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
NDC80_chr18_2566557_2621635	2614439	AAAAGAAA others(163): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0134 a0001c0005t0001g0134	1	402	0.0025	-170	c.179 others(19): Show c.1792-1953_1792-1784del	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NID1_chr1_235970830_236070090	236038670	TATATTAC others(163): Show TATATTACCTATGTTATATAGGTCATATATAATATATATTACCTATGTTA TATAGGTCATATATAATATATATTACCTATGTTATATAGGTCATATATAA TATATATTACCTATGCTATATAGGTCATATATAATATATATTACCTATGT TATATAGGTCATATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18957.hp1 NA18967.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0013 a0014 a0015 a0018 a0019 a0020 a0025 a0026 a0028 a0032 a0034 a0037	a0001c0001 a0001c0006 a0002c0002 others(24): Show a0001c0001 a0001c0006 a0002c0002 a0002c0017 a0003c0004 a0003c0007 a0003c0053 a0004c0005 a0004c0052 a0005c0003 a0006c0010 a0009c0011 a0010c0018 a0012c0022 a0013c0014 a0014c0025 a0015c0035 a0015c0064 a0018c0032 a0019c0026 a0020c0028 a0025c0040 a0026c0042 a0028c0038 a0032c0048 a0034c0051 a0037c0056	a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 others(34): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0006t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0017t0011 a0003c0004t0001 a0003c0007t0001 a0003c0007t0006 a0003c0053t0001 a0004c0005t0002 a0004c0052t0002 a0005c0003t0001 a0006c0010t0001 a0009c0011t0002 a0010c0018t0001 a0012c0022t0002 a0012c0022t0004 a0012c0022t0009 a0013c0014t0001 a0014c0025t0002 a0015c0035t0001 a0015c0064t0003 a0018c0032t0001 a0019c0026t0001 a0020c0028t0002 a0025c0040t0002 a0026c0042t0001 a0028c0038t0001 a0032c0048t0001 a0034c0051t0001 a0037c0056t0001	a0001c0001t0002g0018 a0001c0001t0002g0131 a0001c0001t0002g0135 others(90): Show a0001c0001t0002g0018 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0261 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0013g0272 a0001c0001t0015g0207 a0001c0001t0016g0139 a0001c0006t0002g0279 a0002c0002t0001g0151 a0002c0002t0001g0161 a0002c0002t0001g0185 a0002c0002t0001g0311 a0002c0002t0001g0317 a0002c0002t0003g0295 a0002c0002t0005g0293 a0002c0002t0006g0132 a0002c0017t0011g0214 a0003c0004t0001g0123 a0003c0007t0001g0029 a0003c0007t0001g0035 a0003c0007t0001g0049 a0003c0007t0001g0127 a0003c0007t0001g0287 a0003c0007t0001g0298 a0003c0007t0006g0102 a0003c0053t0001g0037 a0004c0005t0002g0030 a0004c0005t0002g0036 a0004c0005t0002g0039 a0004c0005t0002g0042 a0004c0005t0002g0054 a0004c0005t0002g0056 a0004c0005t0002g0057 a0004c0005t0002g0059 a0004c0005t0002g0070 a0004c0005t0002g0089 a0004c0005t0002g0104 a0004c0005t0002g0112 a0004c0005t0002g0121 a0004c0005t0002g0297 a0004c0052t0002g0062 a0005c0003t0001g0149 a0006c0010t0001g0086 a0009c0011t0002g0178 a0009c0011t0002g0227 a0009c0011t0002g0240 a0009c0011t0002g0253 a0009c0011t0002g0262 a0010c0018t0001g0321 a0012c0022t0002g0014 a0012c0022t0004g0008 a0012c0022t0009g0007 a0013c0014t0001g0254 a0013c0014t0001g0256 a0013c0014t0001g0257 a0013c0014t0001g0268 a0014c0025t0002g0323 a0014c0025t0002g0327 a0015c0035t0001g0283 a0015c0064t0003g0320 a0018c0032t0001g0326 a0018c0032t0001g0329 a0019c0026t0001g0249 a0019c0026t0001g0250 a0020c0028t0002g0252 a0020c0028t0002g0296 a0025c0040t0002g0206 a0026c0042t0001g0183 a0028c0038t0001g0302 a0032c0048t0001g0307 a0034c0051t0001g0093 a0037c0056t0001g0040	93	334	0.2784	-170	c.113 others(17): Show c.1136-587_1136-418del	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	4/19			chr1	TogoVar
NTM_chr11_131365615_132341822	131789466	GAAGAAGA others(163): Show GAAGAAGAAGAAGAAGAAGAAGAAGAGGAAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	86	0.0116	-170	c.83- others(19): Show c.83-122072_83-121903del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUP188_chr9_128942699_129012096	128954249	TTGTGGCC others(163): Show TTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCT CTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTGTGACAATGTCTTAGTCTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03579.hp1 NA18979.hp1 HG02895.hp2 HG03579.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0096 a0001c0002t0001g0265 a0001c0002t0001g0266	3	296	0.0101	-170	c.161 others(17): Show c.161+1501_161+1670del	NUP188	ENSG00000095319.14	transcript	ENST00000372577.2	protein_coding	3/43		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCGF3_chr4_700832_775089	745268	CCCGGGGG others(163): Show CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0057 a0002c0002t0057	a0002c0002t0057g0330 a0002c0002t0057g0330	1	366	0.0027	-170	c.462 others(15): Show c.462+583_462+752del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745382	CCCGGGGG others(163): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0032 a0001c0001t0022g0032	1	366	0.0027	-170	c.462 others(15): Show c.462+697_462+866del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745496	CCCCGGGG others(163): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	366	0.0027	-170	c.462 others(15): Show c.462+816_462+985del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745670	GGGGGTCG others(163): Show GGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	366	0.0027	-170	c.462 others(16): Show c.462+987_462+1156del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	745980	GCCGTGGA others(163): Show GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTC	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03942.hp2 NA19004.hp2 HG03239.hp2 HG03942.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0055 a0001c0001t0006g0081 a0001c0001t0006g0086 a0001c0001t0003g0055 a0001c0001t0006g0081 a0001c0001t0006g0086	3	366	0.0082	-170	c.462 others(17): Show c.462+1381_462+1550del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747204	CCCGGGGG others(163): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0252 a0001c0001t0008g0252	1	366	0.0027	-170	c.462 others(17): Show c.462+2519_462+2688del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747376	CCGGGGGT others(163): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03654.hp2 HG02129.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0007 a0001c0001t0003 a0002c0002t0007	a0001c0001t0003g0020 a0002c0002t0007g0303 a0001c0001t0003g0020 a0002c0002t0007g0303	2	366	0.0055	-170	c.462 others(17): Show c.462+2690_462+2859del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747432	CCCCGGGG others(163): Show CCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp2 HG02735.hp1 others(19): Show HG00438.hp2 HG02135.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp1 HG03942.hp1 HG03942.hp2 NA18944.hp1 NA18957.hp2 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18986.hp2 NA18990.hp2 NA19004.hp2 NA19007.hp2 NA19055.hp1 NA19066.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 others(6): Show a0001c0001t0006 a0001c0001t0030 a0001c0001t0031 a0001c0001t0042 a0001c0001t0065 a0001c0001t0068 a0001c0003t0015 a0001c0003t0029 a0001c0003t0032	a0001c0001t0006g0003 a0001c0001t0006g0081 a0001c0001t0006g0082 others(19): Show a0001c0001t0006g0003 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0089 a0001c0001t0006g0093 a0001c0001t0006g0096 a0001c0001t0006g0097 a0001c0001t0006g0101 a0001c0001t0006g0144 a0001c0001t0030g0088 a0001c0001t0031g0104 a0001c0001t0031g0105 a0001c0001t0042g0299 a0001c0001t0065g0107 a0001c0001t0068g0145 a0001c0003t0015g0004 a0001c0003t0015g0084 a0001c0003t0015g0103 a0001c0003t0029g0130 a0001c0003t0032g0109	22	366	0.0601	-170	c.462 others(17): Show c.462+2770_462+2939del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE3A_chr12_20363537_20693583	20575828	TGATAATT others(163): Show TGATAATTTTTAGTTTCTTATGCACCTGATTGAAATAAGGGTCTTTTTTA AAAAAATGTAGCACAAAACCCAATGCAAAACAACTAAGAAATTTGGTCAA TATTTGTATATGTACACAAAGAACTTACACCTAAAACCTATTGCTATATC TTAATTTGAACTTTTTAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0128 a0002c0004t0128	a0002c0004t0128g0163 a0002c0004t0128g0163	1	198	0.0051	-170	c.101 others(21): Show c.1011+19119_1011+19288del	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15			chr12	TogoVar
PIEZO1_chr16_88710338_88790220	88728715	CGCGACAC others(163): Show CGCGACACAAAAACAAAGTGACCCTCCATGCTGGGGAACCCAGGACATGC TGAACTCACAGCCCCATCTGCCACAGAGGGAACCTCGCGACACAAAAACA AAGTGACCCTCCATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCC ATCTGCCACAGAGGGAACCTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0046 a0046	a0046c0139 a0046c0139	a0046c0139t0003 a0046c0139t0003	a0046c0139t0003g0022 a0046c0139t0003g0022	1	282	0.0036	-170	c.319 others(19): Show c.3197-1224_3197-1055del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88728911	CATGCTGG others(163): Show CATGCTGGGGAACCCAGGACATGCTGAACTCACAGCCCCATCTGCCACAG AGGGAACCTCGCGACCCAAAAACAAAGTGACCCTCGATGTTGGGGAACCC AGGACATGCTGAACCCACAGCCCCATCTGCCACAGAGGGAACCTCGTGAC CCAAAAACAAAGTGACCCTCG	C C	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0001 a0003c0030t0001	a0003c0030t0001g0203 a0003c0030t0001g0203	1	282	0.0036	-170	c.319 others(19): Show c.3197-1420_3197-1251del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	22/50			chr16	TogoVar
PIEZO2_chr18_10665247_11154569	11014986	GCCCCCTC others(163): Show GCCCCCTCATTCCTCAGTGTGGGGAAGATGTCACCCTGGGCGGGACAGCG ATCCATGACCCCCTCATTCCTCAGTGTGGGGAAGATGTCACCCTGGGCGG GACAGCGATCCGGGGCCCCCCTCATTCCTCAGCGGGGAACATGTCACCCT GGGTGAGACAGCGATCCATGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp1 HG02109.hp2 others(19): Show HG01106.hp1 HG01167.hp1 HG02109.hp2 HG02257.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0014 a0026	a0001c0002 a0001c0003 a0001c0006 others(16): Show a0001c0002 a0001c0003 a0001c0006 a0001c0021 a0001c0024 a0001c0040 a0002c0001 a0002c0015 a0002c0018 a0002c0055 a0002c0076 a0004c0022 a0005c0046 a0006c0004 a0006c0077 a0008c0034 a0009c0032 a0014c0083 a0026c0061	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(17): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0021t0002 a0001c0024t0007 a0001c0040t0001 a0002c0001t0002 a0002c0015t0002 a0002c0018t0001 a0002c0055t0002 a0002c0076t0002 a0004c0022t0002 a0005c0046t0001 a0006c0004t0001 a0006c0077t0006 a0008c0034t0002 a0009c0032t0003 a0014c0083t0002 a0026c0061t0008	a0001c0002t0001g0108 a0001c0003t0001g0118 a0001c0003t0002g0029 others(19): Show a0001c0002t0001g0108 a0001c0003t0001g0118 a0001c0003t0002g0029 a0001c0003t0002g0147 a0001c0006t0001g0148 a0001c0021t0002g0093 a0001c0024t0007g0002 a0001c0040t0001g0106 a0002c0001t0002g0040 a0002c0001t0002g0146 a0002c0015t0002g0145 a0002c0018t0001g0026 a0002c0055t0002g0140 a0002c0076t0002g0111 a0004c0022t0002g0085 a0005c0046t0001g0129 a0006c0004t0001g0120 a0006c0077t0006g0001 a0008c0034t0002g0069 a0009c0032t0003g0086 a0014c0083t0002g0132 a0026c0061t0008g0109	22	158	0.1392	-170	c.161 others(19): Show c.161-35496_161-35327del	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	2/55			chr18	TogoVar
PKP3_chr11_389209_409908	390478	CGTCCTGA others(163): Show CGTCCTGAGGCCAGACCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCC TCAGACAGACGCCCCCTTCCCCAGAGGAGCGCCGGGGTCCTGAGGCCAGA CCCCAGGAGAACCCCCGGGAGATGCCCCGCCTGCCTCAGACAGACGCCCC CTTCCCCAGAGGAGCGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02056.hp2 HG02559.hp1 others(3): Show HG00099.hp2 HG02056.hp2 HG02559.hp1 HG03209.hp2 NA20129.hp1 NA20300.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0001c0004 a0001c0008 others(2): Show a0001c0002 a0001c0004 a0001c0008 a0001c0012 a0016c0020	a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0001c0008t0001 a0001c0012t0001 a0016c0020t0001	a0001c0002t0001g0141 a0001c0004t0001g0069 a0001c0004t0001g0070 others(3): Show a0001c0002t0001g0141 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0008t0001g0093 a0001c0012t0001g0126 a0016c0020t0001g0020	6	216	0.0278	-170	c.-38 others(11): Show c.-3814_-3645del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding		3730		chr11	TogoVar
PKP3_chr11_389209_409908	400826	GACCCCGC others(163): Show GACCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCGCTCACACCCGCC CCGCTCACCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGC TCACCCCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCAC CCCCGCCCCGCTCACCCCGGA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	216	0.0046	-170	c.173 others(17): Show c.1737+122_1737+291del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	400949	GGCCCCGC others(163): Show GGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACC CCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00621.hp2 others(54): Show HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02109.hp1 HG02132.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03516.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18966.hp1 NA18970.hp1 NA18980.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19067.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0008 a0009 a0018	a0001c0001 a0001c0005 a0001c0009 others(7): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011 a0001c0018 a0004c0015 a0005c0037 a0008c0024 a0009c0023 a0018c0026	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 others(8): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0009t0001 a0001c0011t0001 a0001c0018t0001 a0004c0015t0001 a0005c0037t0005 a0008c0024t0002 a0009c0023t0002 a0018c0026t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(54): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0005t0001g0019 a0001c0005t0001g0025 a0001c0005t0001g0091 a0001c0005t0004g0002 a0001c0009t0001g0128 a0001c0009t0001g0130 a0001c0009t0001g0138 a0001c0009t0001g0171 a0001c0011t0001g0001 a0001c0011t0001g0033 a0001c0011t0001g0051 a0001c0018t0001g0059 a0004c0015t0001g0042 a0005c0037t0005g0087 a0008c0024t0002g0022 a0009c0023t0002g0052 a0018c0026t0004g0092	57	216	0.2639	-170	c.173 others(17): Show c.1737+256_1737+425del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	400961	ACCCGCCC others(163): Show ACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCG GACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACC	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02300.hp2 HG02004.hp2 HG02300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0027 a0001c0006t0001g0206 a0001c0006t0001g0027 a0001c0006t0001g0206	2	216	0.0093	-170	c.173 others(17): Show c.1737+261_1737+430del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM15_chr21_41793225_41884344	41806498	CCACCATC others(163): Show CCACCATCACCATCACCACCACCATCACCACCACCATCACTACCACCAAC ATCACCACCATCACCATCACCATACCACCACCATCACCACCACCACCATT ACTACCACCACCATCATCACCACCATCATCACCACCACCACCATCACCAC CACCATCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0025 a0001c0053 a0001c0025 a0001c0053	a0001c0025t0018 a0001c0053t0018 a0001c0025t0018 a0001c0053t0018	a0001c0025t0018g0164 a0001c0053t0018g0292 a0001c0025t0018g0164 a0001c0053t0018g0292	2	406	0.0049	-170	c.265 others(19): Show c.2653-2054_2653-1885del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PTPRM_chr18_7562316_8411856	7691946	GGGAGGAT others(163): Show GGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGAT CCCAGGAGGTTAAGGAGGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGA GGTGGAGGATGGCTAGATCCCAGGAGGTTAAGGAGGTGGAGGATGGCTAG ATCCCAGGAGGTTAAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	80	0.0125	-170	c.74- others(17): Show c.74-81900_74-81731del	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PVALB_chr22_36795703_36822035	36800007	TCCATCCA others(163): Show TCCATCCATCCCCCCACCCATCCACCCATTCATCCATCGTCCATTCACCC ACCCATCCATCCATTTACCCATCTGCCCACCCATCTACTCACCCATCCAT CTATCCATCTATCCACCCACCCATCCACCCACCCATTCATCTACCCACCC ATCCATCCATCCATTCATCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02451.hp1 HG03225.hp2 others(3): Show HG01192.hp1 HG02451.hp1 HG03225.hp2 HG03942.hp2 NA18972.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0075 a0001c0001t0001g0247	6	421	0.0143	-170	c.71 others(9): Show c.713_*882del	PVALB	ENSG00000100362.13	transcript	ENST00000417718.7	protein_coding		695		chr22	TogoVar
RAB17_chr2_237569326_237595734	237593014	TGTGGCAG others(163): Show TGTGGCAGGGGACAGGGCACAGAGCTTCTGCAGCTCAGAGGAGAGAGCCC TGTGTTCACAGTGGCTCTCACCATGGCCTGGAGTAAAACCAGCACAGCCC CTCTAGCATCCCCGGGTGGACAGGGTCGATGCCTGTGTAGTTATCTCTGG ATGTGTAACACATACCCACTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(50): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01952.hp1 HG01952.hp2 HG02071.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18976.hp1 NA18978.hp1 NA18980.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19007.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19091.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0020 a0002c0003 others(4): Show a0001c0001 a0001c0020 a0002c0003 a0003c0002 a0004c0004 a0005c0007 a0005c0009	a0001c0001t0001 a0001c0020t0001 a0002c0003t0002 others(5): Show a0001c0001t0001 a0001c0020t0001 a0002c0003t0002 a0003c0002t0002 a0003c0002t0004 a0004c0004t0005 a0005c0007t0003 a0005c0009t0007	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0077 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0101 a0001c0020t0001g0089 a0002c0003t0002g0202 a0003c0002t0002g0187 a0003c0002t0002g0200 a0003c0002t0004g0014 a0003c0002t0004g0025 a0003c0002t0004g0026 a0003c0002t0004g0041 a0003c0002t0004g0043 a0003c0002t0004g0044 a0003c0002t0004g0045 a0003c0002t0004g0115 a0003c0002t0004g0174 a0003c0002t0004g0177 a0003c0002t0004g0181 a0003c0002t0004g0182 a0003c0002t0004g0185 a0003c0002t0004g0190 a0003c0002t0004g0191 a0003c0002t0004g0192 a0003c0002t0004g0193 a0003c0002t0004g0196 a0003c0002t0004g0197 a0003c0002t0004g0198 a0003c0002t0004g0201 a0003c0002t0004g0205 a0003c0002t0004g0218 a0003c0002t0004g0248 a0004c0004t0005g0046 a0005c0007t0003g0042 a0005c0007t0003g0183 a0005c0007t0003g0194 a0005c0009t0007g0178 a0005c0009t0007g0195	53	424	0.1250	-170	c.-27 others(11): Show c.-2721_-2552del	RAB17	ENSG00000124839.13	transcript	ENST00000264601.8	protein_coding		2281		chr2	TogoVar
RPH3AL_chr17_207389_357807	242249	TTACCTTC others(163): Show TTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTG ATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATT GACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTAT TGACTACCTTCCTCTATTGAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	133	0.0075	-170	c.613 others(17): Show c.613+4692_613+4861del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	CCCCGAGT others(163): Show CCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	290	0.0035	-170	c.166 others(19): Show c.1662+1003_1663-1062del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SENP1_chr12_48037897_48111079	48056767	AACATATT others(163): Show AACATATTACATATTACATATATATTATTTAATATATTACATATTACATA TATAAATATATTTAACATATTACATATTACATATATATTATTTAATATAT TACATATTACATATATAATATATTATTTAATATATTACATATTACATATA TAATATATTATTTAATATATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG00735.hp1 others(5): Show HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0147 a0001c0002t0002g0148 others(4): Show a0001c0002t0002g0003 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0190	8	394	0.0203	-170	c.140 others(19): Show c.1407+6773_1407+6942del	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SHC2_chr19_411589_466033	431490	CAGATGGC others(163): Show CAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCGGGGCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02572.hp1 others(9): Show HG01891.hp2 HG02145.hp1 HG02572.hp1 HG02622.hp2 HG02818.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03579.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0007 others(3): Show a0001c0001 a0001c0005 a0001c0007 a0001c0013 a0001c0018 a0003c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0005t0015 a0001c0007t0003 a0001c0007t0006 a0001c0013t0005 a0001c0018t0006 a0003c0008t0003 a0003c0008t0006	a0001c0001t0003g0171 a0001c0001t0005g0168 a0001c0001t0006g0043 others(9): Show a0001c0001t0003g0171 a0001c0001t0005g0168 a0001c0001t0006g0043 a0001c0001t0006g0049 a0001c0001t0016g0070 a0001c0005t0015g0008 a0001c0007t0003g0030 a0001c0007t0006g0042 a0001c0013t0005g0007 a0001c0018t0006g0179 a0003c0008t0003g0183 a0003c0008t0006g0185	12	212	0.0566	-170	c.111 others(17): Show c.1111-913_1111-744del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432758	TAGATGGC others(163): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCGGGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	212	0.0047	-170	c.111 others(19): Show c.1110+1781_1110+1950del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432924	CGGGCAGA others(163): Show CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0001 a0001	a0001c0013 a0001c0018 a0001c0013 a0001c0018	a0001c0013t0005 a0001c0018t0006 a0001c0013t0005 a0001c0018t0006	a0001c0013t0005g0007 a0001c0018t0006g0179 a0001c0013t0005g0007 a0001c0018t0006g0179	2	212	0.0094	-170	c.111 others(19): Show c.1110+1615_1110+1784del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433473	CGTGAGTG others(163): Show CGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCAT CGTGAGTGAGATAGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGG CGCTTCATCGTGAGTGAGATA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0053	1	212	0.0047	-170	c.111 others(19): Show c.1110+1066_1110+1235del	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SIGIRR_chr11_400716_419999	400949	GGCCCCGC others(163): Show GGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACC CCGCTCACCCCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCA CACCCGGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00621.hp1 others(56): Show HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01358.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02109.hp1 HG02132.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp2 HG03654.hp1 HG03704.hp2 HG03927.hp1 HG04204.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0003 a0003c0007 others(1): Show a0001c0001 a0001c0003 a0003c0007 a0006c0011	a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0003c0007t0001 a0006c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 others(56): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0119 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0003t0001g0231 a0001c0003t0001g0232 a0003c0007t0001g0199 a0006c0011t0001g0190	59	242	0.2438	-170	c.47 others(11): Show c.4777_*4946del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4766		chr11	TogoVar
SIGIRR_chr11_400716_419999	400961	ACCCGCCC others(163): Show ACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCG GACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCCGCC CCGCTCACCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	242	0.0041	-170	c.47 others(11): Show c.4765_*4934del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4754		chr11	TogoVar
SKI_chr1_2223319_2315213	2280711	CGGCGGCG others(163): Show CGGCGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGA GAGAGGACGCCCGAGAAGACA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	330	0.0061	-170	c.970 others(19): Show c.970-22256_970-22087del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281420	GAGAGAGG others(163): Show GAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCC GAGAGGACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGA CAGGCGGTGGCGGAGATCTTC	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	330	0.0030	-170	c.970 others(19): Show c.970-21551_970-21382del	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC39A8_chr4_102256666_102350482	102320433	TATGAGAA others(163): Show TATGAGAATATATATATGAGAGTATATATACATATGAGAATATATATATG AGAGTATATATATATGAGAATATATATATGAGAGTATATATATATGAGAA TATATATATGAGAGTATATATATATGAGAATATATATATGAGAGTATATA TATATGAGAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	266	0.0038	-170	c.220 others(17): Show c.220-4773_220-4604del	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLIT2_chr4_20246905_20625561	20472235	GATCTATA others(163): Show GATCTATATATCTATATATAGATCTATATATAGATATATATCTATATATA TAGATATATAGATATATAGATCTATATATAGATATATATATCTATATATA GATCTATATATAGATATAGATATCTATATAGATATCTATATCTATATATA TGTAGATATATAGATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0086 a0001c0023t0001g0086	1	230	0.0044	-170	c.467 others(17): Show c.467+4432_467+4601del	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLX9_chr21_44935029_44981973	44981532	TGGGCCCT others(163): Show TGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGG CCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGAC AGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACG GGGGACAGCGGGGCCCGGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01496.hp1 HG01516.hp2 others(5): Show HG01346.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01993.hp1 HG03098.hp1 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0087 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0087 a0001c0001t0001g0102 a0001c0001t0001g0125 a0004c0004t0001g0224	8	334	0.0240	-170	c.47 others(11): Show c.4730_*4899del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4560		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981584	CGGACGGG others(163): Show CGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAG CGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCACGGG GGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGT TCAGAGGGGACAGCGGGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02897.hp1 HG03471.hp2 others(2): Show HG00558.hp1 HG02897.hp1 HG03471.hp2 HG04204.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0174	5	334	0.0150	-170	c.47 others(11): Show c.4782_*4951del	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4612		chr21	TogoVar
SMYD3_chr1_245744347_246512279	246071840	TTAGTTCT others(163): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTCGCTG CATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCATCGTG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0072 a0004c0013t0002g0072	1	150	0.0067	-170	c.532 others(21): Show c.532-142073_532-141904del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX8_chr7_2246770_2319441	2278982	CGCCGGAC others(163): Show CGCCGGACTCACACTACGGAGTCGACGCCGGACTCACTCACACTACGGAG TCGAAGCCGGACTCACTCACACTACGGAGTCGACGCCGGACTCACTCACA CTACGGAGTCGAAGCCGGACTCACTCACACTACGGAGTCGACGCCGGACT CACTCACACTACGGAGTCGAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02622.hp1 others(1): Show HG01109.hp1 HG02280.hp2 HG02622.hp1 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0008 a0002c0004t0008 a0001c0001t0005 a0001c0001t0008 a0002c0004t0008	a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 others(1): Show a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0008g0270 a0002c0004t0008g0361	4	370	0.0108	-170	c.95- others(13): Show c.95-847_95-678del	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	1/10			chr7	TogoVar
SPATA6_chr1_48290373_48477204	48382473	ACCTCCCT others(163): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC CGGCCGGAAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGACCCCCCCCCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG01168.hp1 others(7): Show HG00140.hp2 HG01081.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG02280.hp1 HG02683.hp2 HG04184.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 others(7): Show a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0166 a0001c0001t0006g0234	10	322	0.0311	-170	c.909 others(17): Show c.909+2666_909+2835del	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48383219	GGGCAGAG others(163): Show GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGACCGCCCCCCCGCCACCTCCCT CCCGGATGGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18989.hp2 NA19004.hp1 others(1): Show NA18969.hp1 NA18989.hp2 NA19004.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0036 others(1): Show a0001c0001t0007 a0001c0001t0016 a0001c0001t0036 a0001c0001t0038	a0001c0001t0007g0313 a0001c0001t0016g0306 a0001c0001t0036g0311 others(1): Show a0001c0001t0007g0313 a0001c0001t0016g0306 a0001c0001t0036g0311 a0001c0001t0038g0305	4	322	0.0124	-170	c.909 others(17): Show c.909+1920_909+2089del	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
STAU2_chr8_73415369_73751840	73622056	TCGCCATT others(163): Show TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	240	0.0042	-170	c.411 others(17): Show c.411-4775_411-4606del	STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	6/14			chr8	TogoVar
STK19_chr6_31967363_31986446	31977283	TGCCTCAG others(163): Show TGCCTCAGCCTCCCAAGTAGCTGGCATTACAGGCACCTGACACCACGCCC AGCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCA CCCAGGCTGGAGTTCAGTGGCATGATCTTGGCTTACTGCAAGCTCTGCCT CCTGGGTTCACCCATTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	433	0.0023	-170	c.238 others(17): Show c.238-1606_238-1437del	STK19	ENSG00000204344.16	transcript	ENST00000685781.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
STX2_chr12_130784600_130844250	130835381	ACAGCTAC others(163): Show ACAGCTACTGTGTATTTATTGTTTATTATCATGCAAACAATTCCCACAGA TGAAATGTGTGGTTTCTCTATTCTTCACTATAATAAATAGATATATCATA TATATGTATCAAATATAAATACATCAATGTTCATAAACTTTTTTTAAAAA GTAATCAAAATACGTTTGGGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0061 a0003c0003t0003g0061	1	380	0.0026	-170	c.30+ others(15): Show c.30+3519_30+3688del	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	1/10			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474722	AGATGAGG others(163): Show AGATGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGA GTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTGAGTGAGGGGGTG AAGGGGTGAGTGAGGGGGTGAGTGAGGGGGTGAAGGGGTGAGTGAGGGGG TGAGGGGGTGGGTGAGGGGTG	A A	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0306 a0001c0001t0017g0306	1	382	0.0026	-170	c.728 others(17): Show c.728-1396_728-1227del	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNMD_chrX_100579936_100604885	100601705	TCACCAAA others(163): Show TCACCAAAGTCCATTCTGTATTTTTTTTTTTTTTTGAGACGGAGTCTTCC TTTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGC TCCGCCTCCCGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GCGACTACAGGTGCCTGCCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	328	0.0061	-170	c.19 others(11): Show c.1989_*2158del	TNMD	ENSG00000000005.6	transcript	ENST00000373031.5	protein_coding		1821		chrX	TogoVar
TUBGCP2_chr10_133273635_133313872	133291729	CTCCGTGT others(163): Show CTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCACGCGCCCTCCGTGTCCCCCATGTCCCTCCGT GTCCCCCATGTCCCTCCGTGTCCCTGTGTCCCGGGGAGCCCTACCTGTAC GGGAGAGGGCAGCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0075 a0002c0003t0002g0075	1	284	0.0035	-170	c.121 others(17): Show c.1214+600_1214+769del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292041	CCCTCCGT others(163): Show CCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGG GAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGT GTCCCTCCGTGTCCCCCATGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0082 a0002c0003t0002g0082	1	284	0.0035	-170	c.121 others(17): Show c.1214+288_1214+457del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar

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Search Results (Total: 10000 hits)