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
SCLY_chr2_238056001_238104413	238098621	G G	GACCGCCC others(35): Show GACCGCCCACATAGAACCGCCCACATGGGACCGCCCACATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0014 a0001c0001t0026g0014	1	369	0.0027	42	c.27 others(51): Show c.277_*278insAGAACCGCCCACATGGGACCGCCCACATAGAACCGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	278	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098623	C C	CCGCCCAC others(35): Show CCGCCCACATGGGAACGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 NA18948.hp2 HG00558.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0045 a0001c0001t0042g0110 a0001c0001t0042g0045 a0001c0001t0042g0110	2	338	0.0059	42	c.28 others(51): Show c.281_*282insACGCCCACATGGGACCGCCCACATGGGAACGCCCAC ATGGGA	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	282	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098640	C C	CCCACATA others(35): Show CCCACATAGGACCGCCCACATGGGAACGCCCACATAGAACCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0143 a0001c0004t0143	a0001c0004t0143g0259 a0001c0004t0143g0259	1	331	0.0030	42	c.29 others(51): Show c.291_*292insAGGACCGCCCACATGGGAACGCCCACATAGAACCGT CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	292	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCLY_chr2_238056001_238104413	238098651	C C	CCGCCCAC others(35): Show CCGCCCACATGGGACCGCCCACATGGGACCGCCCACATGGGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0053 a0001c0001t0109g0053	1	340	0.0029	42	c.30 others(51): Show c.305_*306insGGGACCGCCCACATGGGACCGCCCACATGGGAACGC CCACAT	SCLY	ENSG00000132330.18	transcript	ENST00000254663.12	protein_coding	12/12	306	INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(35): Show GTGTATATATATATGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02040.hp1 HG01496.hp2 HG02040.hp1	a0002 a0002	a0002c0001 a0002c0067 a0002c0001 a0002c0067	a0002c0001t0001 a0002c0067t0001 a0002c0001t0001 a0002c0067t0001	a0002c0001t0001g0052 a0002c0067t0001g0238 a0002c0001t0001g0052 a0002c0067t0001g0238	2	176	0.0114	42	c.186 others(61): Show c.1868-3535_1868-3534insTATATATATATATATATATATACACA CACATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291463	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0116 a0005c0011t0002g0116	1	356	0.0028	42	c.-51 others(59): Show c.-51-4309_-51-4308insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340604	T T	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp1 HG00735.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0015	3	247	0.0121	42	c.-50 others(61): Show c.-50-28799_-50-28798insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343609	A A	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0091 a0001c0008t0003g0091	1	303	0.0033	42	c.-8- others(57): Show c.-8-4942_-8-4941insGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289561	T T	TCCCCCGT others(35): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	250	0.0040	42	c.166 others(59): Show c.1663-707_1663-706insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(35): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0085 a0002c0003t0002g0085	1	239	0.0042	42	c.166 others(59): Show c.1663-653_1663-652insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290018	T T	TCCCCCGT others(35): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0010 a0009c0014t0001g0010	1	261	0.0038	42	c.166 others(59): Show c.1663-250_1663-249insCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23218148	A A	ATATATTA others(35): Show ATATATTATATATATTTTATATATATATACGTATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00639.hp2 others(45): Show HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01099.hp2 HG01167.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 NA18906.hp2 NA18941.hp1 NA18951.hp2 NA18982.hp1 NA19043.hp2 NA19066.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0006 a0001c0003 a0001c0005 a0002c0006	a0001c0003t0002 a0001c0003t0010 a0001c0005t0007 others(1): Show a0001c0003t0002 a0001c0003t0010 a0001c0005t0007 a0002c0006t0007	a0001c0003t0002g0009 a0001c0003t0002g0011 a0001c0003t0002g0050 others(43): Show a0001c0003t0002g0009 a0001c0003t0002g0011 a0001c0003t0002g0050 a0001c0003t0002g0094 a0001c0003t0002g0095 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0118 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0238 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0010g0049 a0001c0005t0007g0249 a0001c0005t0007g0250 a0001c0005t0007g0251 a0001c0005t0007g0252 a0001c0005t0007g0253 a0002c0006t0007g0030 a0002c0006t0007g0031	48	315	0.1524	42	c.26 others(53): Show c.2679_*2680insTATATTATATATATTTTATATATATATACGTATA TATATACG	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding		1266		chr16	TogoVar
SCUBE1_chr22_43192280_43348372	43192616	A A	ATATATGT others(35): Show ATATATGTGTATATATATATACACATGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0072 a0002c0014t0072	a0002c0014t0072g0260 a0002c0014t0072g0260	1	274	0.0036	42	c.11 others(55): Show c.11380_*11381insCGTATATATATATATACATGTGTATATATATA TACACATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4663		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192632	A A	ATATACAT others(35): Show ATATACATGTATATATATATATACGTATATATATATATACATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0009 a0004c0028t0009	a0004c0028t0009g0043 a0004c0028t0009g0043	1	231	0.0043	42	c.11 others(55): Show c.11364_*11365insCATGTATATATATATATACGTATATATATATA TACATGTATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4647		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0177 a0003c0008t0006g0177	1	121	0.0083	42	c.120 others(59): Show c.1208-967_1208-966insAAAAAATATATATATATATATATATATA TATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03710.hp1 NA18981.hp2 others(2): Show HG01517.hp1 HG03710.hp1 NA18981.hp2 NA19012.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0009 a0001c0001t0001g0240 a0001c0003t0001g0039 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0240 a0001c0003t0001g0039 a0001c0003t0001g0286 a0001c0003t0003g0176	5	78	0.0641	42	c.61- others(59): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243480860	G G	GTGGGATG others(35): Show GTGGGATGGATGGATGGATGGATGGATGGGTGGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	186	0.0054	42	c.198 others(61): Show c.1986-8151_1986-8150insGATGGATGGATGGATGGATGGATGGG TGGGATGGATGGATGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(35): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18978.hp1 NA18987.hp1 HG03139.hp1 NA18978.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0004 a0001c0001t0002g0137 a0001c0001t0001g0046 a0001c0001t0002g0004 a0001c0001t0002g0137	3	5	0.6000	42	c.-19 others(53): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHC_chr1_161309381_161368206	161309552	A A	ATATATAT others(35): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG03834.hp1 HG00280.hp1 HG01192.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0053	3	64	0.0469	42	c.-48 others(53): Show c.-4854_-4853insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding		4828		chr1	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0028 a0028	a0028c0018 a0028c0018	a0028c0018t0071 a0028c0018t0071	a0028c0018t0071g0005 a0028c0018t0071g0005	1	88	0.0114	42	c.301 others(61): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTCTCTGTGTGT ATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0086 a0001c0026t0002g0086	1	88	0.0114	42	c.301 others(61): Show c.3011-2113_3011-2112insCTCTCTCTCTCTGTGTGTGTGTATAT ATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0026 a0026	a0026c0074 a0026c0074	a0026c0074t0009 a0026c0074t0009	a0026c0074t0009g0113 a0026c0074t0009g0113	1	172	0.0058	42	c.559 others(61): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0011 a0011	a0011c0063 a0011c0063	a0011c0063t0025 a0011c0063t0025	a0011c0063t0025g0167 a0011c0063t0025g0167	1	52	0.0192	42	c.559 others(61): Show c.5594-2538_5594-2537insAAAAAAAATATATATATATATATATA TATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73388776	T T	TTCCTTCC others(35): Show TTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01167.hp2 others(23): Show HG00099.hp2 HG00621.hp1 HG01167.hp2 HG02148.hp2 HG02155.hp1 HG02451.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp1 NA18961.hp1 NA18970.hp1 NA18990.hp1 NA18990.hp2 NA19007.hp2 NA19066.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0022 a0026	a0001c0008 a0001c0015 a0001c0016 others(16): Show a0001c0008 a0001c0015 a0001c0016 a0001c0018 a0001c0039 a0001c0082 a0001c0110 a0002c0101 a0002c0104 a0003c0009 a0003c0017 a0003c0022 a0003c0045 a0003c0088 a0003c0112 a0009c0021 a0009c0113 a0022c0081 a0026c0074	a0001c0008t0005 a0001c0008t0085 a0001c0015t0012 others(22): Show a0001c0008t0005 a0001c0008t0085 a0001c0015t0012 a0001c0016t0026 a0001c0016t0080 a0001c0018t0017 a0001c0039t0047 a0001c0082t0005 a0001c0110t0002 a0002c0101t0005 a0002c0104t0003 a0003c0009t0002 a0003c0009t0003 a0003c0009t0016 a0003c0009t0087 a0003c0017t0084 a0003c0017t0086 a0003c0022t0003 a0003c0045t0098 a0003c0088t0012 a0003c0112t0019 a0009c0021t0004 a0009c0113t0064 a0022c0081t0001 a0026c0074t0009	a0001c0008t0005g0136 a0001c0008t0085g0143 a0001c0015t0012g0074 others(23): Show a0001c0008t0005g0136 a0001c0008t0085g0143 a0001c0015t0012g0074 a0001c0016t0026g0128 a0001c0016t0080g0166 a0001c0018t0017g0153 a0001c0039t0047g0147 a0001c0082t0005g0094 a0001c0110t0002g0121 a0002c0101t0005g0077 a0002c0104t0003g0194 a0003c0009t0002g0089 a0003c0009t0002g0200 a0003c0009t0003g0084 a0003c0009t0016g0103 a0003c0009t0087g0008 a0003c0017t0084g0150 a0003c0017t0086g0097 a0003c0022t0003g0168 a0003c0045t0098g0197 a0003c0088t0012g0174 a0003c0112t0019g0102 a0009c0021t0004g0192 a0009c0113t0064g0023 a0022c0081t0001g0182 a0026c0074t0009g0113	26	201	0.1294	42	c.419 others(59): Show c.4193-781_4193-740dupGAGGGAGGGAAGGAAGGAAGGAGGGAGG GAAGGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73388800	T T	TTCCTTCC others(35): Show TTCCTTCCTTCCCTCCCTCTCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0028 a0004c0040t0028	a0004c0040t0028g0129 a0004c0040t0028g0129	1	196	0.0051	42	c.419 others(59): Show c.4193-764_4193-763insGGGAGGGAAGGAAGGAAGGAAGGAGAGG GAGGGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73388818	C C	CTCCTTCC others(35): Show CTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0002 a0001c0032t0002	a0001c0032t0002g0120 a0001c0032t0002g0120	1	122	0.0082	42	c.419 others(59): Show c.4193-782_4193-781insAGGAGAGGGAGGGAAGGAAGGAGGGAGG GAAGGAAGGAAGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	29/44			chr17	TogoVar
SEC31A_chr4_82813509_82896153	82841442	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0156 a0001c0010t0001g0156	1	36	0.0278	42	c.296 others(59): Show c.2968+697_2968+698insTATATATATATATATATATATATATATA TATATATATATATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SECTM1_chr17_82316024_82338766	82333615	T T	TCCCCAGC others(35): Show TCCCCAGCACCGGGCCCCCAGCACCGAGTCCCCAGCACCGAGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG01255.hp1 others(20): Show HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01891.hp1 HG02040.hp2 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03471.hp1 HG03540.hp1 HG04204.hp2 NA18522.hp1 NA18951.hp1 NA18954.hp1 NA19043.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0002 a0004c0005t0001 a0001c0001t0001 a0001c0002t0002 a0004c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0106 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0002t0002g0034 a0001c0002t0002g0113 a0004c0005t0001g0108	23	371	0.0620	42	c.-53 others(55): Show c.-53+84_-53+85insGCTCGGTGCTGGGGACTCGGTGCTGGGGGCCC GGTGCTGGGG	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding	1/4			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(35): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 NA18956.hp2 HG02083.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0037 a0001c0001t0002g0013 a0001c0001t0002g0037	2	51	0.0392	42	c.11 others(53): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(35): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG02293.hp2 others(5): Show HG00438.hp1 HG01943.hp1 HG02293.hp2 HG02486.hp2 NA18954.hp1 NA18961.hp2 NA18978.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0202 others(5): Show a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0002g0006 a0001c0001t0002g0047 a0001c0001t0002g0067	8	57	0.1404	42	c.11 others(53): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTT CTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(35): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01167.hp1 others(1): Show HG00323.hp2 HG00673.hp1 HG01167.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0003 a0002c0009t0003 a0002c0002t0003 a0002c0009t0003	a0002c0002t0003g0186 a0002c0002t0003g0239 a0002c0002t0003g0240 others(1): Show a0002c0002t0003g0186 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0009t0003g0273	4	288	0.0139	42	c.11 others(53): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848544	A A	AGCATGAG others(35): Show AGCATGAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	316	0.0032	42	c.94 others(51): Show c.940_*941insCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTC TCATGC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		702		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(35): Show GAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	36	0.0278	42	c.92 others(51): Show c.929_*930insTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCT TCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848556	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0137 a0001c0004t0001g0137	1	313	0.0032	42	c.92 others(51): Show c.928_*929insCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		690		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848559	A A	AGAAGAAG others(35): Show AGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG03017.hp1 HG02683.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0236 a0001c0001t0001g0247	2	322	0.0062	42	c.92 others(51): Show c.925_*926insCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTCTTC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		687		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13994583	T T	TGGGGGGG others(35): Show TGGGGGGGGGGGGGGGGGGGGGGGGCTGGGGTGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	322	0.0031	42	c.-40 others(53): Show c.-4050_-4049insCCCCCCCCCCCACCCCAGCCCCCCCCCCCCCCCC CCCCCCCC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		3970		chr20	TogoVar
SEL1L3_chr4_25742433_25867988	25746515	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG03139.hp2 NA18944.hp2 others(3): Show HG01081.hp1 HG03139.hp2 NA18944.hp2 NA19003.hp1 NA19043.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0007 a0001c0001 a0001c0011 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0011t0003 a0004c0007t0002	a0001c0001t0002g0153 a0001c0001t0003g0026 a0001c0001t0003g0039 others(3): Show a0001c0001t0002g0153 a0001c0001t0003g0026 a0001c0001t0003g0039 a0001c0001t0003g0276 a0001c0011t0003g0172 a0004c0007t0002g0167	6	248	0.0242	42	c.19 others(53): Show c.1909_*1910insTTAAATATATATATATATATATATATATATATAT ATATATAT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding		917		chr4	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0233 a0001c0001t0021g0233	1	31	0.0323	42	c.35 others(53): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA5A_chr5_9030033_9551075	9088659	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02257.hp1 HG01517.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0015 a0001c0010t0075 a0001c0001t0015 a0001c0010t0075	a0001c0001t0015g0093 a0001c0010t0075g0107 a0001c0001t0015g0093 a0001c0010t0075g0107	2	83	0.0241	42	c.207 others(63): Show c.2073+19480_2073+19481insGTGTGTGTGTGTATATATATATAT ATATATATATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(35): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0003 a0001c0002t0009g0003	1	38	0.0263	42	c.125 others(61): Show c.125-15287_125-15286insTCCTTTCCTTTCCCTTTCCTTTCCTT TCCTTTCCTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMG2_chr20_45216373_45229458	45225548	G G	GAAAGAAA others(35): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02027.hp2 HG02559.hp2 others(1): Show HG01884.hp2 HG02027.hp2 HG02559.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	4	333	0.0120	42	c.13 others(53): Show c.1302_*1303insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	SEMG2	ENSG00000124157.7	transcript	ENST00000372769.4	protein_coding		1091		chr20	TogoVar
SENP1_chr12_48037897_48111079	48078317	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	289	0.0035	42	c.553 others(59): Show c.553-3525_553-3524insTATATATATATATATATATATATATATA TATATATATATATA	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01496.hp1 HG01978.hp1 others(2): Show HG00423.hp1 HG01496.hp1 HG01978.hp1 HG03139.hp2 NA18985.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0006 a0001c0001t0001 a0004c0007t0006	a0001c0001t0001g0048 a0001c0001t0001g0360 a0001c0001t0001g0368 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0360 a0001c0001t0001g0368 a0001c0001t0001g0377 a0004c0007t0006g0235	5	162	0.0309	42	c.553 others(59): Show c.553-3542_553-3541insGTGTGTATATATATATATATATATATAT ATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18956.hp1 NA18963.hp2 others(3): Show HG02080.hp2 NA18956.hp1 NA18963.hp2 NA18974.hp1 NA19010.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0065 others(3): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0115 a0001c0001t0001g0353 a0001c0005t0001g0085	6	163	0.0368	42	c.553 others(59): Show c.553-3542_553-3541insGTATATATATATATATATATATATATAT ATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP5_chr3_196862920_196939714	196939147	G G	GGGAGATG others(35): Show GGGAGATGAAGGAAAACGTAGGGACGAGTGCAGGGACGCTTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	304	0.0033	42	c.82 others(53): Show c.8224_*8225insGGAGATGAAGGAAAACGTAGGGACGAGTGCAGGG ACGCTTGT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding		4434		chr3	TogoVar
SENP7_chr3_101319205_101518212	101463400	T T	TATATATA others(35): Show TATATATATATATATATATACATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0291 a0005c0007t0001g0291	1	218	0.0046	42	c.187 others(59): Show c.187-4349_187-4348insGTGTATATATATATATATATATGTATAT ATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77484910	A A	ATGTGGGT others(35): Show ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01346.hp2 others(17): Show HG01099.hp2 HG01106.hp2 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02738.hp2 HG02809.hp2 HG03471.hp1 HG03669.hp2 NA18973.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0036 a0001c0001t0047 a0001c0001t0057 a0002c0002t0025 a0002c0002t0044 a0003c0003t0002 a0003c0003t0007	a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 others(17): Show a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0002g0050 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0005g0019 a0001c0001t0005g0023 a0001c0001t0009g0143 a0001c0001t0009g0144 a0001c0001t0016g0067 a0001c0001t0019g0060 a0001c0001t0021g0090 a0001c0001t0036g0083 a0001c0001t0047g0009 a0001c0001t0057g0027 a0002c0002t0025g0070 a0002c0002t0044g0038 a0003c0003t0002g0089 a0003c0003t0002g0124 a0003c0003t0007g0003	20	102	0.1961	42	c.914 others(59): Show c.914-2512_914-2511insTGGGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484910	A A	ATGTGGGT others(35): Show ATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATGTGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01346.hp1 others(19): Show HG01099.hp2 HG01106.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp1 HG02738.hp2 HG02809.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 NA18973.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0030 a0001c0001t0057 a0002c0002t0022 a0002c0002t0027 a0003c0003t0002 a0003c0003t0032 a0003c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0143 a0001c0001t0006g0019 a0001c0001t0006g0121 a0001c0001t0013g0047 a0001c0001t0016g0091 a0001c0001t0019g0002 a0001c0001t0019g0030 a0001c0001t0020g0049 a0001c0001t0030g0153 a0001c0001t0057g0072 a0002c0002t0022g0065 a0002c0002t0027g0053 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0032g0055 a0003c0009t0001g0017	22	109	0.2018	42	c.860 others(59): Show c.860-2512_860-2511insTGGGTGGTGGTGGTGATGTGGGTGGTGG TGGTGATGTGGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169445	A A	AATATGTA others(35): Show AATATGTATATTATATATTATATATAATATTATATTGTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	363	0.0028	42	c.-13 others(53): Show c.-1308_-1307insAATATACAATATAATATTATATATAATATATAAT ATACATAT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1184		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169507	T T	TTGTATAT others(35): Show TTGTATATTATATATAATATACAGTATATTATATATAATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	291	0.0034	42	c.-14 others(53): Show c.-1411_-1370dupGTATATTATATATAATATACTGTATATTATATAT AATATACA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1246		chr6	TogoVar

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