Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OTOGL_chr12_80094537_80385880	80307771	TGGCTGGC others(172): Show TGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCACCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	168	0.0060	-179	c.333 others(19): Show c.3333+2103_3333+2281del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTOGL_chr12_80094537_80385880	80307798	CTTCCCAG others(172): Show CTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACAGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG AGCGGCTGGCCGGGCAGAGGGGCTCCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02145.hp1 others(11): Show HG00639.hp1 HG01243.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp2	a0003 a0007 a0009 others(6): Show a0003 a0007 a0009 a0012 a0018 a0020 a0022 a0029 a0030	a0003c0008 a0007c0031 a0009c0020 others(7): Show a0003c0008 a0007c0031 a0009c0020 a0009c0021 a0012c0014 a0018c0026 a0020c0028 a0022c0038 a0029c0025 a0030c0040	a0003c0008t0014 a0007c0031t0015 a0009c0020t0006 others(8): Show a0003c0008t0014 a0007c0031t0015 a0009c0020t0006 a0009c0021t0001 a0012c0014t0003 a0012c0014t0012 a0018c0026t0009 a0020c0028t0004 a0022c0038t0009 a0029c0025t0017 a0030c0040t0004	a0003c0008t0014g0088 a0007c0031t0015g0163 a0009c0020t0006g0024 others(11): Show a0003c0008t0014g0088 a0007c0031t0015g0163 a0009c0020t0006g0024 a0009c0020t0006g0061 a0009c0021t0001g0003 a0009c0021t0001g0004 a0012c0014t0003g0010 a0012c0014t0003g0153 a0012c0014t0012g0015 a0018c0026t0009g0049 a0020c0028t0004g0002 a0022c0038t0009g0074 a0029c0025t0017g0091 a0030c0040t0004g0012	14	168	0.0833	-179	c.333 others(19): Show c.3333+2132_3333+2310del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	29/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
OTUD7A_chr15_31470398_31875673	31510605	AACATACA others(172): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18998.hp2 NA18956.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0133 a0001c0001t0004g0195 a0001c0001t0002g0133 a0001c0001t0004g0195	2	244	0.0082	-179	c.894 others(17): Show c.894-6966_894-6788del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510630	AACATACA others(172): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18962.hp1 NA20300.hp1 HG02615.hp2 NA18962.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0090 a0001c0001t0002 a0001c0001t0054 a0001c0001t0090	a0001c0001t0002g0146 a0001c0001t0054g0223 a0001c0001t0090g0019 a0001c0001t0002g0146 a0001c0001t0054g0223 a0001c0001t0090g0019	3	244	0.0123	-179	c.894 others(17): Show c.894-6991_894-6813del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31510655	AACATACA others(172): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0043 a0001c0015t0091 a0001c0001t0043 a0001c0015t0091	a0001c0001t0043g0241 a0001c0015t0091g0021 a0001c0001t0043g0241 a0001c0015t0091g0021	2	244	0.0082	-179	c.894 others(17): Show c.894-7016_894-6838del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PALS2_chr7_24568452_24699193	24645999	ATACAAAG others(172): Show ATACAAAGGACTTTGTATCCTTGGCTGAAGTTATCAGCTGGAGGAGCTTT TGGGCTGAGACTATGGGGTTTTCTATATATAGAATTACGTCATCTGCAAA CAGAAATAGTTTGTCTTCCTCTCATCCTATCTGGATGCCCTGTATTTGTT TCTCTTGCCTGATTGCTCTGGCTGGGACTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0131 a0001c0001t0131	a0001c0001t0131g0082 a0001c0001t0131g0082	1	378	0.0027	-179	c.271 others(17): Show c.271-3612_271-3434del	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	3/11			chr7	TogoVar
PCNT_chr21_46319156_46450769	46413122	GCGGGGAA others(172): Show GCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACACGCGGCAGCAA GGTGTGGGGAGCGGGGAAGGCACGAGGCCCACCCGGGAGAGGCTGGACAC GCAGCAGCAAGGTGTGGGGAGGGGGAAGGCGTGAGGCCCCCCTGGGAGAG GCTGGACACGCGGCAGCAAGGTGTGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp2 HG02723.hp2 HG01433.hp1 HG01891.hp2 HG02723.hp2	a0015 a0025 a0015 a0025	a0015c0025 a0025c0029 a0015c0025 a0025c0029	a0015c0025t0001 a0025c0029t0001 a0015c0025t0001 a0025c0029t0001	a0015c0025t0001g0094 a0025c0029t0001g0109 a0025c0029t0001g0120 a0015c0025t0001g0094 a0025c0029t0001g0109 a0025c0029t0001g0120	3	332	0.0090	-179	c.615 others(17): Show c.6150+191_6150+369del	PCNT	ENSG00000160299.19	transcript	ENST00000359568.10	protein_coding	29/46		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZRN4_chr12_41183320_41579745	41402352	CACAGTGT others(172): Show CACAGTGTGTATATATATATATACACACACTGTGTATATATATATATACA CACAGTGTGTATATATATATATACACACACAGTGTATATATATATATATA CACACTCTGTGTGTATATATATATATACACACAGGGTGTATATATATATA TATATACGCTGTGTGTATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02486.hp2 others(8): Show HG01243.hp1 HG02109.hp1 HG02486.hp2 HG02683.hp1 HG02735.hp1 HG03130.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp2 HG04115.hp2 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0015 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0002c0002t0001 a0002c0002t0002 a0002c0015t0001 a0007c0014t0001	a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0002g0110 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0002g0110 a0001c0013t0001g0068 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0200 a0002c0002t0002g0164 a0002c0002t0002g0170 a0002c0015t0001g0137 a0007c0014t0001g0127	11	206	0.0534	-179	c.844 others(21): Show c.844-104101_844-103923del	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3R1_chr5_68210756_68306821	68223001	CACACACA others(172): Show CACACACACACATACATATATGACTATATATATGACTATATATATATGAC TGTATATAACTATATATAGTCAGCATCATCATATCATCTAATACTAATTG GGAGCTATATGTGTACAAACTCAATCATCATCATCATCATCATCATCATC ATCATCATCATCATCATCACCCAATACTTA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0122 a0002c0004t0006g0122	1	308	0.0033	-179	c.-38 others(19): Show c.-386-3286_-386-3108del	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHA6_chr1_204213853_204364929	204347163	TCGCATAT others(172): Show TCGCATATACGTGGCCAAAGGAACAACTCCATGTTTTCTAAAAGGCCTAG AGAACATACATCGGGTGCCTCTCCTCTTTCCCTTTGTATTCGTCATTTTG GCGAATTACTGGAAGATGGCAGTTATGGCCGAAAGGCTCCCATTTGCTTT TGAAAGAAGAGAAATATGGCTCTGTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0207 a0001c0006t0020g0207	1	270	0.0037	-179	c.-95 others(19): Show c.-95+12352_-95+12530del	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	1/22			chr1	TogoVar
PPP2R3B_chrX_328933_391907	377178	ACAGGGAC others(172): Show ACAGGGACGGGCCGTCCACACCCAGTGGGGCCACCATGGGGCTGTCTATA CACTACTGTATGCAGGGACGGGCCGTCCACAGTGGGGCCGCCATGGGGCT GTCTATACACTACTGTGTACAGGGACGGGCCGTCCACACCCAGTGGGGCC GCCATGGGGCTGTCTATACACTACTGTATG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03704.hp1 HG03834.hp1 others(4): Show HG02165.hp1 HG03704.hp1 HG03834.hp1 HG04199.hp1 NA19079.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0007t0008 a0001c0001t0001 a0001c0001t0007 a0001c0007t0008	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0007g0016 a0001c0007t0008g0015	7	25	0.2800	-179	c.324 others(17): Show c.324+9011_324+9189del	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	1/12			chrX	TogoVar
PRKG1_chr10_51069487_52303350	51858099	ACATATTA others(172): Show ACATATTATACATATATATAATATATATTATATATATACATATTATACAT ATATATAATATATATTATATATATACATATTATACATATATATAATATAT ATTATATATATACATATTATACATATATATAATATATATTATATATAATA CATATTATACATATATATAATATTATACAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	64	0.0156	-179	c.699 others(19): Show c.699-49407_699-49229del	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	4/17			chr10	TogoVar
RAB11FIP3_chr16_420649_528011	501342	ACTCGGAG others(172): Show ACTCGGAGAGGGTCCCCCCATTTCATAGGCAAGGAAGCTCGGAGAGGGTC TCCCATTTCATAGGCAAGGAAGCTGGGAGAGGGTCCCCCCATTTCATAGG CAAGGAAGCTCGGAGAGGATCCCCCCATTTCATAGGCAAGGAAGCTGGGA GAGGGTCCCCCCATTTCATAGGCAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0039 a0001c0014t0039	a0001c0014t0039g0112 a0001c0014t0039g0112	1	295	0.0034	-179	c.130 others(19): Show c.1302-1644_1302-1466del	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBM19_chr12_113817057_113971325	113836821	TACATACA others(172): Show TACATACACACACACACACACACGTGTCCCAAGCAATGCTTATGTGTCAG GCATACCTGTCCTCCTACTTACTACATACACACCCCCCCCCCCCCCACAT ACACACACACACACACACACGTGTCCCAAGCAATGCTTATGTGTCAGGCA TACCTGTCCTCCTACTTACTACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	356	0.0028	-179	c.278 others(19): Show c.2785+7668_2785+7846del	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	23/23			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1137538	TTCGGGCT others(172): Show TTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCGGTGGGGG GAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCAGTG GGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTGC AGTGGGGGGAGGCTCAGGCTGGGGGGAGGC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0000 a0000	a0000c0009 a0000c0009	a0000c0009t0001 a0000c0009t0001	a0000c0009t0001g0168 a0000c0009t0001g0168	1	203	0.0049	-179	c.279 others(17): Show c.279+9592_279+9770del	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SENP1_chr12_48037897_48111079	48056939	CATATTAC others(172): Show CATATTACATATATAATATATTATTTAATATATTACATATTACATATATA AATATATTATTTAATATATTACATATTACATATATAAATATATTATTTAA TATATTATATATTACATATATAAATATATTATTTAATATATTATATATTA CATATATAAATATATTATTTAATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(30): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG01070.hp2 HG01099.hp2 HG01243.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02280.hp2 HG02602.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp2 NA18940.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp2 NA18968.hp1 NA18969.hp1 NA18987.hp2 NA18999.hp1 NA19006.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0031 others(30): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0018g0053 a0001c0001t0019g0093 a0001c0001t0020g0038 a0001c0001t0021g0117 a0001c0001t0022g0132	33	394	0.0838	-179	c.140 others(19): Show c.1407+6592_1407+6770del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SERPINF2_chr17_1737871_1760265	1739939	AGGTGGCC others(172): Show AGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	445	0.0023	-179	c.-29 others(11): Show c.-2973_-2795del	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2931		chr17	TogoVar
SFI1_chr22_31491536_31623588	31591590	CAGGGGGG others(172): Show CAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGAACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCTGGGCG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01993.hp1 others(7): Show HG00738.hp2 HG01891.hp1 HG01993.hp1 HG02683.hp2 HG02818.hp2 HG03139.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1 NA19030.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0038 a0006c0008 a0006c0013 a0006c0038	a0006c0008t0001 a0006c0013t0001 a0006c0038t0001 a0006c0008t0001 a0006c0013t0001 a0006c0038t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 others(7): Show a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158 a0006c0038t0001g0033	10	322	0.0311	-179	c.154 others(19): Show c.1544+2014_1544+2192del	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SLC12A7_chr5_1045384_1117063	1069990	CGCAGCCC others(172): Show CGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAG CCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGT GAGCCCCCAGCACACGGGCATCACACTTAT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0004 a0005c0021t0004	a0005c0021t0004g0084 a0005c0021t0004g0084	1	118	0.0085	-179	c.224 others(19): Show c.2241+3464_2241+3642del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073036	GAGCCCCC others(172): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0046 a0001c0013t0003g0046	1	118	0.0085	-179	c.224 others(17): Show c.2241+418_2241+596del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073078	GAGCCCCC others(172): Show GAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	118	0.0085	-179	c.224 others(17): Show c.2241+376_2241+554del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558919	AGAATGTG others(172): Show AGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAA TGAGGGGGGAGTGAATGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTG AGGCAGAGTGAATCTGAATGAGGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0100 a0001c0013t0006g0100	1	330	0.0030	-179	c.-11 others(19): Show c.-114-5238_-114-5060del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
STEAP1B_chr7_22414444_22505188	22433239	CTGTAACA others(172): Show CTGTAACAGCCACAGGACACCTTCCCCCAACTTACTATTTCAAGCCCTTC CACCCCCTCCACATAATGACTCATTGTAACCCCAGGGAGAGAGGATTTTC CTGCTCACAAAAGCACAAAGACAGGTTAGGCCAAACCAGTTTCAAGGAGA GGAGATCTATGTAGGAAAGGGGACCCAAAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(8): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0003c0011 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 a0003c0009t0001 a0003c0011t0001 a0004c0004t0001 a0004c0004t0002 a0005c0005t0001 a0005c0005t0002 a0005c0005t0004 a0006c0006t0001 a0006c0006t0002 a0007c0007t0002 a0008c0008t0001 a0009c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 others(319): Show a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0155 a0001c0001t0001g0340 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0119 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0180 a0001c0001t0002g0341 a0001c0001t0005g0082 a0001c0001t0006g0077 a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0220 a0002c0002t0001g0230 a0002c0002t0001g0232 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0256 a0002c0002t0001g0269 a0002c0002t0001g0276 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0300 a0002c0002t0001g0311 a0002c0002t0001g0315 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0322 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0332 a0002c0002t0001g0334 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0244 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0007g0381 a0003c0003t0001g0005 a0003c0003t0001g0049 a0003c0003t0001g0184 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0195 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0203 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0361 a0003c0003t0001g0363 a0003c0003t0001g0364 a0003c0003t0001g0366 a0003c0003t0001g0367 a0003c0003t0001g0368 a0003c0003t0001g0369 a0003c0003t0001g0370 a0003c0003t0001g0374 a0003c0003t0001g0378 a0003c0003t0002g0048 a0003c0003t0002g0050 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0183 a0003c0003t0002g0185 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0194 a0003c0003t0002g0196 a0003c0003t0002g0197 a0003c0003t0002g0198 a0003c0003t0002g0202 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0365 a0003c0003t0002g0371 a0003c0003t0002g0376 a0003c0003t0002g0377 a0003c0003t0002g0379 a0003c0003t0002g0380 a0003c0003t0008g0382 a0003c0009t0001g0372 a0003c0011t0001g0217 a0004c0004t0001g0159 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0174 a0004c0004t0001g0177 a0004c0004t0001g0178 a0004c0004t0001g0179 a0004c0004t0002g0158 a0004c0004t0002g0162 a0005c0005t0001g0344 a0005c0005t0001g0345 a0005c0005t0001g0348 a0005c0005t0001g0349 a0005c0005t0001g0351 a0005c0005t0001g0358 a0005c0005t0002g0350 a0005c0005t0002g0352 a0005c0005t0002g0353 a0005c0005t0002g0359 a0005c0005t0004g0355 a0005c0005t0004g0357 a0006c0006t0001g0326 a0006c0006t0001g0328 a0006c0006t0002g0327 a0007c0007t0002g0137 a0007c0007t0002g0138 a0008c0008t0001g0186 a0009c0010t0001g0346	324	384	0.8438	-179	c.763 others(19): Show c.763-13582_763-13404del	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
TACR3_chr4_103581031_103724985	103650805	TATAATAA others(172): Show TATAATAATATATTATATAATAATATATATATCTTATATATAATAATATA TATATCTCATATATAATAATATATATATCTTATATATAATAATATATATA TCTCATATATAATAATATATATATCTTATATATAATAATATATATATCTC ATATATAATAATATATATATCTTATATATA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	280	0.0036	-179	c.888 others(17): Show c.888+5210_888+5388del	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TFB1M_chr6_155251134_155319484	155305334	ATATAAAT others(172): Show ATATAAATATATATTAAATTGTATATTTATATATATAAATATATATTAAA TTGTATATTTATATATATAAATATATTATTAAATTATATATTTATATATA TAAATATATATTAAATTATATATTTATATATATAAATATATATTAAATTA TATATATAAATATATATTAAATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19054.hp1 NA19084.hp1 HG00558.hp2 NA19054.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283	3	348	0.0086	-179	c.285 others(17): Show c.285+5675_285+5853del	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
THEG_chr19_356747_381026	376906	CCCCACCC others(172): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	370	0.0027	-179	c.-11 others(10): Show c.-1115_-937del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		881		chr19	TogoVar
THEG_chr19_356747_381026	377035	CCCCACCC others(172): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0011 a0010c0017t0001g0011	2	370	0.0054	-179	c.-12 others(11): Show c.-1244_-1066del	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1010		chr19	TogoVar
TIMM22_chr17_992129_1008671	993903	CCTCACAT others(172): Show CCTCACATAATCCACCTCACATAATCCACCCCTCACATAACCCACCCTCA CATAATCCACCTCACATAATCCGCCCTCACATAATCCACCCTCACATAAT CCACCCTCACGTAATCCACCTCACATAATCCACCTCGCATAATCCACCCA CCCTCACATAATCCACACTCACATAATCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	439	0.0023	-179	c.-32 others(11): Show c.-3239_-3061del	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3225		chr17	TogoVar
TNNT3_chr11_1914703_1943702	1941656	TGCCCAGG others(172): Show TGCCCAGGCTGGACTTAAACTCCTGGGCTCAATGATCCACCCACCTTGGC CCCCCAAAGTGTCGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGAGGC TGCAGTTTTCAATGAGGTGGGTGAATGAGGCCTCCGTGGGAAGAGGGCAT GGCAAGTGTGCGGGGTCAGCACGTGCCCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(37): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01515.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02559.hp2 HG02630.hp2 HG02723.hp1 HG03041.hp2 HG03209.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18944.hp1 NA19065.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0002t0001g0003 a0001c0002t0001g0016 a0001c0002t0001g0025 a0001c0002t0001g0082 a0002c0003t0001g0037	40	125	0.3200	-179	c.31 others(11): Show c.3165_*3343del	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		2955		chr11	TogoVar
TNR_chr1_175310194_175748595	175459057	TGACCACC others(172): Show TGACCACCACCATCATCACCTCTACTATCATTACTAATACCACCAATATT ATTACCATCACCATCCCTTCTGCCATCACTACCACCTCCACCACTACCAC CAACACTATTATCATGACCTCCCCCATTGCCATTATCACCACCACCATCA CCACCATTCCCTCAATGCCATTATCACAAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0040 a0003c0001t0040	a0003c0001t0040g0041 a0003c0001t0040g0041	1	132	0.0076	-179	c.-63 others(19): Show c.-63-52459_-63-52281del	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	2/22			chr1	TogoVar
TPO_chr2_1408463_1548673	1432541	GAGGAGAG others(172): Show GAGGAGAGGCCTGCAGGTGGGGTGAGGCCTGCAGGTGAGGAGAGGCCTGC AGGTGGGGTGAGGCCTGCAGGTGAGGGGAGGCCTGCAGGTGAGGGGAGGC CTGCAGGTGAGGAGAGGCCTGCAGGTGGGGTGAGGCCTGCAGGTGGGGTG AGGCCTGCAGGTGAGGTGAGGCCCCAGGTA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0003 a0007c0026t0003	a0007c0026t0003g0052 a0007c0026t0003g0052	1	130	0.0077	-179	c.180 others(15): Show c.180-878_180-700del	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5D_chr8_35230475_35801540	35710923	TCAGCATT others(172): Show TCAGCATTATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCT CTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02257.hp1 HG02615.hp1 others(11): Show HG01928.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0005	a0001c0001t0016 a0001c0002t0006 a0001c0002t0008 others(9): Show a0001c0001t0016 a0001c0002t0006 a0001c0002t0008 a0001c0002t0013 a0001c0002t0015 a0001c0002t0020 a0001c0002t0024 a0001c0003t0003 a0001c0003t0014 a0001c0006t0004 a0002c0005t0017 a0002c0005t0018	a0001c0001t0016g0019 a0001c0002t0006g0055 a0001c0002t0008g0045 others(11): Show a0001c0001t0016g0019 a0001c0002t0006g0055 a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0013g0062 a0001c0002t0015g0043 a0001c0002t0020g0002 a0001c0002t0024g0027 a0001c0003t0003g0009 a0001c0003t0003g0022 a0001c0003t0014g0040 a0001c0006t0004g0031 a0002c0005t0017g0030 a0002c0005t0018g0054	14	64	0.2188	-179	c.111 others(19): Show c.1117+4976_1117+5154del	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VGLL4_chr3_11551069_11648915	11604819	GAAATTGC others(172): Show GAAATTGCTACTTGTGTAATGGTGAACTAAGACAGCAAAACTCAAGGTAT GTACCTCAGATGTTATTCATCGAAAAAAACAAGGGTGACCCTGGGGTCAA ATAAATTTGGAAACCGTGAGATTGAACAACTTTTACAGGAGTTTAACTAC AGGCCTTTCTGTCTTCTAATGCATCTCAGT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0356 a0001c0001t0028g0356	1	388	0.0026	-179	c.83- others(15): Show c.83-2976_83-2798del	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WDR33_chr2_127696027_127816171	127787821	CGGCTGGC others(172): Show CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00609.hp2 others(57): Show HG00140.hp1 HG00280.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01123.hp1 HG01192.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18959.hp2 NA18972.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp1 NA18994.hp1 NA19010.hp2 NA19043.hp2 NA19058.hp2 NA19065.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0030 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0003t0003	a0001c0001t0003g0064 a0001c0001t0003g0097 a0001c0001t0003g0100 others(57): Show a0001c0001t0003g0064 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0093 a0001c0001t0006g0065 a0001c0001t0006g0096 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0102 a0001c0001t0006g0103 a0001c0001t0006g0106 a0001c0001t0006g0110 a0001c0001t0006g0112 a0001c0001t0006g0114 a0001c0001t0006g0118 a0001c0001t0012g0101 a0001c0001t0012g0107 a0001c0001t0012g0113 a0001c0001t0016g0095 a0001c0001t0016g0119 a0001c0001t0021g0054 a0001c0001t0021g0076 a0001c0001t0030g0109 a0001c0001t0041g0157 a0001c0001t0044g0085 a0001c0001t0045g0077 a0001c0003t0003g0159 a0001c0003t0003g0160 a0001c0003t0003g0161 a0001c0003t0003g0162 a0001c0003t0003g0163 a0001c0003t0003g0164	60	318	0.1887	-179	c.-23 others(19): Show c.-23-16996_-23-16818del	WDR33	ENSG00000136709.12	transcript	ENST00000322313.9	protein_coding	1/21			chr2	TogoVar
WDR81_chr17_1719704_1743585	1739939	AGGTGGCC others(172): Show AGGTGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	431	0.0023	-179	c.22 others(11): Show c.2255_*2433del	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1355		chr17	TogoVar
ZNF117_chr7_64966772_64996036	64967655	TGGGGGCT others(172): Show TGGGGGCTGACCCCCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGTCTGGCTGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACAGGGCGGCTGGCCGGGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	444	0.0023	-179	c.10 others(13): Show c.10285_*10463del	ZNF117	ENSG00000152926.16	transcript	ENST00000282869.11	protein_coding		4116		chr7	TogoVar
ZNF556_chr19_2862335_2888445	2872692	ACCTGTAA others(172): Show ACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCGGGAGGTGGAGGTTGCAATGAGCCGGGATCGCGCCACTGCACTCCAGT CTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAT ATACTAAAAGGCCGGGTGTGGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18968.hp2 NA18948.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0215 a0001c0001t0002g0186 a0001c0001t0002g0215	2	448	0.0045	-179	c.4-7 others(11): Show c.4-789_4-611del	ZNF556	ENSG00000172000.7	transcript	ENST00000307635.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF641_chr12_48332180_48355919	48332507	CAGAGGGG others(172): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02976.hp1 HG03130.hp1 others(2): Show HG02486.hp1 HG02976.hp1 HG03130.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0014 a0001c0001t0009 a0001c0001t0014	a0001c0001t0009g0015 a0001c0001t0014g0066 a0001c0001t0009g0015 a0001c0001t0014g0066	5	408	0.0123	-179	c.10 others(13): Show c.10287_*10465del	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4672		chr12	TogoVar
ZNF888_chr19_52899415_52928428	52918997	CCTCTCCC others(172): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCCTCTCGCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp2 HG03471.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0150 a0002c0003t0017g0349 a0002c0003t0017g0350 a0002c0003t0017g0150 a0002c0003t0017g0349 a0002c0003t0017g0350	3	426	0.0070	-179	c.-17 others(16): Show c.-177-239_-177-61del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ABCA3_chr16_2270881_2345728	2345482	ATATGTTT others(171): Show ATATGTTTAAACTTTTATCCATCTGGGGCTTATTTTGCTGGAGTGAGCTA GCCAATTTTCTCAACACTTAAAAACATTAATCATTAAAATCTCAGTTTAC ATATAGTAGAATTCACTCCTTCTCCTAATAATAATATAATTAATTATAAT TATAAAAGTGCTTTTATAATGAAATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(33): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(33): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0003t0004g0003 a0001c0004t0001g0223 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	36	252	0.1429	-178	c.-56 others(11): Show c.-5626_-5449del	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding		4755		chr16	TogoVar
ABCG1_chr21_42214140_42302244	42283723	ACCCAGAT others(171): Show ACCCAGATGAGTGGGGACCCCCCACCTCTGTCCTGCCTGGACAGTTGTGA AGTACCCCCCAACCCAGATGAGTGGGGACCCCCCCACCTCTGTCCCGCCT GGACAGTTGCAAAGTCCCCCCGCCCAGATGAGTGGGGACCCCCCCACCTC TGTCCCGCCTGGACAGTTGCAAAGTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03704.hp2 NA19090.hp1 HG02683.hp2 HG03704.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0114 a0001c0001t0002g0183 a0001c0001t0003g0123 a0001c0001t0002g0114 a0001c0001t0002g0183 a0001c0001t0003g0123	3	354	0.0085	-178	c.735 others(15): Show c.735-834_735-657del	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ACAT1_chr11_108116567_108152603	108150550	GGGTCAGG others(171): Show GGGTCAGGTCTTTGTCTGAAGGCCCCCATGTATACAACATTAAATAAATG TATATTCCTTTTCTCCAATTAATCTGCCTTTTGCAAACAGCTTTATTTTC CAGCAAACCTTCAGAGGGCCAAGGGGAACTTCAAGGTTACAGTGAAATGA TCCTGCCACTGTACTGGGGGACAGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	386	0.0026	-178	c.31 others(11): Show c.3161_*3338del	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		2948		chr11	TogoVar
AHRR_chr5_316714_443285	345204	GTGTGTGT others(171): Show GTGTGTGTGTGTGTCGGATGATGTCCCTGGCTGTGTGTGGGGATGTGTGT GTGGGGAGAGGGGTGGGTGGGTGTGTGTGTCGGATGATGTCCCTGGCTGT GTGTGGGGATGTGTGTGTGTGTGTGTGTGGGGATGTGTGTGTGTGTGTGT CGGATGATGTCCCTGGCTGTGTGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0007	a0004c0003t0007g0221 a0004c0003t0007g0221	1	268	0.0037	-178	c.62+ others(15): Show c.62+1279_62+1456del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF10_chr8_1818926_1963641	1889521	GGGGTATT others(171): Show GGGGTATTGAGGAGACACTGAGTAGGGTAAGGAGTCTGTGTGGAGACACT GAGTGGGGTGAGGGGTTTGTGAGGAGACACTGAGTGTGGGTGAGGGGTCT GTGAGGAGTCATGGAGTGTGGTGTGAGTTGTGAGAAAACTCGGAGTGGGG TGAGGGTCGTGAGGAAACAGTGGGGTGAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03831.hp1 NA18994.hp2 HG00621.hp2 HG03831.hp1 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0051 a0001c0001 a0003c0051	a0001c0001t0002 a0001c0001t0004 a0003c0051t0006 a0001c0001t0002 a0001c0001t0004 a0003c0051t0006	a0001c0001t0002g0224 a0001c0001t0004g0141 a0003c0051t0006g0319 a0001c0001t0002g0224 a0001c0001t0004g0141 a0003c0051t0006g0319	3	363	0.0083	-178	c.118 others(19): Show c.1182+3817_1183-3868del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID5B_chr10_61896699_62101944	61983855	CCCCCTTT others(171): Show CCCCCTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(140): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01978.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0002c0009 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0003t0003 a0001c0003t0009 a0001c0005t0003 a0001c0005t0010 a0001c0006t0001 a0002c0009t0004 a0003c0008t0003	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(140): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0208 a0001c0001t0001g0236 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0090 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0135 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0188 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0115 a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0186 a0001c0001t0005g0025 a0001c0001t0005g0057 a0001c0001t0005g0076 a0001c0001t0005g0086 a0001c0001t0005g0098 a0001c0001t0005g0116 a0001c0001t0005g0124 a0001c0001t0005g0141 a0001c0001t0005g0207 a0001c0001t0005g0229 a0001c0001t0006g0028 a0001c0001t0006g0030 a0001c0001t0006g0040 a0001c0001t0006g0049 a0001c0001t0006g0108 a0001c0001t0006g0111 a0001c0001t0006g0149 a0001c0001t0007g0088 a0001c0001t0008g0077 a0001c0001t0008g0084 a0001c0001t0008g0113 a0001c0001t0008g0196 a0001c0001t0009g0144 a0001c0001t0010g0093 a0001c0001t0010g0123 a0001c0001t0011g0154 a0001c0001t0011g0233 a0001c0001t0012g0011 a0001c0001t0013g0172 a0001c0001t0013g0230 a0001c0001t0014g0047 a0001c0001t0015g0074 a0001c0001t0015g0171 a0001c0001t0016g0153 a0001c0001t0018g0163 a0001c0001t0020g0033 a0001c0001t0022g0214 a0001c0001t0023g0117 a0001c0001t0024g0039 a0001c0002t0001g0052 a0001c0002t0001g0065 a0001c0002t0001g0120 a0001c0002t0001g0225 a0001c0002t0001g0242 a0001c0002t0002g0119 a0001c0002t0005g0201 a0001c0002t0005g0215 a0001c0003t0003g0173 a0001c0003t0003g0179 a0001c0003t0009g0006 a0001c0005t0003g0240 a0001c0005t0010g0210 a0001c0006t0001g0170 a0001c0006t0001g0193 a0002c0009t0004g0063 a0003c0008t0003g0121	143	242	0.5909	-178	c.503 others(19): Show c.503-16221_503-16044del	ARID5B	ENSG00000150347.17	transcript	ENST00000279873.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
ARMS2_chr10_122449653_122462352	122457569	TGATGTGG others(171): Show TGATGTGGGTTTGTCATCAGGGTGTACCTGCTGTTAAAGGAGGTTACGAC CTCTGATGCTGGGGTGGCCAGAGGGGATGGGAGTGGGTCTGGCACTCTGA GGAAAGGGGGTGAAACCAGCTGAGAAGTCATCTTTTACCTGCTGGCATGG CCCCAGCCAGGGTTCTGTTGCTATGGGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp2 others(127): Show HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03669.hp1 HG03831.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 others(6): Show a0001c0001t0002g0012 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0033 a0003c0003t0002g0012	130	424	0.3066	-178	c.63 others(9): Show c.637_*814del	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding		218		chr10	TogoVar
ATP7A_chrX_77905693_78055395	77931650	GCCCACCT others(171): Show GCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCACCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0012 a0001c0001t0010g0012	1	233	0.0043	-178	c.-22 others(19): Show c.-22+20838_-22+21015del	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
CACNA1B_chr9_137872782_138129619	138015406	TTGTGCTG others(171): Show TTGTGCTGAGACCTCCGAGGGCTGAAAGCTGTCTGTCATCTGTCCTCGTC TGCTTCCTGTTCTCCTGGTGGGACGAGCAGCGCTGCCTCCTGCCCTGCTC TCATTTCCAGCACCTTGAGCTGCTGGGCTGTGCGAGAGCAGTGCCCTTGA GTACCCTTCACCCTTCTGCCCCCAACAGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG02895.hp1 others(5): Show HG01891.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03486.hp1 NA18906.hp1 NA19030.hp1	a0004 a0006 a0004 a0006	a0004c0023 a0004c0042 a0004c0043 others(3): Show a0004c0023 a0004c0042 a0004c0043 a0004c0054 a0006c0014 a0006c0026	a0004c0023t0042 a0004c0042t0008 a0004c0043t0009 others(3): Show a0004c0023t0042 a0004c0042t0008 a0004c0043t0009 a0004c0054t0008 a0006c0014t0006 a0006c0026t0006	a0004c0023t0042g0076 a0004c0042t0008g0121 a0004c0043t0009g0078 others(5): Show a0004c0023t0042g0076 a0004c0042t0008g0121 a0004c0043t0009g0078 a0004c0054t0008g0013 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143 a0006c0026t0006g0144	8	248	0.0323	-178	c.226 others(19): Show c.2267+2179_2267+2356del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CADM2_chr3_84953989_86079429	85769014	CATATATA others(171): Show CATATATACATATATAGTATATATACACATATATACATATATAGTATATA TACACATATATACATATATAGTATATATACACATATATACATATATGTAT ATATACACATATATACATATATAGTATATATACACATATATACATATATA GTATATATACACATATATACATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG01361.hp2 others(9): Show HG00621.hp2 HG00738.hp1 HG01361.hp2 HG02622.hp1 HG03130.hp2 HG03834.hp1 NA18950.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA19003.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0079 others(9): Show a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0010g0067 a0001c0001t0010g0146 a0001c0001t0017g0089 a0001c0001t0017g0135	12	146	0.0822	-178	c.89- others(17): Show c.89-33023_89-32846del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CARD10_chr22_37485362_37524415	37509779	GGCCCCAG others(171): Show GGCCCCAGCCCTGGTACCTGCTGCAGGCCCTCCTGACCTCCTGCCAGCCT GTGCCCACAAGCCCCAGCCCTGGTACCTACCGCAGGCCCTCCTGACCACC CCCCACCCCCGTGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGCCCT CCTGACCTCCTGCCAGCCTGTGCCCACAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0214 a0001c0003t0001g0214	1	276	0.0036	-178	c.909 others(15): Show c.909+255_909+432del	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar

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Search Results (Total: 10000 hits)