Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SLCO1A2_chr12_21259600_21339917	21277270	T T	TGGCATTT others(309): Show TGGCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0142 a0001c0005t0008g0142	1	310	0.0032	316	c.161 others(335): Show c.1611-1847_1611-1846insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATGCC	SLCO1A2	ENSG00000084453.17	transcript	ENST00000683939.1	protein_coding	12/14			chr12	TogoVar
SNRNP70_chr19_49080451_49113604	49092919	T T	TTTGTTTT others(309): Show TTTGTTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	366	0.0027	316	c.265 others(333): Show c.265+2412_265+2413insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCTTGTTTTGTTCTT	SNRNP70	ENSG00000104852.15	transcript	ENST00000598441.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
SNTG2_chr2_945849_1372613	1221941	G G	GTCTCTCT others(309): Show GTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTT GTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCT GTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCT GCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGT CTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCT CTGTCTCTGTTTCTGTC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0143 a0011c0020t0001g0143	1	190	0.0053	316	c.719 others(335): Show c.719+12714_719+12715insCTCTCTGTCTCTGTCTCTCTCTGTCT CTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCT CTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCT GTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCT CTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCT CTCTGTCTCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCT CTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX4_chr3_125441650_125525202	125495537	T T	TTCAAATA others(309): Show TTCAAATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAG CTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG02055.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0157 a0001c0001t0002g0148 a0001c0001t0002g0157	2	360	0.0056	316	c.597 others(333): Show c.597+1803_597+1804insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTATTTGA	SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	5/13			chr3	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(309): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03486.hp2 HG03579.hp1 HG02615.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0016 a0001c0001t0004 a0001c0008t0016	a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0008t0016g0145 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0008t0016g0145	3	380	0.0079	316	c.-13 others(333): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGC CTCAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(309): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATACTATATACTGTATATTATATATACAATATACAGTATATTAT ATATACAATATATAGTATATATAATATACAGTATATTGTATATATAATAT ACAGTATATAGTATATATAATATACTATATATAGTATATATACAATATAC TATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02622.hp1 others(8): Show HG01884.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03195.hp1 HG03486.hp2 NA18522.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0002 a0001c0002t0033 a0002c0006t0029 a0001c0002t0002 a0001c0002t0033 a0002c0006t0029	a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0058 others(8): Show a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0071 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0033g0052 a0002c0006t0029g0041	11	289	0.0381	316	c.168 others(335): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATACTATATACTGTATATTATATATACAATATA CAGTATATTATATATACAATATATAGTATATATAATATACAGTATATTGT ATATATAATATACAGTATATAGTATATATAATATACTATATATAGTATAT ATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(309): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATACTATATACTGTATATTATATATACAATATACTGTATATTAT ATATACAATATATAGTATATATAATATACAGTATATTGTATATATAATAT ACAGTATATAGTATATATAATATACTATATATAGTATATATACAATATAC TATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(31): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG02056.hp1 HG02080.hp2 HG02257.hp2 HG02738.hp2 HG03017.hp1 HG03710.hp2 NA18943.hp2 NA18944.hp1 NA18954.hp2 NA18963.hp2 NA18975.hp2 NA18977.hp2 NA18990.hp1 NA19001.hp1 NA19005.hp2 NA19057.hp2 NA19062.hp2 NA19085.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0020 a0001c0002t0002 a0001c0002t0004 a0001c0002t0020 a0001c0002t0028 a0001c0002t0035	a0001c0001t0020g0171 a0001c0002t0002g0001 a0001c0002t0002g0046 others(30): Show a0001c0001t0020g0171 a0001c0002t0002g0001 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0089 a0001c0002t0002g0104 a0001c0002t0004g0064 a0001c0002t0004g0067 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0080 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0020g0077 a0001c0002t0028g0068 a0001c0002t0035g0057	34	289	0.1177	316	c.168 others(335): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATACTATATACTGTATATTATATATACAATATA CTGTATATTATATATACAATATATAGTATATATAATATACAGTATATTGT ATATATAATATACAGTATATAGTATATATAATATACTATATATAGTATAT ATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(309): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATACTATATACTGTATATTATATATACAATATACTGTATATTAT ATATACTATATATAGTATATATAATATACAGTATATTGTATATATAATAT ACAGTATATAGTATATATAATATACTATATATAGTATATATACAATATAC TATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0066 a0001c0002t0004g0066	1	289	0.0035	316	c.168 others(335): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATACTATATACTGTATATTATATATACAATATA CTGTATATTATATATACTATATATAGTATATATAATATACAGTATATTGT ATATATAATATACAGTATATAGTATATATAATATACTATATATAGTATAT ATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(309): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATGATATACAATATATAGTATATTATATA CTATATAGTATAATATACTATATACAGTATATTATATATACTATATACAG TATAATATACTATATACTGTATATTATATATACAATATACTGTATATTAT ATATACAATATATAGTATATATAATATACAGTATATTGTATATATAATAT ACAGTATATAGTATATATAATATACTATATATAGTATATATACAATATAC TATATATGTTTATACTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	289	0.0035	316	c.168 others(335): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATGATATACAATATATAG TATATTATATACTATATAGTATAATATACTATATACAGTATATTATATAT ACTATATACAGTATAATATACTATATACTGTATATTATATATACAATATA CTGTATATTATATATACAATATATAGTATATATAATATACAGTATATTGT ATATATAATATACAGTATATAGTATATATAATATACTATATATAGTATAT ATACAATATACTATATATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORCS1_chr10_106568663_107169706	106831652	C C	CAAGAAAG others(309): Show CAAGAAAGCTGCATAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGC ACTCTCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02280.hp1 HG02451.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0006 a0001c0001t0001 a0001c0001t0003 a0001c0002t0006	a0001c0001t0001g0006 a0001c0001t0003g0042 a0001c0002t0006g0049 a0001c0001t0001g0006 a0001c0001t0003g0042 a0001c0002t0006g0049	3	130	0.0231	316	c.627 others(333): Show c.627-1980_627-1979insTTTTTTTTTTTTTTTTATTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGAGAGTGCTGTGGCGCG ATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTATGCAGCTTTCTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(309): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACATGCACACACATACAGATATACAGAGACACATGTACACACATG CACACACATACAGGTACACGGAGATACATATGCACACGCATACAGGCACA CAGAGATACACACATGCACACGCACACACATACAGATACACAGATACACA TGCACATACAGATACACAGAGATACACATGTACACACATACAGGTATGCA GATACACATGCACATATGCACACGTGCACACACGCACACACGTACAGATA CACAGAGACACGTACAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	168	0.0060	316	c.481 others(333): Show c.481-8410_481-8409insTATGCACACATGCACACACACATGCACA CACATACAGATATACAGAGACACATGTACACACATGCACACACATACAGG TACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACACA TGCACACGCACACACATACAGATACACAGATACACATGCACATACAGATA CACAGAGATACACATGTACACACATACAGGTATGCAGATACACATGCACA TATGCACACGTGCACACACGCACACACGTACAGATACACAGAGACACGTA CAGATGCACACACATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387843	C C	CATGCACA others(309): Show CATGCACACACATACAGGTACACAGAGATACACACATATGCACACATGCA CACACACATGCACACACATACAGATATACAGAGACACATGTACACACATG CACACACATACAGGTACACGGAGATACATATGCACACGCATACAGGCACA CAGAGATACACATGCACACGCACACACATACAGATACACAGATACACATG CACATACAGATACACAGAGATACACATGTGCACACATACAGGTATGCAGA TACACATGCACATATGCACACGTGCACACACGCACACACATACAGATACA CAGAGACACATGTACAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0036 a0003c0012t0036	a0003c0012t0036g0010 a0003c0012t0036g0010	1	168	0.0060	316	c.481 others(333): Show c.481-8410_481-8409insTATGCACACATGCACACACACATGCACA CACATACAGATATACAGAGACACATGTACACACATGCACACACATACAGG TACACGGAGATACATATGCACACGCATACAGGCACACAGAGATACACATG CACACGCACACACATACAGATACACAGATACACATGCACATACAGATACA CAGAGATACACATGTGCACACATACAGGTATGCAGATACACATGCACATA TGCACACGTGCACACACGCACACACATACAGATACACAGAGACACATGTA CAGATGCACACACATACAGGTACACAGAGATACACACA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(309): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02896.hp1 NA18986.hp2 others(2): Show HG02698.hp2 HG02896.hp1 NA18986.hp2 NA19056.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0077 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0003g0112	5	246	0.0203	316	c.88- others(333): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCTTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(309): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02109.hp1 others(13): Show HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03486.hp2 NA18522.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0018 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020	a0001c0001t0004g0007 a0001c0001t0004g0024 a0001c0001t0004g0041 others(13): Show a0001c0001t0004g0007 a0001c0001t0004g0024 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0050 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0061 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0017g0044 a0001c0001t0018g0047 a0001c0001t0019g0055 a0001c0001t0020g0053	16	246	0.0650	316	c.88- others(333): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SOS1_chr2_38976549_39126051	39088183	C C	CATATCAG others(309): Show CATATCAGTGGTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0189 a0001c0001t0034g0189	1	246	0.0041	316	c.88- others(333): Show c.88-20431_88-20430insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAACCACTGATAT	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SP4_chr7_21423083_21519822	21503400	A A	AGGCATTT others(309): Show AGGCATTTTAGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	426	0.0024	316	c.210 others(335): Show c.2108-7607_2108-7606insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCGGCATTTTAGTTTTT	SP4	ENSG00000105866.15	transcript	ENST00000222584.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPAAR_chr9_35904490_35916686	35913914	T T	TAGTGTGT others(309): Show TAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTGTA GTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGC TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGT AAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG03098.hp1 others(1): Show HG01496.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0001t0001g0001 a0001c0001t0005g0002	4	420	0.0095	316	c.32 others(327): Show c.3223_*3224insAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTG TGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT AGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTG CTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2229		chr9	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(309): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCT CCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCG CTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	316	c.54 others(327): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPICE1_chr3_113437718_113520156	113484687	T T	TTTGAGTG others(309): Show TTTGAGTGAGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00597.hp2 others(20): Show HG00323.hp1 HG00544.hp1 HG00597.hp2 HG02145.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp1 NA18951.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18985.hp1 NA18989.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0008 a0002c0003 a0002c0008	a0002c0003t0005 a0002c0003t0009 a0002c0008t0012 a0002c0003t0005 a0002c0003t0009 a0002c0008t0012	a0002c0003t0005g0334 a0002c0003t0005g0335 a0002c0003t0005g0336 others(20): Show a0002c0003t0005g0334 a0002c0003t0005g0335 a0002c0003t0005g0336 a0002c0003t0005g0338 a0002c0003t0005g0339 a0002c0003t0005g0340 a0002c0003t0005g0341 a0002c0003t0005g0342 a0002c0003t0005g0344 a0002c0003t0005g0347 a0002c0003t0005g0348 a0002c0003t0005g0352 a0002c0003t0005g0353 a0002c0003t0005g0356 a0002c0003t0009g0343 a0002c0003t0009g0345 a0002c0003t0009g0346 a0002c0003t0009g0349 a0002c0003t0009g0350 a0002c0003t0009g0355 a0002c0008t0012g0110 a0002c0008t0012g0165 a0002c0008t0012g0178	23	364	0.0632	316	c.611 others(333): Show c.611+4257_611+4258insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAGAAACTCACTCAA	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(309): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	260	0.0039	316	c.138 others(335): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(309): Show AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0019 a0019	a0019c0014 a0019c0014	a0019c0014t0001 a0019c0014t0001	a0019c0014t0001g0150 a0019c0014t0001g0150	1	260	0.0039	316	c.138 others(335): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(309): Show GCCACACACATATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	396	0.0025	316	c.485 others(331): Show c.485+522_485+523insATCCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(309): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	396	0.0025	316	c.485 others(331): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76050728	G G	GGGGAGTT others(309): Show GGGGAGTTCTATTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19070.hp1 HG03688.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0138 a0001c0001t0002g0090 a0001c0001t0002g0138	2	365	0.0055	316	c.979 others(331): Show c.979-203_979-202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAAAAAAAATAGAACTCCC	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	8/15			chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(309): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT CTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT GTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTGTCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTCTATCTCCTC CCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	202	0.0050	316	c.262 others(335): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTCTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(309): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18993.hp2 NA18998.hp1 others(1): Show NA18957.hp2 NA18993.hp2 NA18998.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0115	4	202	0.0198	316	c.262 others(335): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016172	C C	CTCTATCT others(309): Show CTCTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCATCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	202	0.0050	316	c.262 others(335): Show c.262-28031_262-28030insCTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCATCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(309): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0037 a0001c0007t0002g0037	1	202	0.0050	316	c.262 others(335): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCC CCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCC TCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STAG1_chr3_136331236_136757378	136471120	T T	TAAAAAAA others(309): Show TAAAAAAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	240	0.0042	316	c.120 others(335): Show c.1205+1292_1205+1293insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTTTTTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	12/33			chr3	TogoVar
STAM_chr10_17639151_17721824	17709963	G G	GCAGGATT others(309): Show GCAGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01975.hp1 HG03195.hp1 others(4): Show HG01257.hp2 HG01975.hp1 HG03195.hp1 NA18987.hp1 NA18992.hp1 NA19057.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0070 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0107 a0001c0001t0001g0126	7	426	0.0164	316	c.138 others(335): Show c.1385+1026_1385+1027insTTTTTTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGGATTTTTTTTT	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STK32C_chr10_132202492_132312950	132265174	T T	TGGCTCTG others(309): Show TGGCTCTGGGGGAGCTGCCAGGGCGGCGAGGTGGCTCTGGGGGTGCCTCA AGGGCGGCGAGGTGGCTCTGGGGGTGCCTCAAGGGCGGCGAGGTGGCTCT GGGGGTGCCTCAAGGGCGGCGAGGTGGCTCTGGGGGAGCCGCAAGGGCAG TGAGGTGGGCTCTGGGGGTGCCGCAAGGGCGGTGAGGTGGGCTCTGGGGG AGCCGCAAGGGCGGTGAGGTGGGCTCTGGGGGAGCCGCCAGGGCGGCGAG GTGGGCTCTGGGGGAGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGGTGCC GCAAGGGCGGTGAGGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0355 a0001c0001t0002g0355	1	368	0.0027	316	c.263 others(335): Show c.263-19220_263-19219insCACCTCACCGCCCTTGCGGCACCCCC AGAGCCCACCTCACTGCCCTTGCGGCTCCCCCAGAGCCCACCTCGCCGCC CTGGCGGCTCCCCCAGAGCCCACCTCACCGCCCTTGCGGCTCCCCCAGAG CCCACCTCACCGCCCTTGCGGCACCCCCAGAGCCCACCTCACTGCCCTTG CGGCTCCCCCAGAGCCACCTCGCCGCCCTTGAGGCACCCCCAGAGCCACC TCGCCGCCCTTGAGGCACCCCCAGAGCCACCTCGCCGCCCTTGAGGCACC CCCAGAGCCACCTCGCCGCCCTGGCAGCTCCCCCAGAGCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK3_chr8_98449633_98830688	98478589	G G	GAAAGAAA others(309): Show GAAAGAAAAAAGACCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	170	0.0059	316	c.131 others(337): Show c.1318-22590_1318-22589insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGGTCTTTTTTCTTT	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	10/10			chr8	TogoVar
STPG2_chr4_97553872_98148476	97808772	C C	CAAAAAAG others(309): Show CAAAAAAGACACTAAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGAGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	266	0.0038	316	c.120 others(337): Show c.1204+32000_1204+32001insTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACTCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGGTTTAGTGTCTTTTTT	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	9/10			chr4	TogoVar
STX8_chr17_9245471_9580820	9429860	A A	ATATTATG others(309): Show ATATTATGTATTATATATAATATACATAATATATATAATATATTATATAT ATTATATATAATATATATTATATATTATATATATAATATATTATATATAA TATATATAATATATATTATATATATTATATAATATATATAATATATTATA TATTATATATATTATATATTATATAGAATATATTATATATTATATATATA ATATATTCTATATAATATATATTATATATTATATATTATATATAATATAT TCTATATAATATATAATATATATTATATATATTATATATTATATAGAATA TATTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	188	0.0053	316	c.542 others(335): Show c.542-51208_542-51207insATATATTATATATAATATATTCTATA TAATATATAATATATATAATATATATTATATATTATATAGAATATATTAT ATATAATATATAATATATAATATATATTATATAGAATATATTATATATAT AATATATAATATATTCTATATAATATATAATATATATAATATATAATATA TTATATATATTATATAATATATATAATATATATTATATATATTATATATA ATATATTATATATATAATATATAATATATATTATATATAATATATATAAT ATATTATATATATTATGTATATTATATATAATACATAATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
SUCLG2_chr3_67369719_67659612	67639488	G G	GCCACCAT others(309): Show GCCACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGC GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02630.hp1 others(3): Show HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02965.hp2 HG03540.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0068 a0001c0001t0002g0230 a0001c0001t0003g0070 others(3): Show a0001c0001t0001g0068 a0001c0001t0002g0230 a0001c0001t0003g0070 a0001c0001t0004g0073 a0002c0002t0001g0072 a0002c0002t0003g0255	6	280	0.0214	316	c.84+ others(333): Show c.84+15014_84+15015insGCCGGGCGCGGTGGCTCGCGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGGTGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67639488	G G	GCCACCAT others(309): Show GCCACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0066 a0001c0001t0018g0279 a0001c0001t0004g0066 a0001c0001t0018g0279	2	280	0.0071	316	c.84+ others(333): Show c.84+15014_84+15015insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGGTGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	1/10			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACACACGTATATATATACA CGTGTATATATACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03098.hp2 NA19064.hp1 HG02965.hp2 HG03098.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0235 a0001c0001t0005g0236 a0001c0001t0006g0234 a0001c0001t0002g0235 a0001c0001t0005g0236 a0001c0001t0006g0234	3	392	0.0077	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTG TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATACACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01515.hp1 HG01978.hp2 others(7): Show HG01106.hp2 HG01515.hp1 HG01978.hp2 HG03831.hp2 NA18943.hp1 NA18946.hp1 NA18978.hp1 NA19010.hp2 NA19066.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0109 a0001c0001t0002g0005 a0001c0001t0002g0110 others(6): Show a0001c0001t0001g0109 a0001c0001t0002g0005 a0001c0001t0002g0110 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0176 a0001c0002t0001g0173 a0001c0002t0001g0177	10	392	0.0255	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTG TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACAC GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp2 HG00642.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	392	0.0051	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACACGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19084.hp2 NA19060.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0258 a0001c0001t0002g0259	2	392	0.0051	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACGTGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0252 a0001c0001t0002g0252	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01516.hp1 HG01517.hp2 others(6): Show HG01175.hp1 HG01516.hp1 HG01517.hp2 HG02698.hp1 HG03017.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0004c0011t0004	a0001c0001t0002g0232 a0001c0001t0003g0004 a0001c0001t0003g0114 others(5): Show a0001c0001t0002g0232 a0001c0001t0003g0004 a0001c0001t0003g0114 a0001c0001t0003g0233 a0001c0001t0004g0071 a0001c0001t0004g0278 a0001c0001t0022g0073 a0004c0011t0004g0376	9	392	0.0230	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATATACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CACACGTATATATATACACGTGTATATATACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(309): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACACGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTAT ATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	392	0.0026	316	c.271 others(333): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CGTATATATATACACGTATATATACACACACACGTATATATATACACGTA TATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(309): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	262	0.0038	316	c.101 others(335): Show c.101+72475_101+72476insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SYN2_chr3_11999388_12197032	12095535	G G	GAGACTCT others(309): Show GAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACATCGGCCGGGC ACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCG GATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCC CATCTCTACTGAATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAG GTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCA GCCTGGGCGACGCAGCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG02818.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	264	0.0076	316	c.378 others(335): Show c.378-45110_378-45109insTGTCTCAAAAAAAAAAAAAAAAAAAA AAAAACATCGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGG CTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAAAAAAA GCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACTC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12095535	G G	GAGACTCT others(309): Show GAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACATTGGCCGGGC ACGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCG GATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCC CATCTCTACTGAATATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAG GTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCA GCCTGGGCGACACAGCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 NA18981.hp1 NA20905.hp2 HG00733.hp2 NA18981.hp1 NA20905.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0250 a0005c0005t0002g0259 a0005c0005t0002g0260 a0005c0005t0002g0250 a0005c0005t0002g0259 a0005c0005t0002g0260	3	264	0.0114	316	c.378 others(335): Show c.378-45110_378-45109insTGTCTCAAAAAAAAAAAAAAAAAAAA AAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCACTTTG GGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGG CTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAAAAAAA GCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGATGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGTGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results