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
SCAMP1_chr5_78355617_78485739	78430269	A A	AATACAGT others(198): Show AATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTT ATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATAC AGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTA TAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTAT TTATTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp2 HG03098.hp1 others(4): Show HG00558.hp2 HG02145.hp2 HG03098.hp1 HG03209.hp2 NA18966.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0273 others(4): Show a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0283 a0001c0001t0003g0320 a0001c0001t0004g0317	7	274	0.0255	205	c.632 others(222): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACACTCA others(198): Show CACACTCACCCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCAC CCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	313	0.0032	205	c.127 others(224): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCTGTTGGGGTGAGTGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839800	C C	CACACTCA others(198): Show CACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCTGCACCCTCAC CCCAACAGCACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGC ACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCCACACCCTCACCCCAACAGCACACATGGGCCCCGATTT CTCCGT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0307 a0001c0003t0001g0307	1	313	0.0032	205	c.127 others(224): Show c.127-22094_127-22093insACGGAGAAATCGGGGCCCATGTGTGC TGTTGGGGTGAGGGTGTGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGT GAGGGTGCGGAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCA GAGAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCAGAGAAATCG GGGCCCATGTGTGCCGTTGGGGTGAGTGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124839966	C C	CCCTCGCC others(198): Show CCCTCGCCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCGCCC CAACGGCACACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCT CCGCAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03710.hp1 HG01106.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0152 a0001c0002t0003g0153 a0001c0001t0001g0152 a0001c0002t0003g0153	2	337	0.0059	205	c.127 others(224): Show c.127-22260_127-22259insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTG CGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGCGAGGGTGCGGAGAAAT CGGGGCCCATGTGTGCCGTTGGGGCGAGG	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840007	C C	CACTCACC others(198): Show CACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCC CAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCAC ACATGGGCCCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCC CCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCT CCGCAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18942.hp1 HG01081.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0171 a0001c0003t0002g0069 a0001c0001t0001g0171 a0001c0003t0002g0069	2	256	0.0078	205	c.127 others(224): Show c.127-22301_127-22300insATGCGGAGAAATCGGGGCCCATGTGT GCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGG GTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATG CGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAAT CGGGGCCCATGTGTGCCGTTGGGGTGAGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(44): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01256.hp2 HG01258.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp2 HG03486.hp1 HG03491.hp2 HG03927.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18948.hp1 NA18975.hp2 NA18983.hp1 NA18985.hp1 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19080.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0020 a0002c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0007t0001 a0001c0007t0005 a0001c0010t0003 a0001c0020t0003 a0002c0006t0002 a0002c0006t0005 a0004c0011t0002	a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 others(44): Show a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0145 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0228 a0001c0001t0001g0318 a0001c0001t0002g0229 a0001c0001t0002g0253 a0001c0001t0003g0257 a0001c0001t0004g0155 a0001c0001t0005g0057 a0001c0001t0006g0041 a0001c0002t0001g0147 a0001c0002t0001g0189 a0001c0002t0001g0211 a0001c0002t0001g0217 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0005g0255 a0001c0002t0009g0051 a0001c0002t0009g0054 a0001c0002t0009g0055 a0001c0003t0001g0215 a0001c0003t0002g0056 a0001c0003t0002g0136 a0001c0003t0002g0149 a0001c0003t0002g0160 a0001c0003t0002g0187 a0001c0003t0002g0192 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0214 a0001c0003t0002g0273 a0001c0003t0002g0317 a0001c0003t0007g0274 a0001c0007t0001g0107 a0001c0007t0001g0150 a0001c0007t0005g0191 a0001c0010t0003g0259 a0001c0020t0003g0343 a0002c0006t0002g0017 a0002c0006t0005g0018 a0004c0011t0002g0210 a0004c0011t0002g0250	47	67	0.7015	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGTGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACAC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18983.hp2 NA19066.hp2 others(1): Show HG00639.hp2 NA18983.hp2 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001	a0001c0001t0002g0096 a0001c0002t0001g0177 a0001c0003t0002g0103 others(1): Show a0001c0001t0002g0096 a0001c0002t0001g0177 a0001c0003t0002g0103 a0001c0004t0001g0099	4	24	0.1667	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CGGCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01361.hp1 HG03130.hp1 others(1): Show HG01069.hp1 HG01361.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0173 a0001c0001t0003g0038 a0001c0001t0003g0239 others(1): Show a0001c0001t0001g0173 a0001c0001t0003g0038 a0001c0001t0003g0239 a0001c0001t0008g0330	4	24	0.1667	205	c.127 others(224): Show c.127-22318_127-22317insATGCCGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGATGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCACGCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACCCTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CAGCAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0006 a0001c0018t0006	a0001c0018t0006g0340 a0001c0018t0006g0340	1	21	0.0476	205	c.127 others(224): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGCGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB1_chr12_124771856_124868864	124840024	C C	CACATGGG others(198): Show CACATGGGCCCCGATTTCTCCGCACCCTCACCCCAACGGCACACATGGGC CCCGATTTCTCCGCATCCTCACCCCAACGGCACACATGGGCCCCGATTTC TCCGCACACTCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCACCC TCACCCCAACGGCACACATGGGCCCCGATTTCTCCGCATCCTCACCCCAA CAGCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19240.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0015 a0001c0005t0001 a0001c0004t0015 a0001c0005t0001	a0001c0004t0015g0059 a0001c0005t0001g0350 a0001c0004t0015g0059 a0001c0005t0001g0350	2	22	0.0909	205	c.127 others(224): Show c.127-22318_127-22317insATGCTGTTGGGGTGAGGATGCGGAGA AATCGGGGCCCATGTGTGCCGTTGGGGTGAGGGTGCGGAGAAATCGGGGC CCATGTGTGCCGTTGGGGTGAGTGTGCGGAGAAATCGGGGCCCATGTGTG CCGTTGGGGTGAGGATGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGG TGAGGGTGCGGAGAAATCGGGGCCCATGT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCRIB_chr8_143785925_143820773	143808399	A A	AGTCCAAG others(198): Show AGTCCAAGCATGGACTGAGACCAACGCCAGGGCAGGCCTGGAGTCCAAGC ATGGACTGAGACCAACGCCAGGGCAGGCCTGGGGTCCAAGCATGGACTGA GACCAATGCCAGGGCAGGCCTGGAGTCCAAGCATGGACTGAGACCAACGC CAGGGCAGGCCTGGGGTCCAAGCATGGACTGAGACCAACGCCAGGGCAGG CCTGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp2 HG01070.hp2 others(6): Show HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG03834.hp1 HG04184.hp2 NA18972.hp1 NA18974.hp1 NA19056.hp2	a0002 a0004 a0015 a0002 a0004 a0015	a0002c0030 a0004c0007 a0015c0072 a0002c0030 a0004c0007 a0015c0072	a0002c0030t0001 a0004c0007t0001 a0015c0072t0001 a0002c0030t0001 a0004c0007t0001 a0015c0072t0001	a0002c0030t0001g0062 a0004c0007t0001g0034 a0004c0007t0001g0217 others(3): Show a0002c0030t0001g0062 a0004c0007t0001g0034 a0004c0007t0001g0217 a0004c0007t0001g0218 a0004c0007t0001g0220 a0015c0072t0001g0219	9	177	0.0508	205	c.211 others(222): Show c.2115+209_2115+210insCCCAGGCCTGCCCTGGCGTTGGTCTCAG TCCATGCTTGGACCCCAGGCCTGCCCTGGCGTTGGTCTCAGTCCATGCTT GGACTCCAGGCCTGCCCTGGCATTGGTCTCAGTCCATGCTTGGACCCCAG GCCTGCCCTGGCGTTGGTCTCAGTCCATGCTTGGACTCCAGGCCTGCCCT GGCGTTGGTCTCAGTCCATGCTTGGAC	SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding	15/36			chr8	TogoVar
SEPTIN7_chr7_35796057_35912110	35814055	T T	TAAAAGTT others(198): Show TAAAAGTTGGAGAGTATTATACAAAAAATTAGCCGGGCGCGGTGGCGGGC GCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCA GTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp1 HG01257.hp1 others(12): Show HG00738.hp1 HG01081.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp2 HG02602.hp2 HG02976.hp2 HG03239.hp2 HG03669.hp2 HG03942.hp1 HG04204.hp1 NA18969.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0026 others(2): Show a0001c0001t0005 a0001c0001t0020 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037	a0001c0001t0005g0013 a0001c0001t0005g0191 a0001c0001t0005g0201 others(11): Show a0001c0001t0005g0013 a0001c0001t0005g0191 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0020g0008 a0001c0001t0026g0203 a0001c0001t0036g0200 a0001c0001t0037g0205	15	336	0.0446	205	c.61+ others(222): Show c.61+12802_61+12803insATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGACCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAA AAAAAAAAAAAAAAGTTGGAGAGTATT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169680	T T	TGTATATT others(198): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAACATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATATTATATAATATATTGTATATTATATAT TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	282	0.0035	205	c.-15 others(216): Show c.-1543_-1542insTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATAATATATAATATACAATATATTATATA ATATATAATATACAATATATTATATATAATATACAATATATTATATATAA TATACAATATGTTATATATAATATACAATATACAATATATTATATAATAT ACAATATATTATATAATATAC	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1419		chr6	TogoVar
SGCZ_chr8_14079845_15243431	15012554	A A	ATATATAA others(198): Show ATATATAACATATAAATATATATTTATATAACATATAAATATATATTTAT ATAACATATAAATATATATTTATATAACATATAAATATATATTTATATAA CATATAAATATATATTTATATAACATAAATATATATTTATATAACATATA AATATATATTTATATAACATATAAATATATATTTATATAACATATAAATA TATATT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	75	0.0133	205	c.39+ others(224): Show c.39+225030_39+225031insAATATATATTTATATGTTATATAAAT ATATATTTATATGTTATATAAATATATATTTATATGTTATATAAATATAT ATTTATGTTATATAAATATATATTTATATGTTATATAAATATATATTTAT ATGTTATATAAATATATATTTATATGTTATATAAATATATATTTATATGT TATATAAATATATATTTATATGTTATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGSM1_chr22_24801211_24932578	24900391	C C	CTTTCTTT others(198): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTC CTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTTCTTT CTTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	334	0.0030	205	c.261 others(224): Show c.2611-1425_2611-1424insCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCT TTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTT CTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCTTCCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGTA_chr19_2749715_2788273	2773298	A A	ATGGGTGA others(198): Show ATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACA GGGCAGGGACACCGAGGGCAGAGATGGGTGACGCGGCCACACGGCGGGGA CACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGG CAGAGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	322	0.0031	205	c.-23 others(222): Show c.-23-4208_-23-4207insCCTCTGCCCTCGGTGTCCCTGCCGTGTG GCCGCGTCACCCACCTCTGCCCTCGGTGTCCCCGCCGTGTGGCCGCGTCA CCCATCTCTGCCCTCGGTGTCCCTGCCCTGTGGCCGCGTCACCCATCTCT GCCCTCGGTGTCCCTGCCGTGTGGCCGCGTCACCCACCTCTGCCCTCGGT GTCCCCGCCGTGTGGCCGCGTCACCCA	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(198): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	181	0.0055	205	c.165 others(222): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	410945	G G	GGGAGGGG others(198): Show GGGAGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGG TGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGA CCATGTCTGGATACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGG ATACAGTCGGTGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATACA GTCGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	236	0.0042	205	c.-15 others(222): Show c.-153-919_-153-918insACCGACTGTATCCAGACATGGTCAGAGC TGGGCACCCCCCCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGC ACCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCGAC TGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGCCGACTGTATCCAGA CATGGTCAGAGCTGGGCACCCCCCTCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC25A13_chr7_96115220_96327098	96166256	A A	AATACCCT others(198): Show AATACCCTGGACCCATTATCAAAGGACCATAGTTTAAAAAACATGTTAAT TTGTCTTTCCAAAAATTACTACACAATACTATTACTTTCTCTTGTTATAT AAACAGTTTTTACTAAATATGGCTTTATAAGACAGATGTTCATACTTTCA TGACTTTCTTTCTTAGTAATATTAGATTTATTTTCAGGCCAAATAAATTA ATCATC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	274	0.0036	205	c.131 others(224): Show c.1311+3584_1311+3788dupGATGATTAATTTATTTGGCCTGAAAA TAAATCTAATATTACTAAGAAAGAAAGTCATGAAAGTATGAACATCTGTC TTATAAAGCCATATTTAGTAAAAACTGTTTATATAACAAGAGAAAGTAAT AGTATTGTGTAGTAATTTTTGGAAAGACAAATTAACATGTTTTTTAAACT ATGGTCCTTTGATAATGGGTCCAGGGTAT	SLC25A13	ENSG00000004864.14	transcript	ENST00000265631.10	protein_coding	13/17			chr7	TogoVar
SLC2A8_chr9_127392169_127412898	127409324	A A	AAGATGAT others(198): Show AAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATG GGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGG GGGGAGATGATGGAGAGGTGGGGGAGATGATGGAGAGGTGGGGGGAGATG ATGGAGAGGTGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGG TGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02683.hp2 HG03490.hp1 others(3): Show HG01361.hp2 HG02683.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0002g0090	6	336	0.0179	205	c.20 others(216): Show c.2075_*2076insAGATGATGGGGAGGTGGGGGGAGATGATGGAGAG GTGGGGGAGATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAG ATGATGGGGAGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGAG AGGTGGGGGGAGATGATGGAGAGGTGGGGGAGATGATGGGGAGGTGGGGG GAGATGATGGAGAGGTGGGGG	SLC2A8	ENSG00000136856.18	transcript	ENST00000373371.8	protein_coding		1427		chr9	TogoVar
SLC35A1_chr6_87467974_87517336	87507828	C C	CGGCTAAT others(198): Show CGGCTAATTTTTGTATTTTTGTAGAGACAGGTTTTCGCCCTGGTGGCCAG GCTGGTTTCGAACTTCTGGCCTCAGGTGATCCACCCACATCGGCCTCCCA AAATGCTAGATTACAGGGATGAACTGCCATGCCCGGCCAACTTTAAGTTT TAAATTGGATGTCGAAGAGTGCGTGGAAGAACAGAAGCAGTCAGATAATA GAATTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00738.hp2 others(16): Show HG00323.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01346.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG02451.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG03710.hp2 NA18944.hp1 NA18945.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0035 others(13): Show a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0204 a0001c0001t0002g0209 a0001c0001t0007g0033 a0001c0001t0009g0035	19	396	0.0480	205	c.575 others(220): Show c.575-592_575-591insGGCTAATTTTTGTATTTTTGTAGAGACAGG TTTTCGCCCTGGTGGCCAGGCTGGTTTCGAACTTCTGGCCTCAGGTGATC CACCCACATCGGCCTCCCAAAATGCTAGATTACAGGGATGAACTGCCATG CCCGGCCAACTTTAAGTTTTAAATTGGATGTCGAAGAGTGCGTGGAAGAA CAGAAGCAGTCAGATAATAGAATTG	SLC35A1	ENSG00000164414.19	transcript	ENST00000369552.9	protein_coding	5/7			chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140387743	T T	TTATATAA others(198): Show TTATATAAATATATATTATATATTATATATAAATATAAATATATTATATA TATTATATATAATATAAATATATTATATATATTATATATAAATATAAATA TATTATATATATTATATATAAATATAAATATATTATATATATTATATATA ATATATAAATATATTATATATATTATATATAATATATAAATATATTATAT ATATTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	286	0.0035	205	c.-70 others(222): Show c.-70-5148_-70-5147insTAATATATATAATATATTTATATATTAT ATATAATATATATAATATATTTATATATTATATATAATATATATAATATA TTTATATTTATATATAATATATATAATATATTTATATTTATATATAATAT ATATAATATATTTATATTATATATAATATATATAATATATTTATATTTAT ATATAATATATAATATATATTTATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A11_chr3_10811228_10945714	10873404	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTAT CCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18985.hp2 HG01074.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0004 a0001c0001t0001 a0001c0007t0004	a0001c0001t0001g0307 a0001c0007t0004g0076 a0001c0001t0001g0307 a0001c0007t0004g0076	2	355	0.0056	205	c.757 others(222): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTAT CCTACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTAT CCTATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01952.hp2 HG02683.hp1 others(2): Show HG01123.hp2 HG01952.hp2 HG02683.hp1 HG02970.hp2 NA18973.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0005c0025	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0005c0025t0002	a0001c0001t0001g0221 a0001c0001t0001g0301 a0001c0002t0002g0077 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0301 a0001c0002t0002g0077 a0001c0003t0001g0051 a0005c0025t0002g0316	5	321	0.0156	205	c.757 others(222): Show c.757-1528_757-1527insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTATCCT ATGCTATCCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC6A11_chr3_10811228_10945714	10873409	C C	CCTATCCT others(198): Show CCTATCCTATCCTATCCTATGGCATGCCATCCTACCCTACCCTATCCTAC ACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCTAT CCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCTAT CCTATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	317	0.0032	205	c.757 others(222): Show c.757-1533_757-1532insGGCATGCCATCCTACCCTACCCTATCCT ACACTATCCTATCCTATCCTATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATGCTATCCTATCCTATCCTATGCTATCCTATCCTATCCT ATCCTATCCTATCCTATGCCATGCCATGCCATGCCATCCTATCCTATCCT ATCCTATGCTATCCTATCCTATCCTAT	SLC6A11	ENSG00000132164.10	transcript	ENST00000254488.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(198): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	358	0.0028	205	c.152 others(222): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A1_chr13_29504414_29600688	29558730	G G	GTGAGGGG others(198): Show GTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGG AGTGAATGTGAGTGAGGGGGAGTGAATGTGAATGAGGGGGAGTGAATGTG AGTGACGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGTGG AGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGT GAATGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	193	0.0052	205	c.-11 others(224): Show c.-114-4871_-114-4870insTCATTCACATTCACTCCCCCCTCACT CACATTCACTCCCCCTCACTCACATTCTCTCCACCTCACTCACATTCACT CCCCCTCACTCACATTCACTCCCCGTCACTCACATTCACTCCCCCTCATT CACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACT CCCCCTCACTCACATTCACTCCCCCCTCA	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SMOC2_chr6_168436184_168672992	168654473	T T	TACCTGAG others(198): Show TACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGC TCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAG ATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGA ACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAA CCCTGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02004.hp1 HG02970.hp2 others(2): Show HG00558.hp2 HG02004.hp1 HG02970.hp2 NA18939.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0151 a0001c0001t0003g0169 a0001c0002t0002g0029	5	106	0.0472	205	c.128 others(224): Show c.1285+1261_1285+1262insGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGAT GTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAAC TCACCAACCCTGCACCTGAGCTCCAACCA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168655005	G G	GCACCTGA others(198): Show GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0106 a0001c0001t0003g0107	2	178	0.0112	205	c.128 others(224): Show c.1285+1981_1285+1982insACACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168655046	G G	GCACCTGA others(198): Show GCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAG CTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCA GATGTTAGGAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGG AACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCA ACCCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp1 HG01069.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0090 a0001c0001t0003g0109	2	168	0.0119	205	c.128 others(224): Show c.1285+2022_1285+2023insACACCTGAGCTCCAACCAGATGTTAG GAACTCACCAACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACC AACCCTGCACCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCA CCTGAGCTCCAACCAGATGTTAGGAACTCACCAACCCTGCACCTGAGCTC CAACCAGATGTTAGGAACTCACCAACCCT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1222536	T T	TGCTGGAC others(198): Show TGCTGGACCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCT GTCCTGCTGTGGAGGTGCTGGACCGCTGTAGAGGAAGGCGGTGCAGTGAT GGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTA GAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCT GGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	185	0.0054	205	c.719 others(224): Show c.719+13312_719+13313insCCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCTGTGGAGGTGCTGGACCGCTGTAGAG GAAGGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGGGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(198): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATTATATAAC ATGATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18986.hp1 HG04115.hp2 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0013 a0001c0002t0007 a0001c0004t0013	a0001c0002t0007g0175 a0001c0004t0013g0343 a0001c0002t0007g0175 a0001c0004t0013g0343	2	55	0.0364	205	c.-11 others(226): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATTATATAACATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(198): Show CCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTC CCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCCTCCCGCTTTCCAACCC CTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	205	c.54 others(216): Show c.5407_*5408insAGAGAGGGGTTGGAAAGCGGGAGGGGGGAGGGAG AGGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGG GAGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG GGGAGGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(198): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAG GGGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	6	0.1667	205	c.138 others(224): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRRM4_chr12_118976541_119168051	119044041	T T	TTTTTTTT others(198): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTTTTTTT TTTGTA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0188 a0001c0001t0014g0188	1	326	0.0031	205	c.132 others(224): Show c.132-58190_132-58189insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TTTTTTTTTTTTTTTTTTTTTGTATTTTT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYK_chr9_90796819_90903549	90884833	G G	GTATGCAC others(198): Show GTATGCACATATACACATATGTGTGTATGCACATATACACATATGTGTGT ATGCACATATACACATATGTGTGTATGCACATATATACATATATACACAT ATGTGTACATATGTGTATATATACATATATATACACATATATATGTATAT ATACACATATGTGAATATGTATATATGTGTTATATATACACATATGTGTA TATGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02717.hp1 NA19072.hp2 HG00438.hp2 HG02717.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0043 a0001c0001t0007 a0001c0001t0017 a0001c0001t0043	a0001c0001t0007g0108 a0001c0001t0017g0319 a0001c0001t0043g0218 a0001c0001t0007g0108 a0001c0001t0017g0319 a0001c0001t0043g0218	3	280	0.0107	205	c.158 others(224): Show c.1582-2913_1582-2912insGCACATATACACATATGTGTGTATGC ACATATACACATATGTGTGTATGCACATATACACATATGTGTGTATGCAC ATATATACATATATACACATATGTGTACATATGTGTATATATACATATAT ATACACATATATATGTATATATACACATATGTGAATATGTATATATGTGT TATATATACACATATGTGTATATGTATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYTL3_chr6_158645054_158769871	158704861	G G	GCAGGGTG others(198): Show GCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCAG GGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCCG GGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGGACCC GGGGCAGGGTGACAGTGAGGGCTATAAGGCCACATAGGGCAGGAGGGACC TGGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	266	0.0038	205	c.395 others(222): Show c.395-2271_395-2270insGGGGCAGGGTGACAGTGAGGGCTGTAAG GCCACATAGGGCAGGAGGGACCCGGGGCAGGGTGACAGTGAGGGCTATAA GGCCACATAGGGCAGGAGGGACCTGGGGACAGGGTGACAGTGAGGGCTGT AAGGCCACATAGGGCAGGAGGGACCCAGGGCAGGGTGACAGTGAGGGCTG TAAGGCCACATAGGGCAGGAGGGACCC	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(198): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	111	0.0090	205	c.-23 others(224): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397817	G G	GAAGGGGA others(198): Show GAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAG GGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGG GGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAG AGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGG AGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0001 a0002c0058t0001	a0002c0058t0001g0103 a0002c0058t0001g0103	1	271	0.0037	205	c.424 others(222): Show c.4243+564_4243+565insTCCCCTCCACCTCCTCCCCCTCTTCCCC CTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTC CCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCT TCCCCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCT CTTCCCCCACCTCCTCCCCCTCCCCTT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCTCC others(198): Show CCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTC CCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTC CCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0117 a0001c0001t0014g0117	1	110	0.0091	205	c.10 others(218): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGAGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46859578	T T	TTTTCGAT others(198): Show TTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCA GAATCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0023 a0001c0001t0010g0023	1	108	0.0093	205	c.638 others(224): Show c.638-19072_638-19071insCGATAGAGGTCCGCGCAGTGCCGTGC CCCTTCCCGGGACCAGAATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCG TGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCACAGTGC CGTGCCCCTTCCCGGGACCAGAATCCTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859578	T T	TTTTCGAT others(198): Show TTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCTGGGACCAGAATC CTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGGGACCA GAATCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA20129.hp2 HG01361.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0018 a0001c0001t0003g0081 a0001c0001t0002g0018 a0001c0001t0003g0081	2	109	0.0183	205	c.638 others(224): Show c.638-19072_638-19071insCGATAGAGGTCCGCGCAGTGCCGTGC CCCTTCCTGGGACCAGAATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGT GCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCG TGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCACAGTGC CGTGCCCCTTCCCGGGACCAGAATCCTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860117	C C	CGTGCCCC others(198): Show CGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTG CCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGT GCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGACCGCGCA GTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGC AGTGCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	79	0.0127	205	c.638 others(224): Show c.638-18486_638-18485insCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGACCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46860251	G G	GATAGAGG others(198): Show GATAGAGGTCCGCACAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCT TTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCC TTTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0003 a0002c0003t0008g0034 a0001c0001t0001g0003 a0002c0003t0008g0034	2	104	0.0192	205	c.638 others(224): Show c.638-18390_638-18389insACAGTGCTGTGCCCCTTCCCGGGACC AGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGA CCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCCATAGAGGTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89907753	G G	GTTTCCAC others(198): Show GTTTCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCAGCTCCCGGC TCCACCTCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTC CAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCACCCACCTCTC TCCTCCCTCCTCCCAGCTCCTGGCTCCACCTCCCAGTTTCCACCTCCAGC TCCAAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	42	0.0238	205	c.179 others(222): Show c.1799+431_1799+432insTTTCCACCTCCCAGCTCCCACCTCCCTC CTCCCTCCTCCAGCTCCCGGCTCCACCTCCAGTTTCCACCTCCCAGCTCC AACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCC ACCTCCCAGCACCCACCTCTCTCCTCCCTCCTCCCAGCTCCTGGCTCCAC CTCCCAGTTTCCACCTCCAGCTCCAAC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17			chr16	TogoVar
TCF3_chr19_1604292_1657615	1629105	C C	CAGGGGGT others(198): Show CAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCATGGGGATGGGGCGGG AAGGGGACAGAAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACAGGGGGTGGAGCGTGAAGGGGACAGCAGAGCTCACAGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACGGGGATGGGGCGGGAAGGGGACAGCAG AGCTCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19005.hp2 HG02071.hp1 NA19005.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0012 a0001c0007t0002 a0001c0007t0012	a0001c0007t0002g0127 a0001c0007t0012g0320 a0001c0007t0002g0127 a0001c0007t0012g0320	2	263	0.0076	205	c.299 others(222): Show c.299-1680_299-1679insTGAGCTCTGCTGTCCCCTTCCCGCCCCA TCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTG CTGTCCCCTTCACGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTTCTGTCCCCTTCCCGCCCCATCCCCATGAGCTC TGCTGTCCCCTTCACGCTCCACCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(198): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCG GGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGA GCTCAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0221 a0001c0005t0002g0221	1	299	0.0033	205	c.299 others(222): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGC TCTGCTGTCCCCTTCCTGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(198): Show GGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCG GGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGA GCTCAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19065.hp2 NA19077.hp1 NA18990.hp1 NA19065.hp2 NA19077.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0079 a0002c0001t0007 a0002c0001t0079	a0002c0001t0007g0063 a0002c0001t0007g0071 a0002c0001t0079g0287 a0002c0001t0007g0063 a0002c0001t0007g0071 a0002c0001t0079g0287	3	301	0.0100	205	c.299 others(222): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENT5A_chr6_81740730_81757681	81740783	A A	AATATGTA others(198): Show AATATGTATCATATTATATACTATATAATATGTATCATATTATATACTAT ATAATATGTATCATATTATATACTATATAATATGTATCATATTATATACT ATATAATATGTTACATATTATATACTATATAATATGTATCATATTATATA CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	444	0.0023	205	c.89 others(216): Show c.8911_*8912insATAGTATATAATATGATACATATTATATAGTATA TAATATGATACATATTATATAGTATATAATATGATACATATTATATAGTA TATAATATGTAACATATTATATAGTATATAATATGATACATATTATATAG TATATAATATGATACATATTATATAGTATATAATATGATACATATTATAT AGTATATAATATGATACATAT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4946		chr6	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACTGCCA others(198): Show GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	336	0.0030	205	c.228 others(224): Show c.2287-1216_2287-1215insTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGG TCTGATGTGTGGTGACTGTGGATGGCAGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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