Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SDK1_chr7_3296252_4274000	3976166	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAG AC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0088 a0001c0088	a0001c0088t0009 a0001c0088t0009	a0001c0088t0009g0048 a0001c0088t0009g0048	1	116	0.0086	51	c.199 others(70): Show c.1994+1641_1994+1642insGGGGTCCCGGGGCTGAGGCTGCCACA CAGACGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976187	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0036 a0006c0006t0001g0036	1	116	0.0086	51	c.199 others(70): Show c.1994+1671_1994+1672insCGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976211	C C	CGCAGAGG others(44): Show CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCC AT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0060 a0001c0010t0060	a0001c0010t0060g0017 a0001c0010t0060g0017	1	116	0.0086	51	c.199 others(70): Show c.1994+1692_1994+1693insGGGGTCCCGGGGCTGAGGCTGCCATG CAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976217	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0005 a0023c0035t0005	a0023c0035t0005g0058 a0023c0035t0005g0058	1	116	0.0086	51	c.199 others(70): Show c.1994+1718_1994+1719insCAGACGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976238	A A	AGGGTCCC others(44): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0033 a0001c0036t0033	a0001c0036t0033g0116 a0001c0036t0033g0116	1	116	0.0086	51	c.199 others(70): Show c.1994+1718_1994+1719insCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976319	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0015 a0002c0013t0015	a0002c0013t0015g0025 a0002c0013t0015g0025	1	116	0.0086	51	c.199 others(70): Show c.1994+1775_1994+1776insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976348	G G	GGGGCTGA others(44): Show GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0026 a0001c0071 a0001c0026 a0001c0071	a0001c0026t0002 a0001c0071t0057 a0001c0026t0002 a0001c0071t0057	a0001c0026t0002g0086 a0001c0071t0057g0031 a0001c0026t0002g0086 a0001c0071t0057g0031	2	116	0.0172	51	c.199 others(70): Show c.1994+1853_1994+1854insAGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGAGGGTCCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976351	G G	GCTGAGGC others(44): Show GCTGAGGCTGCCATGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0094 a0024c0094	a0024c0094t0025 a0024c0094t0025	a0024c0094t0025g0049 a0024c0094t0025g0049	1	116	0.0086	51	c.199 others(70): Show c.1994+1818_1994+1819insTGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGACTGAGGCTGCCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976372	G G	GTCCTCCA others(44): Show GTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02735.hp2 HG01516.hp2 HG02735.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0001 a0001c0005 a0003c0001	a0001c0005t0051 a0003c0001t0059 a0001c0005t0051 a0003c0001t0059	a0001c0005t0051g0030 a0003c0001t0059g0024 a0001c0005t0051g0030 a0003c0001t0059g0024	2	116	0.0172	51	c.199 others(70): Show c.1994+1871_1994+1872insCAGAGGATCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976416	G G	GCAGACGG others(44): Show GCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	116	0.0086	51	c.199 others(70): Show c.1994+1871_1994+1872insCAGACGGTCCTCCAGAGAATCACTGG GGGTCCCAGGGCTGAGGCTGCCACA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3976421	G G	GGGTCCTC others(44): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0041 a0001c0060t0041	a0001c0060t0041g0080 a0001c0060t0041g0080	1	116	0.0086	51	c.199 others(70): Show c.1994+1926_1994+1927insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976422	G G	GGTCCTCC others(44): Show GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGA CA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	116	0.0086	51	c.199 others(70): Show c.1994+1896_1994+1897insGGGGTCCCGGGGCTGAGGCTGCCACG CAGACAGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976687	A A	ACAGAGGG others(44): Show ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0069 a0026c0069t0069	a0026c0069t0069g0064 a0026c0069t0069g0064	1	116	0.0086	51	c.199 others(70): Show c.1994+2146_1994+2147insGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976692	C C	CGGTCCTC others(44): Show CGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAG AG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	116	0.0086	51	c.199 others(70): Show c.1994+2167_1994+2168insAGGGTCCCAGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976713	G G	GGGGTCCC others(44): Show GGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACT GA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0033 a0001c0036t0033	a0001c0036t0033g0116 a0001c0036t0033g0116	1	116	0.0086	51	c.199 others(70): Show c.1994+2192_1994+2193insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976738	G G	GCAGACGG others(44): Show GCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0070 a0010c0020t0070	a0010c0020t0070g0008 a0010c0020t0070g0008	1	116	0.0086	51	c.199 others(70): Show c.1994+2197_1994+2198insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACACAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976843	G G	GAGGGTCC others(44): Show GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACAC GA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	51	c.199 others(70): Show c.1994+2345_1994+2346insACGAAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977057	C C	CGGTCCTC others(44): Show CGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0012 a0006c0006t0012	a0006c0006t0012g0115 a0006c0006t0012g0115	1	116	0.0086	51	c.199 others(70): Show c.1994+2533_1994+2583dupGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977280	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGG GC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 HG01891.hp2 HG03209.hp2	a0001 a0004 a0001 a0004	a0001c0048 a0004c0065 a0001c0048 a0004c0065	a0001c0048t0001 a0004c0065t0037 a0001c0048t0001 a0004c0065t0037	a0001c0048t0001g0029 a0004c0065t0037g0065 a0001c0048t0001g0029 a0004c0065t0037g0065	2	116	0.0172	51	c.199 others(70): Show c.1994+2752_1994+2753insGGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGCCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977331	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(55): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0018 a0022 a0023 a0029 a0030 a0033 a0035	a0001c0002 a0001c0004 a0001c0005 others(44): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0031 a0001c0032 a0001c0034 a0001c0036 a0001c0038 a0001c0039 a0001c0062 a0001c0067 a0001c0087 a0001c0088 a0001c0091 a0001c0092 a0002c0009 a0002c0013 a0002c0029 a0002c0030 a0002c0042 a0002c0053 a0002c0054 a0002c0090 a0003c0001 a0003c0047 a0004c0055 a0004c0056 a0005c0003 a0005c0076 a0006c0044 a0007c0016 a0007c0077 a0008c0015 a0009c0079 a0011c0021 a0011c0022 a0014c0083 a0018c0028 a0022c0050 a0023c0035 a0029c0063 a0030c0073 a0033c0078 a0035c0018	a0001c0002t0002 a0001c0004t0001 a0001c0004t0005 others(53): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0005 a0001c0005t0051 a0001c0007t0003 a0001c0007t0021 a0001c0008t0004 a0001c0008t0007 a0001c0010t0060 a0001c0031t0001 a0001c0032t0058 a0001c0034t0028 a0001c0036t0033 a0001c0038t0013 a0001c0039t0050 a0001c0062t0053 a0001c0067t0068 a0001c0087t0009 a0001c0088t0009 a0001c0091t0010 a0001c0092t0048 a0002c0009t0004 a0002c0009t0056 a0002c0013t0015 a0002c0029t0005 a0002c0030t0034 a0002c0042t0002 a0002c0053t0067 a0002c0054t0002 a0002c0090t0010 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0001t0066 a0003c0047t0038 a0004c0055t0055 a0004c0056t0006 a0005c0003t0003 a0005c0003t0052 a0005c0076t0003 a0006c0044t0001 a0007c0016t0001 a0007c0016t0003 a0007c0077t0003 a0008c0015t0017 a0009c0079t0054 a0011c0021t0073 a0011c0022t0072 a0014c0083t0044 a0018c0028t0049 a0022c0050t0019 a0023c0035t0005 a0029c0063t0007 a0030c0073t0001 a0033c0078t0001 a0035c0018t0071	a0001c0002t0002g0095 a0001c0004t0001g0039 a0001c0004t0005g0102 others(55): Show a0001c0002t0002g0095 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0005t0051g0030 a0001c0007t0003g0033 a0001c0007t0021g0110 a0001c0008t0004g0096 a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0031t0001g0018 a0001c0032t0058g0043 a0001c0034t0028g0097 a0001c0036t0033g0116 a0001c0038t0013g0038 a0001c0039t0050g0022 a0001c0062t0053g0042 a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0092t0048g0057 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0013t0015g0025 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0090t0010g0047 a0003c0001t0003g0037 a0003c0001t0059g0024 a0003c0001t0063g0032 a0003c0001t0066g0041 a0003c0047t0038g0082 a0004c0055t0055g0021 a0004c0056t0006g0098 a0005c0003t0003g0069 a0005c0003t0003g0071 a0005c0003t0052g0070 a0005c0076t0003g0072 a0006c0044t0001g0020 a0007c0016t0001g0114 a0007c0016t0003g0068 a0007c0077t0003g0099 a0008c0015t0017g0059 a0008c0015t0017g0066 a0009c0079t0054g0073 a0011c0021t0073g0006 a0011c0022t0072g0007 a0014c0083t0044g0004 a0018c0028t0049g0035 a0022c0050t0019g0092 a0023c0035t0005g0058 a0029c0063t0007g0106 a0030c0073t0001g0015 a0033c0078t0001g0074 a0035c0018t0071g0005	58	116	0.5000	51	c.199 others(70): Show c.1994+2828_1994+2829insGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977374	A A	ACAGAGGG others(44): Show ACAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0019 a0019	a0019c0051 a0019c0051	a0019c0051t0062 a0019c0051t0062	a0019c0051t0062g0019 a0019c0051t0062g0019	1	116	0.0086	51	c.199 others(70): Show c.1994+2833_1994+2834insGGGCCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977425	A A	ACAGAGGG others(44): Show ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	116	0.0086	51	c.199 others(70): Show c.1994+2895_1994+2896insAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217231	T T	TGGAGCAC others(44): Show TGGAGCACCACACCACCCGGAGCACCAGGCCACCTGGAGCACCACACCAC CC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03471.hp1 HG02717.hp1 HG02896.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0040 a0001c0060 a0002c0013 a0001c0040 a0001c0060 a0002c0013	a0001c0040t0001 a0001c0060t0041 a0002c0013t0064 a0001c0040t0001 a0001c0060t0041 a0002c0013t0064	a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0026 a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0026	3	116	0.0259	51	c.554 others(70): Show c.5540-2869_5540-2868insCACCACCCGGAGCACCAGGCCACCTG GAGCACCACACCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217446	A A	ACCACCCG others(44): Show ACCACCCGGAGCACCAGGCCACCTGGAGCACCACACCACCCGGAGCACCA GG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG03516.hp1 HG01891.hp2 HG02647.hp1 HG03516.hp1	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0010 a0004c0065 a0020c0089 a0001c0010 a0004c0065 a0020c0089	a0001c0010t0060 a0004c0065t0037 a0020c0089t0047 a0001c0010t0060 a0004c0065t0037 a0020c0089t0047	a0001c0010t0060g0017 a0004c0065t0037g0065 a0020c0089t0047g0056 a0001c0010t0060g0017 a0004c0065t0037g0065 a0020c0089t0047g0056	3	116	0.0259	51	c.554 others(70): Show c.5540-2648_5540-2647insGGCCACCTGGAGCACCACACCACCCG GAGCACCAGGCCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217497	A A	ACCACCTG others(44): Show ACCACCTGGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCA GG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	116	0.0086	51	c.554 others(70): Show c.5540-2607_5540-2606insTGGAGCACCAGGCCACCCGGAGCACC ACACCACCCGGAGCACCAGGCCACC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217508	C C	CACCAGGC others(44): Show CACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACCCGGA GA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp1 others(40): Show HG00408.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0007 a0010 a0011 a0013 a0017 a0018 a0022 a0024 a0025 a0026 a0027 a0030 a0031 a0035	a0001c0004 a0001c0007 a0001c0010 others(39): Show a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0017 a0001c0025 a0001c0026 a0001c0031 a0001c0037 a0001c0048 a0001c0049 a0001c0059 a0001c0061 a0001c0064 a0001c0067 a0001c0072 a0001c0088 a0001c0092 a0001c0093 a0001c0095 a0002c0013 a0002c0043 a0002c0053 a0002c0066 a0003c0001 a0003c0033 a0004c0056 a0007c0016 a0010c0019 a0010c0020 a0011c0021 a0013c0084 a0017c0024 a0018c0028 a0022c0050 a0024c0094 a0025c0070 a0026c0069 a0027c0068 a0030c0073 a0031c0074 a0035c0018	a0001c0004t0001 a0001c0007t0021 a0001c0010t0002 others(39): Show a0001c0004t0001 a0001c0007t0021 a0001c0010t0002 a0001c0011t0008 a0001c0017t0011 a0001c0025t0024 a0001c0026t0002 a0001c0031t0001 a0001c0037t0002 a0001c0048t0001 a0001c0049t0036 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0001c0067t0068 a0001c0072t0065 a0001c0088t0009 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0013t0015 a0002c0043t0035 a0002c0053t0067 a0002c0066t0023 a0003c0001t0063 a0003c0033t0002 a0004c0056t0006 a0007c0016t0001 a0010c0019t0074 a0010c0020t0070 a0011c0021t0073 a0013c0084t0045 a0017c0024t0061 a0018c0028t0049 a0022c0050t0019 a0024c0094t0025 a0025c0070t0026 a0026c0069t0069 a0027c0068t0014 a0030c0073t0001 a0031c0074t0042 a0035c0018t0071	a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0010t0002g0085 others(40): Show a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0031t0001g0018 a0001c0037t0002g0077 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0067t0068g0001 a0001c0072t0065g0027 a0001c0088t0009g0048 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0013t0015g0025 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0066t0023g0089 a0003c0001t0063g0032 a0003c0033t0002g0103 a0004c0056t0006g0098 a0007c0016t0001g0114 a0010c0019t0074g0009 a0010c0020t0070g0008 a0011c0021t0073g0006 a0013c0084t0045g0011 a0017c0024t0061g0013 a0018c0028t0049g0035 a0022c0050t0019g0092 a0024c0094t0025g0049 a0025c0070t0026g0112 a0026c0069t0069g0064 a0027c0068t0014g0014 a0030c0073t0001g0015 a0031c0074t0042g0081 a0035c0018t0071g0005	43	116	0.3707	51	c.554 others(70): Show c.5540-2597_5540-2596insGGCCACCCGGAGCACCACACCACCCG GAGCACCAGGCCACCCGGAGAACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA19000.hp2 NA18990.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0049 a0001c0001t0002g0051	2	324	0.0062	51	c.11 others(62): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	324	0.0031	51	c.11 others(62): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(44): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0195 a0002c0002t0003g0195	1	324	0.0031	51	c.11 others(62): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848549	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0320 a0001c0001t0005g0320	1	324	0.0031	51	c.93 others(60): Show c.935_*936insTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		697		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0007 a0003c0005t0002g0007	1	324	0.0031	51	c.92 others(60): Show c.929_*930insTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02155.hp1 HG03492.hp2 others(1): Show HG01081.hp1 HG02155.hp1 HG03492.hp2 HG03927.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0002 a0001c0001t0001 a0010c0017t0002	a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0315 a0010c0017t0002g0040	4	324	0.0124	51	c.92 others(60): Show c.929_*930insTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	324	0.0031	51	c.92 others(60): Show c.929_*930insTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18995.hp1 NA19005.hp1 others(1): Show HG02155.hp2 NA18995.hp1 NA19005.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153	4	324	0.0124	51	c.92 others(60): Show c.929_*930insTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SELENOK_chr3_53879417_53896859	53891207	T T	TGTACTTA others(44): Show TGTACTTACAACACATATGAAAACACTATCATAGGTGCTGTTTACACGCT TA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	422	0.0024	51	c.19+ others(64): Show c.19+562_19+563insTAAGCGTGTAAACAGCACCTATGATAGTGTTT TCATATGTGTTGTAAGTAC	SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding	1/4			chr3	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTATATAT others(44): Show TTATATATAATATATTGTATATTATATATAATATATTGTATATTGTATAT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03579.hp2 NA19030.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0322 a0001c0002t0003g0319 a0001c0002t0003g0320 a0001c0002t0003g0322	3	366	0.0082	51	c.-16 others(62): Show c.-1608_-1607insTAATATACAATATACAATATATTATATATAATAT ACAATATATTATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERPINB7_chr18_63770418_63810370	63783220	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0387 a0001c0004t0006g0388 a0001c0004t0006g0387 a0001c0004t0006g0388	2	432	0.0046	51	c.168 others(66): Show c.168+681_168+682insAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(44): Show GTATATATATGTATATACGTATATATATACGTATATACATATAATATAAG TA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0218	1	432	0.0023	51	c.168 others(68): Show c.168+3575_168+3576insCGTATATATATACGTATATACATATAAT ATAAGTATATATATATGTATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(44): Show GTATATATATGTATATATGTATATATATACGTATATACATATAATATAAG TA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp1 others(29): Show HG00099.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp1 HG02071.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp2 HG04199.hp1 NA18939.hp1 NA18962.hp1 NA18968.hp1 NA18981.hp1 NA18998.hp1 NA19064.hp1 NA19080.hp2 NA19091.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0011 a0001c0001 a0002c0002 a0008c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0002t0003 a0008c0011t0003	a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0018 others(25): Show a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0113 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0292 a0001c0001t0004g0219 a0001c0001t0004g0233 a0001c0001t0008g0088 a0002c0002t0003g0204 a0002c0002t0003g0225 a0008c0011t0003g0214	32	432	0.0741	51	c.168 others(68): Show c.168+3601_168+3602insATATAAGTATATATATATGTATATATGT ATATATATACGTATATACATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINC1_chr1_173898800_173922327	173922147	G G	GAAAAAAA others(44): Show GAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	396	0.0025	51	c.-48 others(62): Show c.-4889_-4888insGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TCTTTTTTTTTTTTTTT	SERPINC1	ENSG00000117601.15	transcript	ENST00000367698.4	protein_coding		4821		chr1	TogoVar
SERPINF1_chr17_1757060_1782565	1758022	A A	ACGGGGTT others(44): Show ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	444	0.0023	51	c.-41 others(62): Show c.-4100_-4099insCGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGAT	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding		4037		chr17	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATAATATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0311 a0002c0003t0003g0311	1	406	0.0025	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATAATATAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATAATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0250 a0001c0002t0002g0250	1	406	0.0025	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATATAATAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATATAATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA20905.hp2 HG01192.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0229 a0001c0002t0002g0230	2	406	0.0049	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATATATAAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(44): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	328	0.0031	51	c.124 others(68): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SH2D1A_chrX_124341563_124378160	124350395	A A	ATATATAA others(44): Show ATATATAATATTATATAATATATAATATATAAATATATATTATATATAAT AT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	318	0.0031	51	c.137 others(68): Show c.137+3620_137+3621insTAATATTATATAATATATAATATATAAA TATATATTATATATAATATTATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BP2_chr4_2788085_2846096	2802659	G G	GTGTGTGT others(44): Show GTGTGTGTGTGTATATATGTATGTATGTGGTGTGTGTATATATATATGTA TA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0194 a0001c0003t0014g0194	1	378	0.0027	51	c.-5+ others(66): Show c.-5+9532_-5+9533insATATATGTATGTATGTGGTGTGTGTATATA TATATGTATATGTGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	204	0.0049	51	c.4+1 others(66): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTTATCTT others(44): Show CTTATCTTATCTATCTATCTATCTATCTATCTTATCTTATCTATCTATCT AT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0163 a0001c0003t0054g0163	1	280	0.0036	51	c.101 others(70): Show c.1013-1323_1013-1322insATAGATAGATAGATAAGATAAGATAG ATAGATAGATAGATAGATAAGATAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(44): Show GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0021 a0001c0017t0006g0021	1	172	0.0058	51	c.573 others(70): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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