15931529	GGAATGAG others(573): Show GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp2 HG02055.hp1 HG03098.hp2	a0001 a0004 a0001 a0004	a0001c0006 a0004c0007 a0001c0006 a0004c0007	a0001c0006t0114 a0004c0007t0179 a0001c0006t0114 a0004c0007t0179	a0001c0006t0114g0122 a0004c0007t0179g0211 a0001c0006t0114g0122 a0004c0007t0179g0211	2	386	0.0052	-580	c.198 others(17): Show c.198+2102_199-1929del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931663	AGGAGAGG others(573): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0109 a0008c0015t0109	a0008c0015t0109g0123 a0008c0015t0109g0123	1	386	0.0026	-580	c.198 others(17): Show c.198+1968_199-2063del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932421	CGAGGAGA others(573): Show CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0209 a0004c0007t0031g0209	1	386	0.0026	-580	c.198 others(17): Show c.198+1210_198+1789del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933285	GAGAGGAA others(573): Show GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAG GAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG CAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATG AGTGAGTGAGGAGAGGAATGAGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02165.hp1 HG02809.hp2 others(1): Show HG02083.hp2 HG02165.hp1 HG02809.hp2 HG03579.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0007 a0001c0002 a0002c0001 a0004c0007	a0001c0002t0008 a0002c0001t0004 a0004c0007t0112 others(1): Show a0001c0002t0008 a0002c0001t0004 a0004c0007t0112 a0004c0007t0161	a0001c0002t0008g0236 a0002c0001t0004g0311 a0004c0007t0112g0210 others(1): Show a0001c0002t0008g0236 a0002c0001t0004g0311 a0004c0007t0112g0210 a0004c0007t0161g0208	4	386	0.0104	-580	c.198 others(15): Show c.198+346_198+925del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
DIP2C_chr10_269201_694668	321971	GCGGGGCT others(573): Show GCGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTG CGGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCG GGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGG GGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGG GCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGG CTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCCGTCGGGGGTGCGGGGC TCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTC CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCC GGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACCAGTGTTGTTAGAACAGTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0077 a0001c0007t0002g0077	1	88	0.0114	-580	c.392 others(19): Show c.3924+4455_3924+5034del		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36						chr10	TogoVar
MTRES1_chr6_107023199_107056586	107055069	AGGCTCAC others(573): Show AGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATC ACAAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTC TCTACTAAAACACAAAAAAACAATTAGCCAGGTGTGGTGGCGGGCGCCTG TAGTCCCAGCTATTCAGGAGGCAGAGGCAGGGGAATCGCTTGACCCCAGG AGGCAGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGT GACAGAGCGAGACTCTGTCTCAAAAAAAATAAAAATTTTTTTAAAAATGA ATAAAATAATATTATCCCCCAAATGTCTACTTTAAAAAAAATGTTAAAAA TAATAAACTATTGCCTACCCATCTATGTAAATTTCCAGGGAAACTAGTAA ATGCTATTTTAAAAAAATTTTTTTATTATCTTTTTATTTTTCCCTACTTT CAAGCTAACAAGTTATAGTAAATGCTGTTTGGCAGGGAAATGCAGTTAGC ACCATGTTTCCTACAGGAGATCTGTTTCTTTTGAAAGGATTACCGTTACT GGTAAAAGAGCTGGCTGGGGTCAGGTGCAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03486.hp1 NA20300.hp1 HG03225.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0078 a0001c0001t0001g0019 a0001c0001t0001g0078	3	406	0.0074	-580	c.38 others(11): Show c.3834_*4413del		MTRES1	ENSG00000130349.10	transcript	ENST00000311381.8	protein_coding					3484		chr6	TogoVar
MYT1L_chr2_1784113_2336275	2035501	AACAATCT others(573): Show AACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTTCTC CCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAACTT CTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCCTAA CTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGAGCTCC TAACTTCTCCCCACAATCTCCCCCCTCCAATGTGGGTGCAGAAGAGAGCT CCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGAAGAGA GCTCCTAACTTCTCCCCACAATCTCCACCCTCCAATGCGGGTGCAGAAGA GAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGCAGA AGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGCGGGTGC AGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCATCCTCCAATGCGGG TGCAGAAGAGAGCTCCTAACTTCTCCCCAACAATCTCCACCCTCCAATGC GGGTGCAGAAGAGAGCTCCTAACTTCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0070 a0001c0014t0002g0070	1	104	0.0096	-580	c.-15 others(21): Show c.-158+17897_-158+18476del		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24						chr2	TogoVar
SKI_chr1_2223319_2315213	2281338	AGAGATGC others(573): Show AGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACG CCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGG CGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGT GGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGCGGTGG TGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAGGACAGGC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	330	0.0030	-580	c.970 others(19): Show c.970-21638_970-21059del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281769	AGGACGCC others(573): Show AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGC CCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAA GACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC GGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCG GAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGA GAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGC	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0276 a0001c0001t0051g0276	1	330	0.0030	-580	c.970 others(19): Show c.970-21206_970-20627del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
STAT3_chr17_42308324_42393442	42337881	TGACCTGA others(573): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0137 a0001c0001t0003g0017 a0001c0001t0002g0137 a0001c0001t0003g0017	2	302	0.0066	-580	c.550 others(14): Show c.550+270_551-25del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337941	GGACCTGA others(573): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	302	0.0033	-580	c.550 others(14): Show c.550+210_551-85del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
AGAP1_chr2_235489043_236136793	235833514	TGCTCACC others(572): Show TGCTCACCTTGACTCTCCTCATCACCCCGCCCCCTCCTCAGAGTGCTTGC TAATGTCACTCTGGATCCCACCTATCCTGGCTTCCATGTGGGTAGAAATC TTGACTTTTCGTTACAGTGAATGTCATAAAAGGTGCTCAAGAAATATATC CCGAATGAATGAATGGAACAATAACTGGTAAACCTTTAAAGATATTTATC AAATGGGATCCCACTACAAATATGGTTATAAAATGGGATCACACACTTAC ATGTGTGCATGTTTATGAATACATGTGTATAACTGAAACAAATGTTCTAT GAAATGATCCTAAGTGCATCTCACTCCAATCCTCCAATCTGGTTTTTTTT TTTTTTTTTTTAAAGCTCTGGTTGCAGCTCACTAAAGTAATTTCATGACC CACTAATTATCTCACATATTTTGTAAAACTCACATTTTTTTTGTAAAAAA AAAAAAAGCCAGTAGCAGCACTGGCTCTTTGTCCAGTATTGACATGTTAA CTGTCATCCTAGTTGAGCCAGCCCCCTCCATGTAGGCCAGTCTGGCGAAA TCCAGTGCTGTGTCTCTATGCAGTCCACGG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0055 a0001c0003t0022g0055	1	98	0.0102	-579	c.105 others(21): Show c.1050+26186_1050+26764del		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP1_chr8_130047104_130448674	130049702	TGGGGGCA others(572): Show TGGGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGGG AACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA GGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATAC ATGGGGGGCAGAGGAGAACACATGGAGGGCAGAGGAGAACACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGA ATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGG GGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAG GGGAACACGGGGGGAAGAGGGGAACACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 NA18947.hp2 NA18973.hp2 HG01975.hp1 NA18947.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0047 a0001c0001t0001g0241 a0001c0001t0030g0046 a0001c0001t0001g0047 a0001c0001t0001g0241 a0001c0001t0030g0046	3	308	0.0097	-579	c.44 others(11): Show c.4450_*5028del		ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding					2401		chr8	TogoVar
BANP_chr16_87946434_88082316	88053762	TCACCAAC others(572): Show TCACCAACACAGCCACCCTAACAACCACTACCACCACCACCTCTACTATC TCCATCATCACCAACACAACCACCTTAACAACCACTACCACCCCCACCTC CTTCACTATCATCACCATCACCAACACAGTCCCCTTCACCACCACCACCA CCTCTACCACTGTCATCTCCATCATCATCACCAACACAACCACCCTAACA GCCACTCCCACCTCCTTCACTATCATCACCATCACCAACACAACCACCTT TACCACCACCACCACCTCTACCACTGTCATCTCCATCATCATCATCACCA ACACAACCACCTTCACCACCACCTCTACTGTCATCTCCATCATCATCACC AGCACAACCACAACCACCTTAACAAACACTACCACCACCACCTCCACCAT CATCTCCATCATCATCATCATCACCAACACAACCACCCTAACGACTACCA CCCCCACCTCCTTCACTATCATCACCATCACCAACACAGTCACCTTCACC ACCACCACCACCTCTACCACTGTCATCTCCATCATCATCACCAACACAAC CACCTTCACCACTGTCATCTCCATCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04204.hp2 HG02300.hp1 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0167 a0001c0004t0004g0348 a0001c0004t0004g0167 a0001c0004t0004g0348	2	352	0.0057	-579	c.131 others(21): Show c.1312-11424_1312-10846del		BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	11/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
GALNT9_chr12_132191372_132334589	132223361	ACNNNNNN others(572): Show ACNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0008	1	183	0.0055	-579	c.107 others(21): Show c.1078-20250_1078-19672del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
LY6E_chr8_143013529_143027409	143014822	AGGAGGGA others(572): Show AGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGA GTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCT GTGTGAGGAGGAGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGTGAGG AGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAG GGAGTCCTGTGTGAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAGTCCT GTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGG AGGAGGAGGGAGTCCTGTGTGAGGAGGAAGGAGTCCCATGTGAGGAGGAG GAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGGAGT CCTGTGTGAGGAGGAGGGAGTCCTGTGTGAGGGGGAGGGAGTGCCGTGTG AGGGGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCCGTGTGAGGAGGAG GGAGTCCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCC GTGTGAGGAGGAGGGAGTGCCGTGTGAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	377	0.0027	-579	c.-38 others(11): Show c.-3821_-3243del		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3706		chr8	TogoVar
MUC12_chr7_100964565_101023936	101003637	CAGCCCGA others(572): Show CAGCCCGAGCTCAACTCCAACAACCCACTTTTCTGCCAGCTCCACAACAT TGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAACT GCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAAGA ATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTTCC CTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCCAC AGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCCCT TGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAACAA CACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAACA GCATCCCACAGCAGCCAAGACGCAACGGGAACAATAGTCCTACCTGCCCG CTCCACAACCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAGTT CAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAGGC CTCAGTGAGAAATCTACCACTTTCCACAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02109.hp1 HG02602.hp1 HG02630.hp1 others(10): Show HG02109.hp1 HG02602.hp1 HG02630.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03017.hp1 HG03225.hp1 HG03579.hp2 HG03942.hp2 HG04204.hp2 NA19066.hp1	a0004 a0007 a0036 others(3): Show a0004 a0007 a0036 a0055 a0206 a0207	a0004c0012 a0004c0013 a0004c0079 others(5): Show a0004c0012 a0004c0013 a0004c0079 a0007c0008 a0036c0014 a0055c0264 a0206c0077 a0207c0078	a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 others(5): Show a0004c0012t0001 a0004c0013t0001 a0004c0079t0001 a0007c0008t0001 a0036c0014t0001 a0055c0264t0001 a0206c0077t0001 a0207c0078t0001	a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 others(9): Show a0004c0012t0001g0287 a0004c0012t0001g0288 a0004c0013t0001g0082 a0004c0013t0001g0084 a0004c0079t0001g0083 a0007c0008t0001g0010 a0007c0008t0001g0078 a0036c0014t0001g0290 a0036c0014t0001g0291 a0055c0264t0001g0002 a0206c0077t0001g0123 a0207c0078t0001g0292	13	342	0.0380	-579	c.131 others(11): Show c.13122_13700del	p.Leu others(15): Show p.Leu4375_Thr4567del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	13180/16366	13122/16008	4374/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC12_chr7_100964565_101023936	101003685	ATTGGGCC others(572): Show ATTGGGCCGTAGTGAGGAATCGACAACAGTCCACAGCAGCCCAGTTGCAA CTGCAACAACACCCTCGCCTGCCCGCTCCACAACCTCAGGCCTCGTTGAA GAATCTACGACCTACCACAGCAGCCCGGGCTCAACTCAAACAATGCACTT CCCTGAAAGCAACACAACTTCAGGCCGTGGTGAAGAATCAACAACTTCCC ACAGCAGCACAACACACACAATATCTTCAGCTCCTAGCACCACATCTGCC CTTGTTGAAGAACCTACCAGCTACCACAGCAGCCCGGGCTCAACTGCAAC AACACACTTCCCTGACAGCTCCACAACCTCAGGCCGTAGTGAGGAATCAA CAGCATCCCACAGCAGCCAAGACGCAACGGGAACAATAGTCCTACCTGCC CGCTCCACAACCTCAGTTCTTCTTGGAGAATCTACGACCTCACCCATCAG TTCAGGCTCAATGGAAACGACAGCGTTACCCGGCAGTACCACAACGCCAG GCCTCAGTGAGAAATCTACCACTTTCCACAGTAGCCCGAGCTCAACTCCA ACAACCCACTTTTCTGCCAGCTCCACAACC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18941.hp2 NA18941.hp2	a0129 a0129	a0129c0209 a0129c0209	a0129c0209t0001 a0129c0209t0001	a0129c0209t0001g0127 a0129c0209t0001g0127	1	342	0.0029	-579	c.132 others(11): Show c.13231_13809del	p.Thr others(15): Show p.Thr4411_Thr4603del	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	2/12	13289/16366	13231/16008	4411/5335		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798968	ATGGTGGT others(572): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGACGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAA TGGTGGTGGTGATGGTGGTGGTAGTGACGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	178	0.0056	-579	c.185 others(19): Show c.1855-4884_1855-4306del		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SCML2_chrX_18234313_18359688	18260597	TGAGGTTC others(572): Show TGAGGTTCCCTGTAAGACAAGTTTTTTCACATTGCTAAAGAAAAGTCTGT AAATCTCTAACCCAGAGCAATACCTCCAATAGAAAAAAAATCTCAGCAAG GCAGAGGACAGAGTTTATTTTCAGAAAGAAGTTGCTCATCTAGTTAGTCT TCGCTGTGTCTAACCCACAGTTCTCCATATTACATACAATAATTCTGACA AAATCACAACAGATGGCTTGCTAAAGTCTATACAAAATTATGCCTACTGC CTATAAGAACCAATGTTTCCTGAGCATTGTTAAACTTCACTAGCATTTTG TTTATTTTACATCAACTCTTGGGGTTTTCCAGGAGCTACCTTCAAACATG ACTCTCCAATATAAGAGAAGGGACTCCTGTGCATAGAAAAGGTAATAACA GAGGGCATTTAAAAGGCAGGAACAAAGGAGTAAAAAATAGAACATTCGAT GTTGCTGAAATTTATTTGCTTAAATTAATGGCTGTCGTTTGGGTTGACAG TAATCTAGTAAACCACATTTTTTGTTTATTTAACATTGATACAGTGTTCT TTATCAATGTTAAAGAAACAAAAAATGTGA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0230 a0001c0001t0001g0239	2	247	0.0081	-579	c.949 others(15): Show c.949-885_949-307del		SCML2	ENSG00000102098.19	transcript	ENST00000251900.9	protein_coding	8/14						chrX	TogoVar
SCUBE1_chr22_43192280_43348372	43280930	CCCTCAGC others(572): Show CCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACC TCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCC TCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTT GGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGC CACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCAT CCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCAC CCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCT GTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCC TGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGT CATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCAC CTCCCTTGGCCACCCTCCTGTCATCTCCCTCAGCCACCCTCCTGTCACCT CCCTCTTTGGCCACCCTCCTGTCACCTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0029 a0001c0018t0008g0029	1	280	0.0036	-579	c.484 others(18): Show c.484+9537_484+10115del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
WDR70_chr5_37374318_37758435	37563089	GCCTCCCT others(572): Show GCCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCTCCCGG CCTCCCTCCCGGATGGGGGGGCTGGCTGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACTTTCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGGCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGTGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCAGGATTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACATCCTTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGCG GCTGGCCGGGCGGGGGGATGACCCCCCCCACCTCCCCCCGGATGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00735.hp2 others(52): Show HG00099.hp1 HG00558.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18995.hp2 NA19000.hp1 NA19054.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0126 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0006t0001g0007	55	242	0.2273	-579	c.918 others(19): Show c.918-41948_918-41370del		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
ZNF594_chr17_5174535_5196868	5181932	ATCTGAGC others(572): Show ATCTGAGCTGCCCTGGAAGGTCCTACTACACTGATTACACCAATAAACTT TCTTTTCCTGGTGAGTTCTCTGCTCTTTTCTAAGCTCCTCATCCTTGCTG AAGGTTTTCTCACATTCTTCAAGTTTCTCTCCAGCATGCAGTCTCTGATG TTTGAGGAAAGCCGTGTGCCACATGAAGAGTTTCCCACATTCCTTACATT CATAGGGTTTCTCACCACTATGAAGTCTCCGATGTTGAATAAGGAGGGAA CGCCGCCTGAAGGCATTCCCACATTCACTGCACTGATAGGGTTTCTCTCC AGTATGGATTTTCTGGTGTGTAGCAAGGTGTGACCTCTGGCTGAAGGCTT TCCCACATTCACTACATTCATAGGGTTTCTCTCCAGTATGAATACGATGG TGTTTAATAAGATCTGAGCTACCCCTAAAAGATTTCCCACATTTGTTGCA TACATAAGGTTTTTCTCCACTGTGAATTCTATGATGTCTCAGAAGGTCTG AGCTCTGATTGAAAGTTTTCCCACATTCTTTGCATTCATATGGTTTCTCT CTTGTATGAGTTACCTGATGTCTGATGAGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0024 a0007c0010t0001g0024	3	416	0.0072	-579	c.174 others(9): Show c.1746_2324del	p.Leu others(13): Show p.Leu583_Asp775del	ZNF594	ENSG00000180626.10	transcript	ENST00000575779.2	protein_coding	2/2	2465/4863	1746/2424	582/807			chr17	TogoVar
ADARB2_chr10_1172313_1742525	1239652	CCCTCCCG others(571): Show CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGCTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTGCCT CCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCG GTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGT GTTCACTCCCCTCTCCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTT ACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCCCTCCCGGTGTTTAC TCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCCGGTGTTTACT CCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCC CCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCC CCCTCCCTCCCGGTGTTTACTCCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0034 a0001c0001t0030g0034	1	106	0.0094	-578	c.136 others(19): Show c.1361+1901_1361+2478del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ASMT_chrX_1610059_1648081	1637540	CCATGAGG others(571): Show CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAT CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGGCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	223	0.0045	-578	c.910 others(16): Show c.910+994_910+1571del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640585	GCACATGA others(571): Show GCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCACCCATCCTGATGA	G G	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0142 a0001c0003t0002g0142	1	223	0.0045	-578	c.911 others(17): Show c.911-2217_911-1640del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8						chrX	TogoVar
ASMT_chrX_1610059_1648081	1640756	GAGGATGT others(571): Show GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	223	0.0045	-578	c.911 others(17): Show c.911-2037_911-1460del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640766	GCACAGCC others(571): Show GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGG CACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTC CATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATTAGGATGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	223	0.0045	-578	c.911 others(17): Show c.911-2019_911-1442del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640784	AGATAGGG others(571): Show AGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGA TCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT TAGGATGTGGACACAGCCTCTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	223	0.0045	-578	c.911 others(17): Show c.911-1999_911-1422del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
DCC_chr18_52335197_53540899	53085995	CTCCTTCT others(571): Show CTCCTTCTTCTCCTTCTCCTTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCTTCTCCTTCTCCTTCTCCCTCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTT CTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTT CTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCT TCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTC TTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCT TTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02922.hp1 NA18966.hp2 others(2): Show HG02257.hp1 HG02922.hp1 NA18966.hp2 NA18979.hp2 NA19065.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0005c0021	a0001c0002t0005 a0001c0002t0034 a0001c0003t0032 others(2): Show a0001c0002t0005 a0001c0002t0034 a0001c0003t0032 a0002c0001t0005 a0005c0021t0031	a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0003t0032g0109 others(2): Show a0001c0002t0005g0050 a0001c0002t0034g0091 a0001c0003t0032g0109 a0002c0001t0005g0078 a0005c0021t0031g0004	5	114	0.0439	-578	c.126 others(21): Show c.1261+19831_1261+20408del		DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT9_chr12_132191372_132334589	132233052	AGAGGAGA others(571): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAGG AGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CGTGGAGTCCCTACTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	183	0.0055	-578	c.107 others(21): Show c.1077+14280_1077+14857del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
KCTD2_chr17_75042225_75070886	75065090	CGCCGTTT others(571): Show CGCCGTTTCCTTCATTCCTCTTAGATTCCATAGTTGCCGCCATGAAAAGA CTGCTCTTGAGCCCCAAGGCACAGGCACGTGCTCTGGGAAATAGACAGGA GTGGTATTTCCGCCCTCTCGGAGGGCTGGTGTTCACCAAGTTTCCCTCCT CGCTGCAACCCAATGACACCTGTATTGTTCCAGCGCTCCAGGACTCTGGG TTCTTAAGATTTCTGGGAGCGTTGTTCACCCACCCCCTTTAGGAACCAGG CTGGTGTTCTTGCTTGAAAGCGTTGTGCCCTCTGAGTGTCTGGCTGATCA CATCAGAGAGGTCTGCGTGGCAGTTTGGGGCTGTCACGTGACCAGTGACC CACACTCTCTGCTGCCCAGTACTGCCAAGTGGGGAGGGTCCTGCCTTTTT CTCTGCCCCAGGTCTGGGACGCAGGTGATGCCAGCCAGGCCCAGGAGTGC CCAGCATCCCCCAACTGATGACACAGTAGCACTGATTCTGTCTTTTCCTC AGAATCTGGCCTTTTTCCATGGCAATGAGGTGGGGCCCAGCCTCCTCTAA AGTGACTTTGTTTCTGCACAGTTGTAACT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0144 a0001c0001t0032g0144	1	408	0.0025	-578	c.20 others(11): Show c.2046_*2623del		KCTD2	ENSG00000180901.11	transcript	ENST00000322444.7	protein_coding	6/6				2046	INFO_REALIGN_3_PRIME	chr17	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(571): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	350	0.0029	-578	c.25 others(11): Show c.2586_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
LUC7L_chr16_183990_234449	186689	GACACGGG others(571): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAATACCAACACGGGAGGAACAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	350	0.0029	-578	c.19 others(11): Show c.1931_*2508del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2300		chr16	TogoVar
MAPK9_chr5_180228143_180297083	180286145	TTTCTTTT others(571): Show TTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCAGCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAC TGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTATGATCCGCCCGCCT CAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCT CCTACTGTAATTCTTATGAAGAATAGCTTGGTATAACAACGTAATCTTTC TTTGATAATCAAGAACCTTGCAGCTCTCAGGGCCATCCTCTGTAGTTCTT AAGCCACAGTATATACCACAATACAGAACAACTAGCATTTGGTTATCACT TCACCCACTGTTGGATCCATAGGACCCTGCAAGGATCTCCGTCACCAGCC CCACTTCCAGGCACCCAGGCCTGCCTATTTCCCTCTCAATCCCCCACTCC CAGGGCCCTGGGTAAGGGCTTCTCGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp1 HG01192.hp2 others(16): Show HG00609.hp2 HG00642.hp1 HG01192.hp2 HG02056.hp2 HG02080.hp2 HG02132.hp2 HG03486.hp1 HG03834.hp2 HG03927.hp1 NA18612.hp1 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18983.hp1 NA18990.hp2 NA18991.hp1 NA19009.hp2 NA19010.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0017 a0001c0001t0001g0211 a0001c0001t0001g0244 others(15): Show a0001c0001t0001g0017 a0001c0001t0001g0211 a0001c0001t0001g0244 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0037g0285	19	372	0.0511	-578	c.-48 others(17): Show c.-48+5125_-47-5538del		MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding	1/11						chr5	TogoVar
NKD2_chr5_1003802_1043943	1022416	GCTGTGGG others(571): Show GCTGTGGGCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGT GTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGC CCTTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCC CTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTC CCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCGCT GTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGT CCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCCCT TTGTCCCTGCTCTTCCCACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTAGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTG TGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCTGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	319	0.0031	-578	c.142 others(17): Show c.142-9724_142-9147del		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)