Joint Open Genome and Omics Platform (JoGo)

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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
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(41): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	360	0.0028	48	c.43 others(59): Show c.4386_*4387insGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(41): Show TGGGCTGCTCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18953.hp2 NA18971.hp1 others(3): Show HG00438.hp2 NA18953.hp2 NA18971.hp1 NA18984.hp1 NA19007.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0042 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0123 a0001c0001t0001g0182 a0001c0001t0001g0183	6	360	0.0167	48	c.43 others(59): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGAGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp1 NA19043.hp2 HG01884.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0008t0001g0193 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0008t0001g0193	3	360	0.0083	48	c.43 others(59): Show c.4353_*4354insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214481	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 NA19003.hp2 HG01167.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0178 a0001c0001t0001g0122 a0001c0001t0001g0178	2	360	0.0056	48	c.43 others(59): Show c.4329_*4330insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3662		chr2	TogoVar
SH3YL1_chr2_213144_269032	214481	C C	CCTGCGAA others(41): Show CCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	360	0.0028	48	c.43 others(59): Show c.4329_*4330insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3662		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA19030.hp1 HG03209.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0207 a0001c0002t0002g0208	2	360	0.0056	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCCAA others(41): Show CCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG04204.hp1 HG00642.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0128 a0001c0002t0002g0247 a0001c0001t0004g0128 a0001c0002t0002g0247	2	360	0.0056	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214505	C C	CCTGCGAA others(41): Show CCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18995.hp1 HG01255.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0180 a0001c0001t0001g0163 a0001c0001t0001g0180	2	360	0.0056	48	c.43 others(59): Show c.4305_*4306insAAGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3638		chr2	TogoVar
SH3YL1_chr2_213144_269032	214510	C C	CAACAGGC others(41): Show CAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01074.hp1 HG01346.hp1 others(17): Show HG00673.hp1 HG01074.hp1 HG01346.hp1 HG01515.hp1 HG01952.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02165.hp2 HG02523.hp1 HG03834.hp1 HG03834.hp2 NA18940.hp1 NA18955.hp2 NA18963.hp2 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064	20	360	0.0556	48	c.43 others(59): Show c.4300_*4301insCGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTT	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3633		chr2	TogoVar
SH3YL1_chr2_213144_269032	214529	C C	CCTGCGAA others(41): Show CCTGCGAACAGGCACCGGGCTGCTTCTGCCAACAGGCACCGGGCTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19083.hp1 NA18964.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	360	0.0056	48	c.42 others(59): Show c.4281_*4282insAAGCAGCCCGGTGCCTGTTGGCAGAAGCAGCCCG GTGCCTGTTCGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3614		chr2	TogoVar
SH3YL1_chr2_213144_269032	214552	C C	CCCTGCCA others(41): Show CCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	360	0.0028	48	c.42 others(59): Show c.4258_*4259insAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGG TGCCTGTTGGCAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3591		chr2	TogoVar
SH3YL1_chr2_213144_269032	214552	C C	CCCTGCGA others(41): Show CCCTGCGAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02809.hp1 NA18944.hp1 others(4): Show HG02129.hp1 HG02809.hp1 NA18944.hp1 NA18949.hp1 NA18953.hp1 NA19004.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0129 a0001c0001t0001g0002 a0001c0001t0001g0056 a0001c0001t0001g0129	7	360	0.0194	48	c.42 others(59): Show c.4258_*4259insAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGG TGCCTGTTCGCAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3591		chr2	TogoVar
SHANK1_chr19_50654255_50724802	50692456	G G	GATATATA others(41): Show GATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0086 a0001c0003t0017g0086	1	316	0.0032	48	c.196 others(67): Show c.1965-3178_1965-3177insATATATATATATATATATATATATAT ATATATATATATATATATATAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	15/23			chr19	TogoVar
SHISA6_chr17_11236213_11569063	11287696	G G	GGGGAAGG others(41): Show GGGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGGGCAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	192	0.0052	48	c.799 others(67): Show c.799+24186_799+24187insAGGGAGGGAGGGAGGGAGGGGGCAGG GAGGGAGGGAAGGAAGGAAGGA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA9_chr16_12896598_13245416	12970408	T T	TATGTATA others(41): Show TATGTATATATATATACATATATATATACATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0121 a0001c0001t0034g0121	1	214	0.0047	48	c.691 others(67): Show c.691+53595_691+53596insGTATATATATATACATATATATATAC ATATATGTATATATATATACAT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13071557	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02280.hp1 others(5): Show HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG03041.hp2 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0031 a0001c0001t0034 others(5): Show a0001c0001t0002 a0001c0001t0031 a0001c0001t0034 a0001c0001t0058 a0001c0001t0061 a0001c0001t0063 a0001c0002t0006 a0001c0002t0009	a0001c0001t0002g0115 a0001c0001t0031g0082 a0001c0001t0034g0121 others(5): Show a0001c0001t0002g0115 a0001c0001t0031g0082 a0001c0001t0034g0121 a0001c0001t0058g0040 a0001c0001t0061g0073 a0001c0001t0063g0138 a0001c0002t0006g0185 a0001c0002t0009g0184	8	214	0.0374	48	c.692 others(69): Show c.692-131824_692-131823insTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTCCCTTCCTTCCTTCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL1_chr22_44238665_44317951	44261075	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	380	0.0026	48	c.600 others(67): Show c.600-11391_600-11390insTATATATATATATATATATATATATA TATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44261077	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0310 a0001c0001t0095g0310	1	380	0.0026	48	c.600 others(67): Show c.600-11393_600-11392insTATATATATATATATATATATATATA TATATATATATATATATATATA	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	4/4			chr22	TogoVar
SIAH3_chr13_45772242_45856753	45826372	G G	GTTGGGTA others(41): Show GTTGGGTAGGTGGATGGATGGATGGATGGTTGGATGGATGGATGGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(29): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02300.hp1 HG02683.hp2 HG03239.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18950.hp1 NA18974.hp2 NA18992.hp1 NA19068.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0058 a0001c0001t0066 a0001c0001t0097 a0001c0001t0104	a0001c0001t0001g0090 a0001c0001t0001g0256 a0001c0001t0001g0265 others(29): Show a0001c0001t0001g0090 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0003g0056 a0001c0001t0003g0248 a0001c0001t0003g0284 a0001c0001t0004g0092 a0001c0001t0004g0322 a0001c0001t0005g0075 a0001c0001t0005g0081 a0001c0001t0005g0087 a0001c0001t0005g0091 a0001c0001t0005g0267 a0001c0001t0005g0324 a0001c0001t0005g0333 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0007g0266 a0001c0001t0008g0055 a0001c0001t0008g0238 a0001c0001t0008g0339 a0001c0001t0010g0104 a0001c0001t0010g0259 a0001c0001t0058g0262 a0001c0001t0066g0127 a0001c0001t0097g0088 a0001c0001t0104g0086	32	364	0.0879	48	c.135 others(67): Show c.135+25122_135+25123insTCACCCATCCATCCATCCAACCATCC ATCCATCCATCCACCTACCCAA	SIAH3	ENSG00000215475.5	transcript	ENST00000400405.4	protein_coding	1/1			chr13	TogoVar
SIGIRR_chr11_400716_419999	402827	C C	CCGCCCCG others(41): Show CCGCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01975.hp1 HG02071.hp1 others(1): Show HG00609.hp2 HG01975.hp1 HG02071.hp1 NA18969.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0118 a0003c0005t0001g0016	4	242	0.0165	48	c.30 others(59): Show c.3068_*3069insCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCCG GGGTGAGCGGGGCG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2888		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCCGC others(41): Show GCCCCCGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0037 a0008c0013t0001g0037	1	242	0.0041	48	c.30 others(59): Show c.3067_*3068insTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGTCCC GGGGTGAGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCGCT others(41): Show GCCCCGCTCACCCCGGGACCCCGCTCACCCCGACCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02129.hp2 HG00735.hp1 HG01109.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0131 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0131	3	242	0.0124	48	c.30 others(59): Show c.3067_*3068insTCCGGGGTGAGCGGGGTCGGGGTGAGCGGGGTCC CGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCCGCT others(41): Show GCCCCGCTCACCCCGGGACCCGCTCACCCCCGACCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA19030.hp2 NA18986.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0061 a0001c0001t0001g0069	2	242	0.0083	48	c.30 others(59): Show c.3067_*3068insTCCGGGGTGAGCGGGGTCGGGGGTGAGCGGGTCC CGGGGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402828	G G	GCCCGCTC others(41): Show GCCCGCTCACCCCGGGGACCCGCTCACCCCGACCCCCGCTCACCCCGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	242	0.0041	48	c.30 others(59): Show c.3067_*3068insTCCGGGGTGAGCGGGGGTCGGGGTGAGCGGGTCC CCGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2887		chr11	TogoVar
SIGIRR_chr11_400716_419999	402837	A A	ACCCCGGG others(41): Show ACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCGGACCCCGCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01346.hp2 HG01928.hp1 others(4): Show HG00738.hp1 HG01346.hp2 HG01928.hp1 HG02257.hp2 HG02886.hp2 HG03834.hp1 NA18978.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0233 a0003c0005t0001g0042 a0003c0005t0001g0050	7	242	0.0289	48	c.30 others(59): Show c.3058_*3059insGTGAGCGGGGTCCGGGGTGAGCGGGGTCGGGGTG AGCGGGTCCCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2878		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCCGC others(41): Show CCCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01109.hp1 NA18971.hp1 others(1): Show HG00597.hp1 HG01109.hp1 NA18971.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0101	4	242	0.0165	48	c.28 others(59): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGTCCGGGGT GAGCGGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCCGC others(41): Show CCCCCCGCCCCGCTCCACCCGGACCCCGCTCACCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	242	0.0041	48	c.28 others(59): Show c.2880_*2881insTGTGAGTGGGGCGGGGGTGAGCGGGGTCCGGGTG GAGCGGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCCGC others(41): Show CCCCCCGCCCGCTCACCCCGGACCCCGCTCACCCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	242	0.0041	48	c.28 others(59): Show c.2880_*2881insTGTGAGTGGGGCGGGGGGTGAGCGGGGTCCGGGG TGAGCGGGCGGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCGCC others(41): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCACACCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	242	0.0041	48	c.28 others(59): Show c.2880_*2881insTGTGAGTGGGGCGGGGTGTGAGCGGGGTCCGGGG TGAGCGGGGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	C C	CCCCCGCC others(41): Show CCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCCCGCCCCACTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 NA18978.hp1 NA19080.hp2 HG00741.hp2 NA18978.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0012 a0001c0001t0001g0055 a0001c0001t0001g0066	3	242	0.0124	48	c.28 others(59): Show c.2880_*2881insTGTGAGTGGGGCGGGGGGTGAGCGGGGTCCGGGG TGAGCGGGGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	412323	C C	CGGGGAGG others(41): Show CGGGGAGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0225 a0004c0014t0001g0225	1	242	0.0041	48	c.-15 others(67): Show c.-153-2297_-153-2296insCGCCCGACTGTATCCAGACATGGTCA GAGCTGGGCACCCCCCCTCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SIK2_chr11_111597449_111735855	111628416	A A	ATCTTTCT others(41): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp1 homoSapiens_chm13v2.hp1 HG01109.hp1 HG01258.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0023 a0001c0001t0001 a0001c0001t0002 a0001c0001t0023	a0001c0001t0001g0093 a0001c0001t0002g0014 a0001c0001t0023g0015 a0001c0001t0001g0093 a0001c0001t0002g0014 a0001c0001t0023g0015	3	198	0.0152	48	c.316 others(65): Show c.316+8051_316+8052insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(41): Show TATATATATATATATATATATATATATACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG02896.hp2 others(2): Show HG01175.hp1 HG01884.hp2 HG02896.hp2 HG03139.hp2 NA18612.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0013	a0002c0003 a0003c0005 a0004c0006 others(1): Show a0002c0003 a0003c0005 a0004c0006 a0013c0019	a0002c0003t0007 a0002c0003t0009 a0003c0005t0005 others(2): Show a0002c0003t0007 a0002c0003t0009 a0003c0005t0005 a0004c0006t0008 a0013c0019t0007	a0002c0003t0007g0328 a0002c0003t0009g0309 a0003c0005t0005g0351 others(2): Show a0002c0003t0007g0328 a0002c0003t0009g0309 a0003c0005t0005g0351 a0004c0006t0008g0348 a0013c0019t0007g0317	5	366	0.0137	48	c.274 others(67): Show c.274-63183_274-63182insGTGTGTATATATATATATATGTATAT ATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	117020246	T T	TATATATA others(41): Show TATATATATATATATATATATATATATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0276 a0001c0001t0024g0276	1	366	0.0027	48	c.274 others(67): Show c.274-63183_274-63182insGTATATATATATATATATATGTATAT ATATATATATATATATATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	1/24			chr11	TogoVar
SIPA1L3_chr19_37902208_38213369	37968063	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18942.hp1 NA18979.hp2 others(2): Show HG04199.hp2 NA18942.hp1 NA18979.hp2 NA19009.hp2 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0017 a0001c0001 a0001c0003 a0005c0017	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0001c0003t0007 a0005c0017t0006	a0001c0001t0001g0005 a0001c0001t0005g0122 a0001c0003t0001g0151 others(2): Show a0001c0001t0001g0005 a0001c0001t0005g0122 a0001c0003t0001g0151 a0001c0003t0007g0120 a0005c0017t0006g0093	5	164	0.0305	48	c.-37 others(69): Show c.-379+60730_-379+60731insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT6_chr19_4169109_4187563	4180773	A A	ATCACAGA others(41): Show ATCACAGACCTGAAGTCGGGGATGCCAGAGGCAGTGCTGATGCCGGCAC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	410	0.0024	48	c.155 others(57): Show c.155_194+8dupGTGCCGGCATCAGCACTGCCTCTGGCATCCCCGACT TCAGGTCTGTGA	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding	2/7			chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	C C	CCAGCAGC others(41): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	414	0.0024	48	c.-14 others(59): Show c.-1408_-1361dupCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0226 a0004c0007t0001g0226	1	292	0.0034	48	c.46+ others(65): Show c.46+16551_46+16552insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(41): Show TACATACATACATATACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02080.hp1 others(2): Show HG01891.hp1 HG01943.hp1 HG02080.hp1 HG03491.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0194 a0001c0001t0001g0251 a0001c0001t0001g0252 others(2): Show a0001c0001t0001g0194 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0345 a0001c0001t0002g0063	5	360	0.0139	48	c.47 others(59): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLC10A5_chr8_81688631_81700058	81688664	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG06807.hp1 HG02486.hp1 HG06807.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	2	426	0.0047	48	c.49 others(59): Show c.4991_*4992insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	SLC10A5	ENSG00000253598.3	transcript	ENST00000518568.3	protein_coding		4966		chr8	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	350	0.0029	48	c.377 others(65): Show c.377+5905_377+5952dupGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A7_chr4_146248981_146526940	146287086	C C	CGAGTGGT others(41): Show CGAGTGGTGAGAAGGACCGAGTCTGGAGTGGTGAGAAGGACCGTGTCTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19240.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0190 a0001c0001t0009g0204 a0001c0001t0009g0190 a0001c0001t0009g0204	2	244	0.0082	48	c.774 others(65): Show c.774-3869_774-3822dupCAGACACGGTCCTTCTCACCACTCCAGA CTCGGTCCTTCTCACCACTC	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	9/11			chr4	TogoVar
SLC12A6_chr15_34224784_34342781	34310785	T T	TGTGTTGT others(41): Show TGTGTTGTGTGTCCCCGTGTCCAGGCTGGTGTTGAACTCCTGGGCTCAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03130.hp1 others(3): Show HG02257.hp2 HG02559.hp2 HG03130.hp1 HG03516.hp1 HG03579.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0016 a0001c0001 a0003c0016	a0001c0001t0001 a0003c0016t0001 a0001c0001t0001 a0003c0016t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0003c0016t0001g0017	6	274	0.0219	48	c.271 others(67): Show c.271+25624_271+25625insTTGAGCCCAGGAGTTCAACACCAGCC TGGACACGGGGACACACAACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1045489	G G	GGTTAGTG others(41): Show GGTTAGTGTGTGAATGAATGGGTGAGTTCGTGTGTGAATGAGTGGGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0077 a0001c0005t0013g0077	1	118	0.0085	48	c.68 others(59): Show c.6870_*6871insTTACCCACTCATTCACACACGAACTCACCCATTC ATTCACACACTAAC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		4894		chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAC others(41): Show AGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0245 a0001c0002t0005g0245	1	390	0.0026	48	c.111 others(67): Show c.111+18399_111+18400insGATAGATAGATCTGGGTGGGTAGATA AAGAGCTATCTGTCTGTCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAT others(41): Show AGATAGATAGACAGACAGATAGCTCTTTATCTACCCACCCAGATCTATC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0332 a0001c0005t0002g0332	1	390	0.0026	48	c.111 others(67): Show c.111+18399_111+18400insGATAGATCTGGGTGGGTAGATAAAGA GCTATCTGTCTGTCTATCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(41): Show ATATATACATATATATATATATATATATACATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(72): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG02155.hp2 HG02293.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18969.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19072.hp1 NA19072.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0013	a0001c0002 a0001c0004 a0002c0001 others(10): Show a0001c0002 a0001c0004 a0002c0001 a0003c0005 a0003c0006 a0003c0018 a0004c0003 a0006c0007 a0007c0009 a0008c0011 a0009c0012 a0011c0015 a0013c0016	a0001c0002t0003 a0001c0004t0004 a0002c0001t0001 others(17): Show a0001c0002t0003 a0001c0004t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0012 a0003c0005t0001 a0003c0005t0002 a0003c0006t0019 a0003c0018t0002 a0004c0003t0001 a0004c0003t0021 a0006c0007t0003 a0006c0007t0004 a0007c0009t0001 a0008c0011t0011 a0009c0012t0002 a0009c0012t0005 a0011c0015t0003 a0013c0016t0001	a0001c0002t0003g0014 a0001c0002t0003g0179 a0001c0002t0003g0192 others(66): Show a0001c0002t0003g0014 a0001c0002t0003g0179 a0001c0002t0003g0192 a0001c0002t0003g0208 a0001c0002t0003g0233 a0001c0002t0003g0237 a0001c0004t0004g0234 a0002c0001t0001g0028 a0002c0001t0001g0164 a0002c0001t0001g0239 a0002c0001t0001g0278 a0002c0001t0002g0009 a0002c0001t0002g0021 a0002c0001t0002g0022 a0002c0001t0002g0128 a0002c0001t0002g0141 a0002c0001t0002g0171 a0002c0001t0002g0173 a0002c0001t0002g0196 a0002c0001t0002g0197 a0002c0001t0002g0199 a0002c0001t0002g0200 a0002c0001t0002g0201 a0002c0001t0002g0203 a0002c0001t0002g0205 a0002c0001t0002g0206 a0002c0001t0002g0238 a0002c0001t0002g0249 a0002c0001t0002g0263 a0002c0001t0002g0348 a0002c0001t0005g0004 a0002c0001t0005g0172 a0002c0001t0005g0178 a0002c0001t0005g0198 a0002c0001t0005g0248 a0002c0001t0005g0265 a0002c0001t0005g0272 a0002c0001t0012g0163 a0003c0005t0001g0058 a0003c0005t0001g0255 a0003c0005t0002g0299 a0003c0006t0019g0089 a0003c0018t0002g0169 a0004c0003t0001g0256 a0004c0003t0001g0294 a0004c0003t0001g0309 a0004c0003t0021g0165 a0006c0007t0003g0002 a0006c0007t0003g0070 a0006c0007t0003g0194 a0006c0007t0003g0195 a0006c0007t0003g0250 a0006c0007t0004g0069 a0006c0007t0004g0087 a0006c0007t0004g0088 a0007c0009t0001g0010 a0007c0009t0001g0223 a0007c0009t0001g0224 a0007c0009t0001g0241 a0007c0009t0001g0245 a0007c0009t0001g0260 a0007c0009t0001g0261 a0007c0009t0001g0262 a0007c0009t0001g0264 a0008c0011t0011g0099 a0009c0012t0002g0137 a0009c0012t0005g0142 a0011c0015t0003g0193 a0013c0016t0001g0102	75	402	0.1866	48	c.135 others(67): Show c.1351+1463_1351+1464insTACATATATATATATATATATATACA TATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC14A2_chr18_45610476_45688688	45645619	A A	ATATATAC others(41): Show ATATATACATATATATATATATATATATATACATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02135.hp1 HG02280.hp2 others(3): Show HG01070.hp1 HG02135.hp1 HG02280.hp2 HG02615.hp1 HG03471.hp2 HG03834.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0003 a0002c0001 a0004c0003	a0002c0001t0001 a0002c0001t0002 a0002c0001t0016 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0016 a0004c0003t0001	a0002c0001t0001g0232 a0002c0001t0002g0019 a0002c0001t0002g0162 others(3): Show a0002c0001t0001g0232 a0002c0001t0002g0019 a0002c0001t0002g0162 a0002c0001t0002g0185 a0002c0001t0016g0020 a0004c0003t0001g0231	6	402	0.0149	48	c.135 others(67): Show c.1351+1463_1351+1464insTACATATATATATATATATATATATA CATATATATATATATATTTATA	SLC14A2	ENSG00000132874.15	transcript	ENST00000255226.11	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr18	TogoVar
SLC16A2_chrX_74416493_74538916	74439158	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18612.hp1 NA18967.hp1 others(3): Show HG02886.hp1 NA18612.hp1 NA18967.hp1 NA18994.hp1 NA19006.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0001g0182 others(3): Show a0001c0001t0001g0111 a0001c0001t0001g0165 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0211	6	235	0.0255	48	c.430 others(67): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC16A2_chrX_74416493_74538916	74439186	T T	TTCTTTCT others(41): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	235	0.0043	48	c.430 others(67): Show c.430+17120_430+17121insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCT	SLC16A2	ENSG00000147100.11	transcript	ENST00000587091.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar

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