Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(394): Show CGGGGGGCGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGA GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGGCG GGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGG GGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGA GGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGA GG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02083.hp1 HG02083.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0037 a0001c0001t0003g0004 a0001c0002t0002g0159 a0001c0001t0001g0037 a0001c0001t0003g0004 a0001c0002t0002g0159	3	27	0.1111	401	c.914 others(420): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCC CCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCTCCTCCCCCTCCCGCC TCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCC GCCTCCTCCCCCTCCCGCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGC others(394): Show GGGGGGGCGGGAAGGAGGGAGGGGGGGGCGGGGGGCCGGGAAGGAGGGAG AAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC CGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGT CGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAA GGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGG CGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTC GC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0145 a0002c0008t0001g0145	1	133	0.0075	401	c.531 others(418): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGCCCC CCCCTCCCTCCTTCCCGCCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX9_chr6_157818246_157950077	157827174	A A	AACATATA others(394): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT AT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	294	0.0034	401	c.12+ others(416): Show c.12+3932_12+3933insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(394): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03927.hp1 HG00642.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0058 a0002c0002t0002g0027 a0002c0002t0002g0058	2	242	0.0083	401	c.12+ others(416): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(394): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGGAGGG GGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGG GAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGG AGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	6	0.1667	401	c.138 others(420): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCC TCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCT CCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCCT CCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(394): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAG GGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGG AGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGA GGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGG AGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	6	0.1667	401	c.138 others(420): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCTCC CCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCC TCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(394): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC AGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGGCGGCGGGGAGAGGG AGGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGGAGGGAGGGTGCAGCAG GGGGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGG GCGTGGGGGGGGAGGGAGGGTGTGGGGGGAGGGAGGGGGGCGGCGGGAGG AGGGAGGGGGGCGGCGGGAGGAGGGAGGGGGCGGCGGGAGGAGGGAGGGG GGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGGCGGCGGGGGG AG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	72	0.0139	401	c.309 others(420): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCC TCCCTCCTCCCGCCGCCCCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCC CCCACACCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCCGCCGCCCCC TCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCCCCCC ATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCCTCCC TCCCCCCACCACCCCCTCCTTTCCCTGCCGTCTCCTCCTTCCCCCCACCA CAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCCCT GCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(394): Show TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCC GCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCCTCCCCCCCACCCATCCCTCCCT CCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACC CATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCAT TCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCCACCCATCC TC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0013 a0001c0001t0009g0025 a0001c0001t0009g0013 a0001c0001t0009g0025	2	62	0.0323	401	c.142 others(422): Show c.1425+16598_1425+16599insACCCCACCCATCCTCCCCTCTGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCCCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC GCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCAT CCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCC CCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCC ACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATC CTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCT CCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(394): Show CACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCC ATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCA CA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19002.hp2 NA19003.hp1 NA18945.hp2 NA19002.hp2 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0260 a0001c0001t0001g0306 a0001c0003t0001g0304 a0001c0001t0001g0260 a0001c0001t0001g0306 a0001c0003t0001g0304	3	108	0.0278	401	c.228 others(418): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTTGTGGG GGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTG TGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TOLLIP_chr11_1269371_1314632	1287395	G G	GCCTCCCC others(394): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACC CTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCACCGC CGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCGCC GCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTC CCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCTGCCGC AC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0272 a0001c0001t0004g0272	1	323	0.0031	401	c.519 others(418): Show c.519+1228_519+1229insGTGCGGCAGGGAGGCTGCGGCGGGGAGG GTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGC GGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGG TGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
ULK4_chr3_41241599_41967103	41891161	G G	GGGAGGGG others(394): Show GGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGA AAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGAC GGGAGGGGGAAGGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGA AAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGAC GGGAGGGGGAAAGAAGGGACGGGAGGGGGGAAGGAAGGGACGGGAGGGGG AAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGA CGGGAGGGGGAAGGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGG AAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGA CA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	37	0.0270	401	c.157 others(420): Show c.1577+4356_1577+4357insTGTCCCTTCCTTCCCCCTCCCGTCCC TTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCC CTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCCTCCCGTCCC TTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCC CCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCC CTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCC CCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCCTCCCGTCC CTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCC CCTCCCGTCCCTTCTTTCCCCCTCC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC5D_chr8_35230475_35801540	35248144	T T	TATATAAT others(394): Show TATATAATATATAAATATATGTTATATAAGATATATAATATATAAATATA TGTTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAA TATATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATA TAAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAA ATATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATA TATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATG TTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATA TATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATATA AG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	54	0.0185	401	c.103 others(420): Show c.103+12262_103+12263insATATATAAATATATGTTATATAAGAT ATATAATATATAAATATATGTTATATAAGATATATAATATATAAATATAT GTTATATAAGATATATAATATATAAATATATGTTATATAAGATATATAAT ATATAAATATATGTTATATAAGATATATAATATATAAATATATGTTATAT AAGATATATAATATATAAATATATGTTATATAAGATATATAATATATAAA TATATGTTATATAAGATATATAATATATAAATATATGTTATATAAGATAT ATAATATATAAATATATGTTATATAAGATATATAATATATAAATATATGT TATATAAGATATATAATATATAAATATATGTTATATAAGATATATAATAT ATAAATATATGTTATATAAGATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8466739	G G	GGGAGGGG others(394): Show GGGAGGGGGGAAGGAGGTGGTGTGTGGGGAGGGAGGAGAGGAGGAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGAG GAAGAGGTGGTGTGTGGGAGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGAAGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG AGGGGAGGGAGGGAGGGGGGGAAGAGGAGGTGTGTGGGGGAGGGAGGGAG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0014 a0004c0005t0014	a0004c0005t0014g0001 a0004c0005t0014g0001	1	270	0.0037	401	c.35 others(410): Show c.356_*357insGGAGGGGGGAAGGAGGTGGTGTGTGGGGAGGGAGGA GAGGAGGAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGGAGGAAGAGGTGGTGTGTGGGAGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGGGGAAGAGGAGGTGAAGTGTGTGGGGAGGGAGGGAGGAA GAGGAGGTGTGTGAGGGGAGGGAGGGAGGGGGGGAAGAGGAGGTGTGTGG GGGAGGGAGGGAGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		230		chrX	TogoVar
ZNF30_chr19_34921903_34950168	34923091	T T	TTGTTATG others(394): Show TTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0016 a0008c0009t0016	a0008c0009t0016g0069 a0008c0009t0016g0069	1	401	0.0025	401	c.-41 others(412): Show c.-4190_-4189insTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTAT ATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTA TATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTG TTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAAC ATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTG TATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATG TTATATTGTATATAACA	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3811		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATACATATCACATATATCATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATGATATATATCATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATACATATCACATATATCAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATACATATCACATATATCATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATGATATATATCATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATACATATCACATATATCAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATCATATATATCATAC AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TCATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCGTACATAT CACATATATCATATATATCATACATATCACATATATGATATATATCATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCGTACATATCACATATATCATATATATCATACATATCACATATA TGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(394): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACATATATCATATATATCATACATAT CACATATATCATATATATCATACATATCACATATATGATATATATCATAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	166	0.0060	401	c.-36 others(412): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACATATATCAT ATATATCATACATATCACATATATCATATATATCATACATATCACATATA TGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370881	T T	TATCATAT others(394): Show TATCATATATATCACATATATGATATATATATCATATATCACATATATGA TATATATATCATATATCACATATATGATATATATATCATATATATCATAT GATATATATCATATATATCACATATATGATATATATCACATGTGATATAT AGCATATATATCATGCTATACATCATATATGATATATATGATATATATCA CGTATGCTATATAGCATATGTGATATATATGATATATATCACATATGCTA TATAGCATATGTGATATATATGATATATATCACATATGCTATATATCATA TGTGATATATATGATATATATCACATATGCTATATATCATATGTGATATA TATCATATATATCACTGATATATATGATATATATCACATATGCTATATAT CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	213	0.0047	401	c.-35 others(412): Show c.-3591_-3590insATCATATATATCACATATATGATATATATATCAT ATATCACATATATGATATATATATCATATATCACATATATGATATATATA TCATATATATCATATGATATATATCATATATATCACATATATGATATATA TCACATGTGATATATAGCATATATATCATGCTATACATCATATATGATAT ATATGATATATATCACGTATGCTATATAGCATATGTGATATATATGATAT ATATCACATATGCTATATAGCATATGTGATATATATGATATATATCACAT ATGCTATATATCATATGTGATATATATGATATATATCACATATGCTATAT ATCATATGTGATATATATCATATATATCACTGATATATATGATATATATC ACATATGCTATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3487		chr10	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(395): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02717.hp1 HG02818.hp1 others(5): Show HG01255.hp1 HG02717.hp1 HG02818.hp1 HG03130.hp1 HG03453.hp2 HG03486.hp1 HG03710.hp1 NA18522.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0022 others(3): Show a0001c0001 a0001c0002 a0001c0022 a0001c0026 a0001c0038 a0008c0059	a0001c0001t0001 a0001c0002t0004 a0001c0002t0021 others(4): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0021 a0001c0022t0001 a0001c0026t0001 a0001c0038t0006 a0008c0059t0004	a0001c0001t0001g0190 a0001c0002t0004g0167 a0001c0002t0021g0170 others(5): Show a0001c0001t0001g0190 a0001c0002t0004g0167 a0001c0002t0021g0170 a0001c0022t0001g0023 a0001c0026t0001g0278 a0001c0026t0001g0279 a0001c0038t0006g0177 a0008c0059t0004g0193	8	226	0.0354	402	c.130 others(421): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(395): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATA AATATATCAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0007 a0007	a0007c0037 a0007c0037	a0007c0037t0007 a0007c0037t0007	a0007c0037t0007g0189 a0007c0037t0007g0189	1	219	0.0046	402	c.130 others(421): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATAT ATTTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288215	T T	TCCGTCCC others(395): Show TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	250	0.0040	402	c.53 others(413): Show c.5348_*5349insGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGG GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGGGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4175		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288327	T T	TCCCGTGT others(395): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCG TCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	282	0.0035	402	c.52 others(413): Show c.5236_*5237insGGACGGAGCAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGG GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGG ACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4063		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289747	C C	CCGTGTCT others(395): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCCCTG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCTCTGCTC CAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	275	0.0036	402	c.38 others(413): Show c.3816_*3817insATGGAGCAGAGACACGGGGGACGGAGCAGACACG GGGGACGGAGCAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGGG ACGGAGCAGAGACACGGGACAGGGCAGAGACACGGGGGACGGAGCAGACA CGGGGGACGGAGCAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGG ACGGAGCAGACACGGGGGACGGAGCAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2643		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289922	C C	CCCGTCCC others(395): Show CCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0046 a0001c0013t0001g0046	1	163	0.0061	402	c.36 others(413): Show c.3641_*3642insAGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG GGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGG GGCAGAGACACGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2468		chr1	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(395): Show GGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGACGGAGACGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0015 a0015	a0015c0080 a0015c0080	a0015c0080t0007 a0015c0080t0007	a0015c0080t0007g0064 a0015c0080t0007g0064	1	236	0.0042	402	c.523 others(421): Show c.523-13463_523-13462insAGAGGGAGACGGAGAGGGAGAGGGAG ACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(395): Show GGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGACGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0007 a0004c0010t0007	a0004c0010t0007g0067 a0004c0010t0007g0067	1	236	0.0042	402	c.523 others(421): Show c.523-13463_523-13462insAGAGGGAGACGGAGAGGGAGAGGGAG ACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS2_chr5_179105853_179350461	179277946	C C	CGGCTGAC others(395): Show CGGCTGACGCCCCCGCGAGACCAAAGGCTGACCCCCTCCAAGACCAAAGG CTGACACCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGA CCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCC CCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCC CCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCG AGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCG AGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAG ACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACC AAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02922.hp1 HG02723.hp2 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0070 a0003c0008 a0001c0070 a0003c0008	a0001c0070t0001 a0003c0008t0001 a0001c0070t0001 a0003c0008t0001	a0001c0070t0001g0081 a0003c0008t0001g0149 a0001c0070t0001g0081 a0003c0008t0001g0149	2	87	0.0230	402	c.535 others(419): Show c.535-4883_535-4882insTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTC GGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTC GCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGG GGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGG GGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTC AGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTTGGAGGGGGTCAGCC TTTGGTCTCGCGGGGGCGTCAGCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRD1_chr12_130948907_131146469	131046171	T T	TCCTGGTC others(395): Show TCCTGGTCAATGCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGTCCT CCCTGGTCAATGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCT CCCTGGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTC CTCCCTGTTCAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTG TCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTC CTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTC CTCCGTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCT CCCTGGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTC CTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0095 a0001c0004t0005g0095	1	240	0.0042	402	c.147 others(423): Show c.1474-30601_1474-30600insTCCTCCCTGGTCAGTGTCCTCCCT GGTCAATGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTACTCCCTCCCT GGTCAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCC CTGTTCAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCT CCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCC CTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCC GTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCT GGTCAGTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCC CTGGTCAATGCTCCCTCCCTGGTCAGTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131046282	A A	ATGCTCCC others(395): Show ATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGTT CAGTGCTCCCTCCCTGTTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTG GTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGT CAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCGTGGT CAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGTCCTCCCTGGTCA GTGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTGGT CAATGCTCCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGTCCTCCCTT GTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAGTGTCCTCCTGGT CAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0042 a0001c0003t0045g0042	1	240	0.0042	402	c.147 others(423): Show c.1474-30472_1474-30471insTTCAGTGCTCCCTCCCTGTTCAGT GCTCCCTCCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCTCCCTGGTCAG TGTCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGT GTCCTCCCTTGTCAGTGTCCTCCGTGGTCAGTGCTCCTCCCTGGTCAGTG TCCTCCTGGTCAGTGTCCTCCCTGGTCAGTGCTCCCTCCCTGGTCAGTGC TCCCTCCCTGGTCAGTGTCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGT GCTCCCTCCCTGGTCAGTGTCCTCCCTTGTCAGTGTCCTCCCTGGTCAGT GCTCCTCCCTGGTCAGTGTCCTCCTGGTCAGTGCTCCCTCCCTGGTCAGT GCTCCCTCCCTGGTCAGTGTCCTCCCTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131128965	G G	GGCCCTGC others(395): Show GGCCCTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGAGTGT GAGTGACAGGCCCGCCCTGCTGTCTGGTGTGAGTGACAGCCCCGCCCTGC TGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAGTGACA GGCCGGCCCTCCTGTCTGGGTGTGAGTGGCAGCCCCGCCCTGCTGTCTGG GTGTGAGTGACAGGCCTGCCCTCCTGTCTGGGTGTGAGTGACAGGCCGGC CCTCCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGGTGTGAG TGACAGCCCCGCCCTGCTGTCTGGGTGTGAGTGACAGCCCCGCCCTGCTG TCTGGGTGTGAGTGACAGCCCCGCCCTGCTGTCTGGGTGTGAGTGACAGG CCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0038 a0002c0032t0038	a0002c0032t0038g0090 a0002c0032t0038g0090	1	240	0.0042	402	c.217 others(421): Show c.2176-2755_2176-2754insGCTGTCTGGGTGTGAGTGACAGGCCC GCCCTGCTGTCTGAGTGTGAGTGACAGGCCCGCCCTGCTGTCTGGTGTGA GTGACAGCCCCGCCCTGCTGTCTGGGTGTGAGTGACAGGCCCGCCCTGCT GTCTGGGTGTGAGTGACAGGCCGGCCCTCCTGTCTGGGTGTGAGTGGCAG CCCCGCCCTGCTGTCTGGGTGTGAGTGACAGGCCTGCCCTCCTGTCTGGG TGTGAGTGACAGGCCGGCCCTCCTGTCTGGGTGTGAGTGACAGGCCCGCC CTGCTGTCTGGGTGTGAGTGACAGCCCCGCCCTGCTGTCTGGGTGTGAGT GACAGCCCCGCCCTGCTGTCTGGGTGTGAGTGACAGCCCCGCCCTGCTGT CTGGGTGTGAGTGACAGGCCTGCCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(395): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0019 a0003c0003t0004g0019	1	123	0.0081	402	c.-1- others(417): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(395): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	123	0.0081	402	c.-1- others(417): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGA AGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(395): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0164 a0005c0005t0001g0164	1	123	0.0081	402	c.-1- others(417): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(395): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	123	0.0081	402	c.-1- others(417): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(395): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	123	0.0081	402	c.-1- others(417): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG6_chr6_142297007_142451261	142318118	T T	TTTATATA others(395): Show TTTATATAATATATATTTATATATTATATATTTATATAATATATATTTAT ATATTATATATTTATATAATATATATTTCTATATTATATATTTATATAAT ATATATTTCTATATTATATATTTATATAATATATATTTCTATATTATATA TTTATATAATATATATTTCTATATTATATATTTATATAATATATATTTCT ATATTATATATTTATATAATATATATTTCTATATTATATATTTATATAAT ATATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTATA TATTATATATTTATATAATATATATTATATATTATATATTTATATAATAT ATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0250 a0001c0001t0018g0250	1	226	0.0044	402	c.103 others(419): Show c.103+8475_103+8476insTATATAATATATATTTATATATTATATA TTTATATAATATATATTTATATATTATATATTTATATAATATATATTTCT ATATTATATATTTATATAATATATATTTCTATATTATATATTTATATAAT ATATATTTCTATATTATATATTTATATAATATATATTTCTATATTATATA TTTATATAATATATATTTCTATATTATATATTTATATAATATATATTTCT ATATTATATATTTATATAATATATATTTATATATTATATATTTATATAAT ATATATTTATATATTATATATTTATATAATATATATTTATATATTATATA TTTATATAATATATATTATATATTATATATTTATATAATATATATTATAT ATTATATATTTATATAATATATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATATACA others(395): Show TATATACACGTATATACGTATACGTGTACACACATATATATACACGTATA TATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACACGTATATACGTATACGTGTACACACACATACACGTATACACGTC TACGTGTACACACATATACACGTCTACGTGTACACACATATACACGTATA CGTCTACGTGTACACACATATACACGTATACGTCTACGTGTACACACATA TAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	63	0.0159	402	c.48- others(419): Show c.48-70583_48-70582insTATACACGTATATACGTATACGTGTACA CACATATATATACACGTATATATACGTATACGTGTACACACACACACGTA TATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACA CACACACGTATATATACGTATACGTGTACACACACACGTATATATACGTA TACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACACA CACATACACGTATACACGTCTACGTGTACACACATATACACGTCTACGTG TACACACATATACACGTATACGTCTACGTGTACACACATATACACGTATA CGTCTACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581451	T T	TATATACG others(395): Show TATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACACGTATATACGTATACGTGTACACACACATACA CGTATATACGTATACGTGTACACACATATACACGTATACGTGTACACACA TATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATA TAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	154	0.0065	402	c.48- others(419): Show c.48-70547_48-70546insTATACGTATACGTGTACACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(395): Show GAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCA GGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAG GAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGA GGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGG AGCAGGAGCAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAG GAGGAGGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGGA GGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGA AGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0014 a0002c0028t0001g0014	1	45	0.0222	402	c.667 others(421): Show c.667+88884_667+88885insGCTTCTGCTTCTGCTTCTGCTCCTGC TCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCCTG CTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCT CCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCC TGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTG CTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT CCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGC TCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTC CTCCTCCTCCTGCTCCTGCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729624	A A	AGGAGGAG others(395): Show AGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGG GAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAG GGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGAGGAGGAGAGGGGA GTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGTCGACGAG TGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGG AGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAG AAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGC GAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGGAGGGGAGGGGAGGGG GAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0181 a0009c0015t0001g0181	1	345	0.0029	402	c.248 others(417): Show c.2483+54_2483+55insCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTT CCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCTC CCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCC ACCCCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACCT TCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCG TCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCC TTCCACTCCCCTCACCTCCTCC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
APOOL_chrX_84998877_85098315	85088071	C C	CGTATTTA others(395): Show CGTATTTATACATATATGTATAAATACGTATTTATGTATAAATACGTATT TATACATATATGTATAAATACGTATTTATACATATATGTATAAATACGTA TTAATACATATATGTATAAATACGTATTAATACATATATGTATAAATACA TACATATTTATACATATATGTATACATACATATTTATACATATATATGTA TAAATACATATTTATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATACATATTTATACATATA TATGTATAAATACATACATATTTATACATATATGTATAAATACATATACA TAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0219 a0001c0001t0016g0219	1	221	0.0045	402	c.39 others(411): Show c.393_*394insGTATTTATACATATATGTATAAATACGTATTTATGT ATAAATACGTATTTATACATATATGTATAAATACGTATTTATACATATAT GTATAAATACGTATTAATACATATATGTATAAATACGTATTAATACATAT ATGTATAAATACATACATATTTATACATATATGTATACATACATATTTAT ACATATATATGTATAAATACATATTTATACATATATATGTATAAATACAT ACATATTTATACATATATATGTATAAATACATACATATTTATACATATAT ATGTATAAATACATACATATTTATACATATATATGTATAAATACATACAT ATTTATACATATATATGTATAAATACATACATATTTATACATATATGTAT AAATACATATACATAT	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394		chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1824808	T T	TTCCCCCT others(395): Show TTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTCTTCCCCACACCCCACCTGTCCCCCCGCACCCCACCTG TTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTCTTCCCCACACCCCACCTGTCCCCCCGCACCCCACCTG TTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTCTTCCCCACACCCCACCTGTCCCCTCG CACCCCACCTGTTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCAC CTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0084 a0001c0003t0020g0084	1	306	0.0033	402	c.-48 others(417): Show c.-48+722_-48+723insCCGCACCCCACCTGTCCCCCTGCACCCCAC CTGTCTTCCCCACACCCCACCTGTCCCCCCGCACCCCACCTGTTCCCCCT GCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCAC CTGTCTTCCCCACACCCCACCTGTCCCCCCGCACCCCACCTGTTCCCCCT GCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCAC CTGTTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCC CTGCACCCCACCTGTCTTCCCCACACCCCACCTGTCCCCTCGCACCCCAC CTGTTCCCCCTGCACCCCACCTGTCTTCCCCCCGCACCCCACCTGTCCCC CTGCACCCCACCTGTCTTCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB5_chr4_176208673_176274222	176218377	A A	ATTTGTAT others(395): Show ATTTGTATGACATATAAATATATATATTTGTATGACATATAAATATATAT ATTTGTATGACATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATATAT ATTTGTATGATATATAAATATATATATGTATGATATATAAATATATATAT TTGTATGATATATAAATATATATATTTGTATGATATATAAATATATATAT TTGTATGATATATAAATATATATATATTTGTATGATATATAAATATATAT ATATTTGTATGATATATAAATATATATATTTGTATGATATACAAATATAT ATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	311	0.0032	402	c.671 others(419): Show c.671-1369_671-1368insAATATATATTTGTATATCATACAAATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAA ATATATATATTTATATATCATACAAATATATATATTTATATATCATACAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATATCATACAAATATATATATTTATATATCATACAAAT ATATATATTTATATGTCATACAAATATATATATTTATATGTCATACAAAT ATATATATTTATATGTCATACAAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(395): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	109	0.0092	402	c.784 others(417): Show c.784-574_784-573insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BCHE_chr3_165767904_165842423	165797258	T T	TTCGTTCT others(395): Show TTCGTTCTTCCCTCCCTTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCTT CCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTTCCTTCTTTCTTCCCT CCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCT TCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCT CCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTT CCCTCCCTCCTTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCTTCCTTCTTCCCTCCCTCCTTCCTCCCTCCCTCCCC CCC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	27	0.0370	402	c.151 others(423): Show c.1518-10948_1518-10947insGGGGGGGAGGGAGGGAGGAAGGAG GGAGGGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGA GGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAGGAAGGAGGGAGGGAG GAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGAAGGAGGGAGGGAAGAAAGAAGGAAGGGA GGGGGGAGGGAGGGAAGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGGA GGGAAGGAAGGAAGGGAGGGAAGAACGA	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar
C11orf65_chr11_108377755_108472529	108408674	T T	TAAATAAC others(395): Show TAAATAACATAACATAACATAACATAACATAACATAACATAACATAACAT AACATAACATAACAAACATAACATAACATAACATAACATAACATAACATA ACATAACATAAAATAACATAACATAAAATAAAATAACATAAAATAAAATA ACATAAAATAAAATAACATAAAATAAAATAACATAAAATAAAATAACATA AAATAAAATAACATAAAATAAAATAACATAAAATAAAATAACATAAAATA AAATAACATAAAATAAAATAACATAAAATAAAATAACATAAAATAACATA AAATAACATAAAATAACATAAAATAACATAAAATAACATAAAATAAAATA AATAACATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAA ATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	230	0.0043	402	c.175 others(419): Show c.175-1526_175-1525insTATTTTATTTTATTTTATTTATTTTATT TTATTTTATTTTATTTTATGTTATTTATTTTATTTTATGTTATTTTATGT TATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATTT TATGTTATTTTATTTTATGTTATTTTATTTTATGTTATTTTATTTTATGT TATTTTATTTTATGTTATTTTATTTTATGTTATTTTATTTTATGTTATTT TATTTTATGTTATTTTATTTTATGTTATTTTATTTTATGTTATTTTATTT TATGTTATGTTATTTTATGTTATGTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTTGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATTT	C11orf65	ENSG00000166323.13	transcript	ENST00000393084.6	protein_coding	3/8			chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(395): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGG TGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGT GATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGG TGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	55	0.0182	402	c.21 others(417): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCATCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCATCATCACCATCA CCACCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCATCACCACCAT CATCACCATCACCACCATCATCACCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCACCATCACCACCACCACCATCACCACCATC ATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar

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