Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SH2D4A_chr8_19308693_19401218	19373455	T T	TATATATA others(19): Show TATATATATATATATATACACACACCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0005 a0002c0014t0005	a0002c0014t0005g0219 a0002c0014t0005g0219	1	354	0.0028	26	c.918 others(39): Show c.918-65_918-64insATATATACACACACCCATATATATAT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282328	A A	AGGGACTG others(19): Show AGGGACTGGGGCCGGGGACCGGGACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	26	c.12 others(37): Show c.1205_*1206insGGGACTGGGGCCGGGGACCGGGACCG	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		807		chr1	TogoVar
SH3BP2_chr4_2788085_2846096	2825477	C C	CACACACA others(19): Show CACACACACACAGCAACACGTGGACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0135 a0001c0003t0088g0135	1	378	0.0027	26	c.428 others(41): Show c.428+281_428+282insACACACACACAGCAACACGTGGACAT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	5/12			chr4	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0156 a0001c0002t0009g0156	1	376	0.0027	26	c.496 others(43): Show c.496-3249_496-3224dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320605	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01981.hp1 NA18952.hp1 others(1): Show HG00423.hp1 HG01981.hp1 NA18952.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0279 a0001c0001t0001g0290 others(1): Show a0001c0001t0001g0238 a0001c0001t0001g0279 a0001c0001t0001g0290 a0001c0001t0001g0307	4	376	0.0106	26	c.201 others(43): Show c.201+9873_201+9898dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320640	A A	ACACACAC others(19): Show ACACACACACACACACACACACACGCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0161 a0002c0004t0001g0161	1	376	0.0027	26	c.201 others(43): Show c.201+9863_201+9864insAGCGTGTGTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3D21_chr1_36301368_36326347	36302436	A A	AAGCTGCT others(19): Show AAGCTGCTTTGAGGCTACTAGAGGACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	26	c.-39 others(37): Show c.-3985_-3984insAGCTGCTTTGAGGCTACTAGAGGACC	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding		3931		chr1	TogoVar
SH3D21_chr1_36301368_36326347	36313967	A A	ATTTTTCT others(19): Show ATTTTTCTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	376	0.0027	26	c.769 others(43): Show c.769+4381_769+4382insTCTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3D21_chr1_36301368_36326347	36313972	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01071.hp1 HG01109.hp1 others(8): Show HG00621.hp2 HG01071.hp1 HG01109.hp1 HG02602.hp2 HG03491.hp2 HG03654.hp2 NA18978.hp2 NA19007.hp2 NA19011.hp2 NA19068.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0150 a0001c0001t0001g0156 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0002t0001g0050 a0001c0002t0001g0121 a0001c0002t0001g0177 a0001c0002t0001g0203 a0001c0002t0001g0215	11	376	0.0293	26	c.769 others(43): Show c.769+4402_769+4403insTTTTTTTTTTTTTTTTTTTTTTTTTT	SH3D21	ENSG00000214193.11	transcript	ENST00000453908.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GL1_chr19_4355370_4405547	4364866	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	358	0.0028	26	c.331 others(41): Show c.331+590_331+615dupCACACACACACACACACACACACACA	SH3GL1	ENSG00000141985.9	transcript	ENST00000269886.7	protein_coding	4/9			chr19	TogoVar
SH3GLB1_chr1_86699576_86753184	86724890	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	318	0.0031	26	c.570 others(41): Show c.570+486_570+487insTATATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	318	0.0031	26	c.570 others(41): Show c.570+488_570+489insAAAAAATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3GLB1_chr1_86699576_86753184	86724892	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	318	0.0031	26	c.570 others(41): Show c.570+508_570+509insTATATATATATATATATATATATATA	SH3GLB1	ENSG00000097033.15	transcript	ENST00000370558.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19531524	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01891.hp1 HG01071.hp2 HG01109.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0059 a0001c0001t0001g0195 a0001c0001t0001g0198	3	204	0.0147	26	c.48 others(37): Show c.4892_*4893insAAAAAAAAAAAAAAAAAAAAAAAAAA	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding		2452		chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19760041	C C	CCTCTCCC others(19): Show CCTCTCCCTCTCCCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	204	0.0049	26	c.163 others(45): Show c.163-13601_163-13600insAGAGAGAGGGAGAGGGAGAGGGAGAG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
SH3KBP1_chrX_19528977_19892600	19873286	A A	ACGTATAT others(19): Show ACGTATATATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	204	0.0049	26	c.4+1 others(41): Show c.4+14020_4+14021insCGTATATATATATATATATATATACG	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(19): Show ACACACACACACACACACACACTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 NA18975.hp2 NA19060.hp1 HG03098.hp2 NA18975.hp2 NA19060.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0003 a0004c0011 a0013c0025 a0001c0003 a0004c0011 a0013c0025	a0001c0003t0034 a0004c0011t0111 a0013c0025t0034 a0001c0003t0034 a0004c0011t0111 a0013c0025t0034	a0001c0003t0034g0052 a0004c0011t0111g0223 a0013c0025t0034g0034 a0001c0003t0034g0052 a0004c0011t0111g0223 a0013c0025t0034g0034	3	250	0.0120	26	c.51 others(37): Show c.5152_*5153insAGAGAGTGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596663	A A	ACACACAC others(19): Show ACACACACACACACACACACTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 NA18979.hp1 HG03471.hp1 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0011 a0001c0003 a0004c0011	a0001c0003t0094 a0004c0011t0108 a0001c0003t0094 a0004c0011t0108	a0001c0003t0094g0182 a0004c0011t0108g0222 a0001c0003t0094g0182 a0004c0011t0108g0222	2	250	0.0080	26	c.51 others(37): Show c.5152_*5153insAGAGAGAGTGTGTGTGTGTGTGTGTG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5152		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103596685	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCTCTCTCTCTCTCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0084 a0001c0002t0074g0084	1	250	0.0040	26	c.51 others(37): Show c.5130_*5131insTGAGAGAGAGAGAGAGAGAGAGAGAG	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	15/15	5130		chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103608150	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAGTTTACAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0123 a0003c0020t0001g0123	1	250	0.0040	26	c.130 others(45): Show c.1309-2234_1309-2233insTTGTAAACTTTTTTTTTTTTTTTTTT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	13/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103702596	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01981.hp1 HG02165.hp1 others(8): Show HG00597.hp2 HG01981.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 NA18975.hp2 NA19002.hp1 NA19010.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006 a0013c0025	a0001c0001t0021 a0001c0001t0023 a0001c0002t0077 others(7): Show a0001c0001t0021 a0001c0001t0023 a0001c0002t0077 a0001c0003t0033 a0001c0003t0058 a0001c0003t0065 a0001c0003t0080 a0001c0003t0105 a0002c0006t0004 a0013c0025t0034	a0001c0001t0021g0206 a0001c0001t0023g0099 a0001c0002t0077g0043 others(8): Show a0001c0001t0021g0206 a0001c0001t0023g0099 a0001c0002t0077g0043 a0001c0003t0033g0067 a0001c0003t0033g0085 a0001c0003t0058g0066 a0001c0003t0065g0025 a0001c0003t0080g0086 a0001c0003t0105g0211 a0002c0006t0004g0044 a0013c0025t0034g0034	11	250	0.0440	26	c.399 others(43): Show c.399-9541_399-9540insACACACACACACACACACACACACAC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14			chr10	TogoVar
SH3PXD2A_chr10_103589027_103860576	103801542	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp2 HG03041.hp2 HG02630.hp1 HG02630.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0042 a0001c0002t0026 a0001c0001t0014 a0001c0001t0042 a0001c0002t0026	a0001c0001t0014g0101 a0001c0001t0042g0097 a0001c0002t0026g0214 a0001c0001t0014g0101 a0001c0001t0042g0097 a0001c0002t0026g0214	3	250	0.0120	26	c.73- others(39): Show c.73-181_73-180insGTGTGTGTGTGTGTGTGTGTGTGTGT	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368498	A A	ATATATAT others(19): Show ATATATATATATAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18522.hp2 HG02970.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0082 a0001c0001t0078 a0001c0001t0082	a0001c0001t0078g0215 a0001c0001t0082g0211 a0001c0001t0078g0215 a0001c0001t0082g0211	2	280	0.0071	26	c.427 others(43): Show c.427+5291_427+5292insATATATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368596	T T	TTATATAT others(19): Show TTATATATATATAATATATATGTTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0006 a0001c0001t0030g0006	1	280	0.0036	26	c.427 others(43): Show c.427+5193_427+5194insTATAACATATATATTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3PXD2B_chr5_172328499_172459525	172368686	T T	TTATATAT others(19): Show TTATATATATATAAAATATATATGTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	280	0.0036	26	c.427 others(43): Show c.427+5103_427+5104insTAACATATATATTTTATATATATATA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	6/12			chr5	TogoVar
SH3RF1_chr4_169089259_169275956	169178281	T T	TAAATAAG others(19): Show TAAATAAGCAACTATGCTTATTTAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00741.hp1 others(36): Show HG00099.hp1 HG00280.hp2 HG00741.hp1 HG01109.hp1 HG01192.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02056.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02698.hp1 HG02738.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1 NA18943.hp2 NA18954.hp1 NA18971.hp1 NA18981.hp1 NA18986.hp1 NA19058.hp2 NA19068.hp1 NA19084.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0003c0016 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 a0001c0002t0017 a0002c0003t0001 a0002c0003t0004 a0002c0003t0006 a0002c0003t0028 a0003c0005t0010 a0003c0016t0002 a0006c0009t0004	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0163 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0208 a0001c0001t0003g0018 a0001c0001t0005g0162 a0001c0001t0014g0067 a0001c0002t0003g0082 a0001c0002t0003g0083 a0001c0002t0004g0159 a0001c0002t0006g0002 a0001c0002t0006g0160 a0001c0002t0006g0167 a0001c0002t0009g0187 a0001c0002t0009g0188 a0001c0002t0016g0184 a0001c0002t0017g0171 a0002c0003t0001g0203 a0002c0003t0004g0001 a0002c0003t0004g0063 a0002c0003t0004g0168 a0002c0003t0004g0194 a0002c0003t0004g0195 a0002c0003t0004g0202 a0002c0003t0004g0204 a0002c0003t0004g0206 a0002c0003t0004g0210 a0002c0003t0006g0197 a0002c0003t0028g0201 a0003c0005t0010g0022 a0003c0016t0002g0151 a0006c0009t0004g0209	39	216	0.1806	26	c.394 others(45): Show c.394-21628_394-21603dupTTTTAAATAAGCATAGTTGCTTATTT	SH3RF1	ENSG00000154447.15	transcript	ENST00000284637.14	protein_coding	2/11			chr4	TogoVar
SH3RF3_chr2_109124205_109509634	109249532	T T	TTTCTTTT others(19): Show TTTCTTTTTCTTTCTTTCTTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0110 a0001c0005t0017g0111 a0001c0005t0017g0110 a0001c0005t0017g0111	2	172	0.0116	26	c.574 others(45): Show c.574-98139_574-98138insTTTTTCTTTCTTTCTTTCCTTCCTTC	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3RF3_chr2_109124205_109509634	109458572	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02055.hp2 HG02647.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0056 a0002c0002t0004	a0001c0001t0002g0088 a0001c0001t0003g0134 a0001c0001t0009g0147 others(3): Show a0001c0001t0002g0088 a0001c0001t0003g0134 a0001c0001t0009g0147 a0001c0001t0022g0149 a0001c0001t0056g0153 a0002c0002t0004g0160	6	172	0.0349	26	c.214 others(45): Show c.2148+9087_2148+9112dupGAGAGAGAGAGAGAGAGAGAGAGAGA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8237419	A A	ATGCCTGC others(19): Show ATGCCTGCTCCTGAGGGGCCTGTGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02056.hp2 others(13): Show HG01109.hp1 HG01891.hp1 HG02056.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03453.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 NA18954.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0020	a0001c0001 a0001c0002 a0001c0033 others(8): Show a0001c0001 a0001c0002 a0001c0033 a0001c0036 a0001c0038 a0001c0047 a0001c0088 a0001c0095 a0002c0006 a0006c0032 a0020c0079	a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0033t0001 a0001c0036t0001 a0001c0036t0003 a0001c0038t0003 a0001c0047t0001 a0001c0088t0003 a0001c0095t0003 a0002c0006t0001 a0006c0032t0001 a0006c0032t0002 a0020c0079t0001	a0001c0001t0001g0232 a0001c0001t0001g0355 a0001c0002t0001g0217 others(13): Show a0001c0001t0001g0232 a0001c0001t0001g0355 a0001c0002t0001g0217 a0001c0033t0001g0105 a0001c0033t0001g0327 a0001c0036t0001g0122 a0001c0036t0003g0123 a0001c0038t0003g0357 a0001c0038t0003g0359 a0001c0047t0001g0320 a0001c0088t0003g0331 a0001c0095t0003g0074 a0002c0006t0001g0206 a0006c0032t0001g0013 a0006c0032t0002g0014 a0020c0079t0001g0109	16	374	0.0428	26	c.355 others(41): Show c.3557-48_3557-47insTCCTGAGGGGCCTGTGCCCTGCCTGC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50665737	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01243.hp1 others(8): Show HG00642.hp2 HG01081.hp1 HG01243.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02717.hp1 HG03098.hp1 HG03492.hp1 HG03516.hp2 HG03831.hp2	a0001 a0021 a0028 others(1): Show a0001 a0021 a0028 a0033	a0001c0003 a0001c0004 a0001c0008 others(3): Show a0001c0003 a0001c0004 a0001c0008 a0021c0029 a0028c0038 a0033c0027	a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 others(6): Show a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0110 a0001c0004t0008 a0001c0008t0001 a0021c0029t0012 a0028c0038t0004 a0033c0027t0010	a0001c0003t0004g0097 a0001c0003t0004g0098 a0001c0003t0004g0191 others(8): Show a0001c0003t0004g0097 a0001c0003t0004g0098 a0001c0003t0004g0191 a0001c0003t0006g0152 a0001c0003t0007g0074 a0001c0003t0110g0313 a0001c0004t0008g0062 a0001c0008t0001g0285 a0021c0029t0012g0085 a0028c0038t0004g0282 a0033c0027t0010g0158	11	316	0.0348	26	c.576 others(43): Show c.5768+454_5768+455insTTTTTTTTTTTTTTTTTTTTTTTTTT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	23/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp1 HG03710.hp1 others(1): Show HG02258.hp1 HG03225.hp1 HG03710.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0012 a0002c0001 a0001c0003 a0001c0012 a0002c0001	a0001c0003t0102 a0001c0012t0024 a0002c0001t0054 a0001c0003t0102 a0001c0012t0024 a0002c0001t0054	a0001c0003t0102g0303 a0001c0012t0024g0122 a0001c0012t0024g0136 others(1): Show a0001c0003t0102g0303 a0001c0012t0024g0122 a0001c0012t0024g0136 a0002c0001t0054g0031	4	316	0.0127	26	c.196 others(45): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHARPIN_chr8_144093637_144108773	144107619	C C	CCTGATGC others(19): Show CCTGATGCGGTGTGGGGGTGGGGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00735.hp2 others(7): Show HG00099.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01123.hp2 HG01496.hp2 HG03453.hp1 HG04199.hp1 NA19076.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0001 a0007c0017t0001 a0001c0002t0001 a0007c0017t0001	a0001c0002t0001g0004 a0001c0002t0001g0017 a0007c0017t0001g0069 a0001c0002t0001g0004 a0001c0002t0001g0017 a0007c0017t0001g0069	10	334	0.0299	26	c.-38 others(37): Show c.-3892_-3867dupCAGGCCCCACCCCCACACCGCATCAG	SHARPIN	ENSG00000179526.17	transcript	ENST00000398712.7	protein_coding		3847		chr8	TogoVar
SHC4_chr15_48818741_48968919	48897756	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	384	0.0026	26	c.657 others(43): Show c.657-6971_657-6946dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHC4_chr15_48818741_48968919	48919295	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01109.hp1 HG01361.hp2 others(5): Show HG00438.hp1 HG01109.hp1 HG01361.hp2 HG02055.hp1 HG02258.hp2 NA18943.hp2 NA19010.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0366 others(5): Show a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0001g0366 a0001c0001t0001g0373 a0001c0001t0002g0035 a0001c0001t0004g0038 a0001c0001t0023g0151 a0001c0001t0024g0026	8	384	0.0208	26	c.656 others(43): Show c.656+5583_656+5584insAAAAAAAAAAAAAAAAAAAAAAAAAA	SHC4	ENSG00000185634.12	transcript	ENST00000332408.9	protein_coding	2/11			chr15	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	G G	GAAAGGAA others(19): Show GAAAGGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	302	0.0033	26	c.118 others(45): Show c.1182+4945_1182+4946insTCTTTCTTTCTTTCTTTCTTTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182924976	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	302	0.0033	26	c.118 others(45): Show c.1182+4670_1182+4671insCTTTCTTTCTTTCTTTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA6_chr17_11236213_11569063	11277280	T T	TCTCTCTC others(19): Show TCTCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0007 a0001c0001t0030g0007	1	192	0.0052	26	c.799 others(45): Show c.799+13755_799+13756insTCTCTCTCTCACACACACACACACAC	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12970393	A A	ATATATAT others(19): Show ATATATATACATATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0185 a0001c0002t0006g0185	1	214	0.0047	26	c.691 others(45): Show c.691+53586_691+53587insCATATATATACATATATGTATATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12970395	A A	ATATATAC others(19): Show ATATATACATATATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0184 a0001c0002t0009g0184	1	214	0.0047	26	c.691 others(45): Show c.691+53586_691+53587insCATATATATATACATATATGTATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015890	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03017.hp2 NA20129.hp1 HG01255.hp2 HG03017.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0001t0094 a0001c0003t0008 a0001c0001t0025 a0001c0001t0094 a0001c0003t0008	a0001c0001t0025g0010 a0001c0001t0094g0101 a0001c0003t0008g0002 a0001c0001t0025g0010 a0001c0001t0094g0101 a0001c0003t0008g0002	3	214	0.0140	26	c.691 others(45): Show c.691+99094_691+99095insCTTTCTTTTTCTTTCTTTCTTTCTTT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13198202	A A	ATGTGTGT others(19): Show ATGTGTGTATATGCATACATATATACT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	214	0.0047	26	c.692 others(43): Show c.692-5058_692-5033dupGTGTATATGCATACATATATACTTGT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44241646	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	380	0.0026	26	c.80 others(37): Show c.8038_*8039insAAAAAAAAAAAAAAAAAAAAAAAAAA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding		2018		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02080.hp2 HG03516.hp1 others(1): Show HG01109.hp2 HG02080.hp2 HG03516.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0090 a0001c0002t0009 others(1): Show a0001c0001t0033 a0001c0001t0090 a0001c0002t0009 a0001c0002t0014	a0001c0001t0033g0330 a0001c0001t0090g0104 a0001c0002t0009g0327 others(1): Show a0001c0001t0033g0330 a0001c0001t0090g0104 a0001c0002t0009g0327 a0001c0002t0014g0048	4	380	0.0105	26	c.600 others(45): Show c.600-11393_600-11392insTATATATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44266528	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02738.hp1 NA18952.hp1 HG01109.hp1 HG02738.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0162 a0001c0001t0004g0222 a0001c0001t0005g0293 a0001c0001t0002g0162 a0001c0001t0004g0222 a0001c0001t0005g0293	3	380	0.0079	26	c.600 others(45): Show c.600-16869_600-16844dupCACACACACACACACACACACACACA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHLD1_chr20_5745401_5869395	5764158	T T	TTATATAT others(19): Show TTATATATATATATATATATTTTTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02723.hp2 others(5): Show HG02055.hp1 HG02145.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0001t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 others(5): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0256 a0001c0002t0002g0274 a0001c0002t0005g0038 a0001c0002t0005g0311	8	328	0.0244	26	c.-4- others(41): Show c.-4-8687_-4-8686insATTTTTATATATATATATATATATAT	SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
SHOC1_chr9_111681171_111799937	111793622	A A	ATGGTTAG others(19): Show ATGGTTAGAGAGAGGGTAATTTAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00642.hp2 others(29): Show HG00140.hp1 HG00408.hp2 HG00642.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01891.hp2 HG02055.hp1 HG02280.hp1 HG02300.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp2 HG03834.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0003 a0008 a0016 others(1): Show a0003 a0008 a0016 a0018	a0003c0003 a0008c0009 a0016c0030 others(1): Show a0003c0003 a0008c0009 a0016c0030 a0018c0016	a0003c0003t0002 a0008c0009t0001 a0016c0030t0002 others(1): Show a0003c0003t0002 a0008c0009t0001 a0016c0030t0002 a0018c0016t0002	a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 others(28): Show a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0090 a0003c0003t0002g0091 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0099 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0111 a0008c0009t0001g0084 a0008c0009t0001g0100 a0008c0009t0001g0101 a0008c0009t0001g0102 a0008c0009t0001g0103 a0008c0009t0001g0104 a0008c0009t0001g0107 a0016c0030t0002g0089 a0018c0016t0002g0081	32	296	0.1081	26	c.-37 others(43): Show c.-37+1252_-37+1277dupATTTTAAATTACCCTCTCTCTAACCA	SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27			chr9	TogoVar
SHOX2_chr3_158090905_158111420	158106571	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 NA18968.hp1 HG02886.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0055 a0001c0001t0040 a0001c0001t0055	a0001c0001t0040g0041 a0001c0001t0055g0035 a0001c0001t0040g0041 a0001c0001t0055g0035	2	380	0.0053	26	c.-57 others(35): Show c.-573_-548dupCTCTCTCTCTCTCTCTCTCTCTCTCT	SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding		152		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72751508	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	222	0.0045	26	c.118 others(43): Show c.1182-673_1182-672insTATATATATATACACACACACACACA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHQ1_chr3_72744277_72853445	72765530	C C	CATACATA others(19): Show CATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0208 a0007c0007t0001g0208	1	222	0.0045	26	c.118 others(47): Show c.1182-14695_1182-14694insATATATATATATATATATATATGT AT	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding	10/10			chr3	TogoVar
SHROOM3_chr4_76430229_76788253	76646225	A A	AATAAATA others(19): Show AATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19043.hp1 NA20129.hp1 HG03540.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0036 a0002c0003 a0004c0004 a0001c0036 a0002c0003 a0004c0004	a0001c0036t0002 a0002c0003t0001 a0004c0004t0001 a0001c0036t0002 a0002c0003t0001 a0004c0004t0001	a0001c0036t0002g0032 a0002c0003t0001g0196 a0004c0004t0001g0131 a0001c0036t0002g0032 a0002c0003t0001g0196 a0004c0004t0001g0131	3	218	0.0138	26	c.324 others(45): Show c.324-63928_324-63927insAATATATATATATATATATATATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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