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
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(23): Show GTATATATATATATGTATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG03688.hp2 HG00438.hp2 HG00673.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0286 a0001c0002t0003g0010 a0001c0002t0003g0039 a0001c0001t0001g0286 a0001c0002t0003g0010 a0001c0002t0003g0039	3	233	0.0129	30	c.264 others(49): Show c.264-39120_264-39119insTATATATACATATATACATATATATA TATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM78B_chr1_166064299_166172001	166109882	G G	GTATATAT others(23): Show GTATATATATATGTATATATGTATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0275 a0001c0001t0001g0198 a0001c0001t0001g0275	2	232	0.0086	30	c.264 others(49): Show c.264-39120_264-39119insTATATATATACATATATACATATATA TATA	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM83E_chr19_48594961_48620076	48616643	C C	CCAGCACA others(23): Show CCAGCACAGCACAGCACAGCACAGCACAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18972.hp1 NA19011.hp1 others(1): Show NA18961.hp1 NA18972.hp1 NA19011.hp1 NA19074.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0002 a0004c0006t0001 a0004c0006t0002	a0004c0006t0001g0010 a0004c0006t0001g0106 a0004c0006t0002g0070 a0004c0006t0001g0010 a0004c0006t0001g0106 a0004c0006t0002g0070	4	205	0.0195	30	c.-31 others(41): Show c.-3124_-3095dupTGCTGTGCTGTGCTGTGCTGTGCTGTGCTG	FAM83E	ENSG00000105523.4	transcript	ENST00000263266.4	protein_coding		1568		chr19	TogoVar
FAM83F_chr22_39989954_40048534	40004267	A A	AATTTTAT others(23): Show AATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01069.hp2 others(17): Show HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01978.hp1 HG02027.hp2 HG02135.hp2 HG02717.hp2 HG02895.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03942.hp2 HG04204.hp1 NA18994.hp2 NA19043.hp2 NA21309.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0012 a0001c0001 a0012c0012	a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 others(6): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0037 a0001c0001t0049 a0001c0001t0050 a0001c0001t0053 a0012c0012t0030	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0087 others(15): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0012g0006 a0001c0001t0012g0120 a0001c0001t0012g0121 a0001c0001t0012g0131 a0001c0001t0013g0193 a0001c0001t0016g0096 a0001c0001t0016g0098 a0001c0001t0037g0006 a0001c0001t0049g0100 a0001c0001t0050g0102 a0001c0001t0053g0099 a0012c0012t0030g0006	20	99	0.2020	30	c.489 others(47): Show c.489+8757_489+8786dupATTTTATTTTATTTTATTTTATTTTATT TT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAN1_chr15_30898915_30948108	30929819	T T	TCATATAT others(23): Show TCATATATAATATAATATATAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01258.hp1 HG02698.hp2 others(1): Show HG00280.hp2 HG01258.hp1 HG02698.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0021 a0001c0001t0004g0088 a0001c0001t0004g0094 others(1): Show a0001c0001t0004g0021 a0001c0001t0004g0088 a0001c0001t0004g0094 a0001c0001t0006g0077	4	269	0.0149	30	c.278 others(47): Show c.2787+422_2787+423insCATATATAATATAATATATAAAATATAT AA	FAN1	ENSG00000198690.10	transcript	ENST00000362065.9	protein_coding	12/14			chr15	TogoVar
FANCA_chr16_89732549_89821647	89759318	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0301 a0003c0003t0002g0301	1	14	0.0714	30	c.285 others(47): Show c.2853-643_2853-614dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	29/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95155257	G G	GAGGGGAG others(23): Show GAGGGGAGGGGAGGAAAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	30	0.0333	30	c.522 others(47): Show c.522-5171_522-5170insTTCCTCCCCTCCCCTTTCCTCCCCTCCC CT	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	6/14			chr9	TogoVar
FANCC_chr9_95094054_95322709	95271927	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	92	0.0109	30	c.-78 others(49): Show c.-78-22559_-78-22558insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCM_chr14_45130930_45205890	45168771	C C	CATAGTAT others(23): Show CATAGTATATATTTTATATATATTAAAATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03139.hp2 HG02486.hp1 HG03139.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0191 a0011c0015t0001g0192 a0011c0015t0001g0191 a0011c0015t0001g0192	2	236	0.0085	30	c.200 others(49): Show c.2002+1621_2002+1650dupTTATATATATTAAAATATATAGTATA TATT	FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
FANCM_chr14_45130930_45205890	45168784	T T	TTATATAT others(23): Show TTATATATATTAAAATATATAGTATATATTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG01891.hp1 HG02976.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0137 a0010c0014t0001g0138 a0010c0014t0001g0137 a0010c0014t0001g0138	2	236	0.0085	30	c.200 others(49): Show c.2002+1626_2002+1655dupTATATTAAAATATATAGTATATATTA TATA	FANCM	ENSG00000187790.12	transcript	ENST00000267430.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
FANK1_chr10_125891564_126014592	125914280	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02965.hp1 others(2): Show HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0076 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0370	5	213	0.0235	30	c.13+ others(47): Show c.13+17637_13+17638insATATATATATATATATATATATATATAT AT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA21309.hp2 NA18975.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0226 a0001c0001t0001g0178 a0001c0001t0001g0226	2	29	0.0690	30	c.13+ others(47): Show c.13+22568_13+22569insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FAR2_chr12_29144278_29340616	29253330	T T	TAGATATC others(23): Show TAGATATCTATATATCTATATCTATCTATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01257.hp1 others(20): Show HG00642.hp2 HG01074.hp1 HG01257.hp1 HG01884.hp1 HG02074.hp2 HG02109.hp2 HG02602.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2 HG03579.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA19009.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002	a0001c0002t0001g0204 a0001c0002t0002g0102 a0001c0002t0002g0108 others(20): Show a0001c0002t0001g0204 a0001c0002t0002g0102 a0001c0002t0002g0108 a0001c0002t0002g0111 a0001c0002t0002g0162 a0001c0002t0002g0170 a0001c0002t0002g0206 a0001c0002t0002g0208 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0243 a0001c0002t0002g0287 a0001c0002t0002g0299 a0001c0002t0002g0317 a0001c0002t0008g0191 a0001c0002t0008g0192 a0001c0004t0002g0200 a0001c0005t0002g0264 a0001c0006t0002g0166	23	324	0.0710	30	c.-38 others(49): Show c.-38-17071_-38-17042dupATATCTATATCTATCTATACAGATAT CTAT	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAR2_chr12_29144278_29340616	29253346	T T	TATATCTA others(23): Show TATATCTATCTAGATAGATATCTATATATCG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	30	c.-38 others(49): Show c.-38-17055_-38-17054insGATAGATATCTATATATCGATATCTA TCTA	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAR2_chr12_29144278_29340616	29308707	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	260	0.0038	30	c.724 others(45): Show c.724-478_724-477insTATATATATATATATATATATATATATATA	FAR2	ENSG00000064763.12	transcript	ENST00000536681.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP1_chr13_98138094_98460176	98277109	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	37	0.0270	30	c.171 others(49): Show c.171+63707_171+63736dupACACACACACACACACACACACACAC ACAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	5	0.2000	30	c.141 others(49): Show c.1414+5962_1414+5963insCACACACACACACACACACACACACA CACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(23): Show AACACACACACACACACACACAGACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	5	0.2000	30	c.141 others(49): Show c.1414+5960_1414+5961insGACACACACACACACACACACACACA CACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	AACACACA others(23): Show AACACACACACACACACAGACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 NA19043.hp1 HG01243.hp1 HG01516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002	a0001c0001t0057g0070 a0001c0002t0001g0032 a0001c0002t0002g0022 a0001c0001t0057g0070 a0001c0002t0001g0032 a0001c0002t0002g0022	3	7	0.4286	30	c.141 others(49): Show c.1414+5956_1414+5957insGACACACACACACACACACACACACA CACA	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98432824	A A	ACTGGAGG others(23): Show ACTGGAGGGTCTGCAGGCAGGTACCTGGGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(75): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18970.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19007.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0017 a0002c0013 a0002c0014 a0005c0016 a0007c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(42): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0016 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0047 a0001c0001t0057 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0073 a0001c0001t0082 a0001c0001t0084 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0034 a0001c0002t0051 a0001c0002t0058 a0001c0002t0075 a0001c0002t0077 a0001c0003t0013 a0001c0003t0024 a0001c0004t0008 a0001c0004t0041 a0001c0006t0003 a0001c0007t0060 a0001c0012t0046 a0001c0017t0019 a0002c0013t0016 a0002c0014t0008 a0005c0016t0004 a0007c0008t0001	a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0003g0040 others(75): Show a0001c0001t0003g0027 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0046 a0001c0001t0003g0055 a0001c0001t0003g0097 a0001c0001t0003g0109 a0001c0001t0004g0128 a0001c0001t0004g0188 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0204 a0001c0001t0005g0053 a0001c0001t0005g0057 a0001c0001t0007g0177 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0014g0116 a0001c0001t0016g0153 a0001c0001t0035g0131 a0001c0001t0042g0172 a0001c0001t0043g0199 a0001c0001t0047g0139 a0001c0001t0057g0070 a0001c0001t0061g0117 a0001c0001t0062g0051 a0001c0001t0063g0026 a0001c0001t0064g0006 a0001c0001t0068g0092 a0001c0001t0069g0075 a0001c0001t0073g0160 a0001c0001t0082g0169 a0001c0001t0084g0023 a0001c0002t0001g0028 a0001c0002t0001g0048 a0001c0002t0001g0062 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0093 a0001c0002t0001g0115 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0202 a0001c0002t0003g0065 a0001c0002t0006g0045 a0001c0002t0006g0104 a0001c0002t0006g0108 a0001c0002t0008g0113 a0001c0002t0008g0155 a0001c0002t0009g0173 a0001c0002t0009g0181 a0001c0002t0010g0210 a0001c0002t0010g0217 a0001c0002t0012g0138 a0001c0002t0012g0186 a0001c0002t0034g0165 a0001c0002t0051g0018 a0001c0002t0058g0072 a0001c0002t0075g0037 a0001c0002t0077g0152 a0001c0003t0013g0010 a0001c0003t0013g0149 a0001c0003t0013g0208 a0001c0003t0024g0180 a0001c0003t0024g0205 a0001c0004t0008g0058 a0001c0004t0008g0107 a0001c0004t0041g0185 a0001c0006t0003g0102 a0001c0007t0060g0068 a0001c0012t0046g0008 a0001c0017t0019g0176 a0002c0013t0016g0111 a0002c0014t0008g0089 a0005c0016t0004g0137 a0007c0008t0001g0029	78	207	0.3768	30	c.214 others(49): Show c.2143+1573_2143+1602dupTGCTGGAGGGTCTGCAGGCAGGTACC TGGG	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARP1_chr13_98138094_98460176	98432855	C C	CTGGAGGG others(23): Show CTGGAGGGTCTGCAGGCAGGTACCTGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0132 a0001c0004t0002g0132	1	216	0.0046	30	c.214 others(49): Show c.2143+1602_2143+1603insTGGTGGAGGGTCTGCAGGCAGGTACC TGGG	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FARS2_chr6_5256513_5776583	5407043	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG01496.hp2 others(2): Show HG00140.hp2 HG01243.hp2 HG01496.hp2 HG02572.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0121 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0170	5	94	0.0532	30	c.772 others(47): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA TA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5407066	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01258.hp1 others(4): Show HG00558.hp1 HG00621.hp2 HG01258.hp1 HG03195.hp2 HG04199.hp1 HG04199.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0001c0001t0001 a0002c0002t0001 a0002c0006t0001	a0001c0001t0001g0079 a0002c0002t0001g0013 a0002c0002t0001g0022 others(4): Show a0001c0001t0001g0079 a0002c0002t0001g0013 a0002c0002t0001g0022 a0002c0002t0001g0037 a0002c0002t0001g0051 a0002c0002t0001g0083 a0002c0006t0001g0065	7	112	0.0625	30	c.772 others(47): Show c.772+2366_772+2367insTATATATATATATATATATATATATATA AA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0001 a0001c0001t0002 a0001c0007t0001	a0001c0001t0002g0167 a0001c0007t0001g0038 a0001c0001t0002g0167 a0001c0007t0001g0038	2	60	0.0333	30	c.905 others(47): Show c.905-5781_905-5780insATATATATATATATATATATATATATAT AT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	59	0.0169	30	c.905 others(47): Show c.905-5795_905-5794insGTATATATATATATATATATATATATAT AT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5539384	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	59	0.0169	30	c.905 others(47): Show c.905-5795_905-5794insGTGTATATATATATATATATATATATAT AT	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717929	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	141	0.0071	30	c.121 others(51): Show c.1218-53361_1218-53360insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	85	0.0118	30	c.121 others(51): Show c.1218-53355_1218-53354insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG04115.hp1 HG02723.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0002 a0001c0001t0001 a0002c0008t0002	a0001c0001t0001g0073 a0002c0008t0002g0168 a0001c0001t0001g0073 a0002c0008t0002g0168	2	86	0.0233	30	c.121 others(51): Show c.1218-53355_1218-53354insTAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	85	0.0118	30	c.121 others(51): Show c.1218-53355_1218-53354insTATATAGAGAGAGAGAGAGAGAGA GAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FARS2_chr6_5256513_5776583	5717935	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	85	0.0118	30	c.121 others(51): Show c.1218-53355_1218-53354insTATATATAGAGAGAGAGAGAGAGA GAGAGA	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASN_chr17_82073338_82103236	82089422	G G	GGCACCCA others(23): Show GGCACCCACCTCAGGCTCGGAGAGGTAGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0069 a0005c0069	a0005c0069t0001 a0005c0069t0001	a0005c0069t0001g0180 a0005c0069t0001g0180	1	418	0.0024	30	c.196 others(45): Show c.1966-68_1966-39dupGCCCTACCTCTCCGAGCCTGAGGTGGGTGC	FASN	ENSG00000169710.9	transcript	ENST00000306749.4	protein_coding	12/42			chr17	TogoVar
FAT2_chr5_151499092_151596331	151534970	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18954.hp1 NA18954.hp2 others(3): Show HG02818.hp2 NA18954.hp1 NA18954.hp2 NA18982.hp2 NA19005.hp2 NA20905.hp2	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0013 a0023	a0001c0003 a0001c0004 a0006c0005 others(3): Show a0001c0003 a0001c0004 a0006c0005 a0007c0022 a0013c0024 a0023c0147	a0001c0003t0001 a0001c0004t0001 a0006c0005t0002 others(3): Show a0001c0003t0001 a0001c0004t0001 a0006c0005t0002 a0007c0022t0002 a0013c0024t0007 a0023c0147t0014	a0001c0003t0001g0267 a0001c0004t0001g0327 a0006c0005t0002g0149 others(3): Show a0001c0003t0001g0267 a0001c0004t0001g0327 a0006c0005t0002g0149 a0007c0022t0002g0013 a0013c0024t0007g0285 a0023c0147t0014g0060	6	46	0.1304	30	c.919 others(47): Show c.9194-329_9194-328insATATATATATATATATATATATATATAT AT	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	12/23			chr5	TogoVar
FAT2_chr5_151499092_151596331	151554731	C C	CTTTGCCA others(23): Show CTTTGCCACCCACCACAGCCCTACCACCACT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03471.hp2 NA19030.hp1 HG03041.hp2 HG03471.hp2 NA19030.hp1	a0053 a0057 a0070 a0053 a0057 a0070	a0053c0177 a0057c0176 a0070c0112 a0053c0177 a0057c0176 a0070c0112	a0053c0177t0001 a0057c0176t0006 a0070c0112t0001 a0053c0177t0001 a0057c0176t0006 a0070c0112t0001	a0053c0177t0001g0383 a0057c0176t0006g0200 a0070c0112t0001g0080 a0053c0177t0001g0383 a0057c0176t0006g0200 a0070c0112t0001g0080	3	396	0.0076	30	c.363 others(45): Show c.3634-59_3634-58insAGTGGTGGTAGGGCTGTGGTGGGTGGCAAA	FAT2	ENSG00000086570.13	transcript	ENST00000261800.6	protein_coding	4/23			chr5	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0031 a0031	a0031c0056 a0031c0056	a0031c0056t0071 a0031c0056t0071	a0031c0056t0071g0020 a0031c0056t0071g0020	1	59	0.0169	30	c.367 others(49): Show c.3670-8057_3670-8056insGTATATATATATATATATATATATAT ATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92753798	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02080.hp2 HG02615.hp1 others(6): Show HG01099.hp1 HG02080.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp2 NA19060.hp1	a0004 a0012 a0023 others(3): Show a0004 a0012 a0023 a0025 a0028 a0040	a0004c0012 a0004c0049 a0004c0062 others(5): Show a0004c0012 a0004c0049 a0004c0062 a0012c0023 a0023c0075 a0025c0047 a0028c0074 a0040c0067	a0004c0012t0002 a0004c0012t0004 a0004c0049t0012 others(6): Show a0004c0012t0002 a0004c0012t0004 a0004c0049t0012 a0004c0062t0059 a0012c0023t0003 a0023c0075t0063 a0025c0047t0011 a0028c0074t0085 a0040c0067t0060	a0004c0012t0002g0052 a0004c0012t0004g0033 a0004c0049t0012g0080 others(6): Show a0004c0012t0002g0052 a0004c0012t0004g0033 a0004c0049t0012g0080 a0004c0062t0059g0118 a0012c0023t0003g0093 a0023c0075t0063g0102 a0025c0047t0011g0063 a0028c0074t0085g0014 a0040c0067t0060g0032	9	67	0.1343	30	c.367 others(49): Show c.3670-8057_3670-8056insGTGTGTGTATATATATATATATATAT ATAT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT4_chr4_125309955_125497932	125440610	T T	TGTGTGTG others(23): Show TGTGTGTGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0122 a0005c0004t0002g0122	1	14	0.0714	30	c.720 others(49): Show c.7200-5682_7200-5681insTGTGTGTGAGAGAGAGAGAGAGAGAG AGAG	FAT4	ENSG00000196159.14	transcript	ENST00000394329.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAXDC2_chr5_154813492_154855603	154825120	T T	TTTGGGAA others(23): Show TTTGGGAAGCCAAGGTGGGCAGGTTATGAGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	308	0.0032	30	c.367 others(47): Show c.367-1558_367-1529dupCCTCATAACCTGCCCACCTTGGCTTCCC AA	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	37	0.0270	30	c.367 others(47): Show c.367-2059_367-2058insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FBLN1_chr22_45497883_45606135	45534292	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	4	0.2500	30	c.784 others(45): Show c.784+422_784+423insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45555248	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04115.hp2 HG04199.hp1 HG02738.hp2 HG04115.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0011g0060 a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0011g0060	3	168	0.0179	30	c.169 others(49): Show c.1697+4650_1697+4651insTATATATATATATATATATATATATA TATA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45596603	T T	TATTATAT others(23): Show TATTATATACATATATCAACATAATAATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	30	c.197 others(49): Show c.1973-3703_1973-3702insTTATATACATATATCAACATAATAAT ATAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
FBLN1_chr22_45497883_45606135	45602817	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02965.hp1 HG02622.hp2 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0007 a0001c0006t0001 a0001c0005t0007 a0001c0006t0001	a0001c0005t0007g0085 a0001c0006t0001g0192 a0001c0005t0007g0085 a0001c0006t0001g0192	2	57	0.0351	30	c.23 others(41): Show c.2371_*2372insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13585527	T T	TGAAGGAG others(23): Show TGAAGGAGCTGAAAAAATGCCTTTTGCCTAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0005 a0001c0033t0005	a0001c0033t0005g0228 a0001c0033t0005g0228	1	310	0.0032	30	c.130 others(51): Show c.1306+13881_1306+13882insATGCCTTTTGCCTAGGAAGGAGCT GAAAAA	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01891.hp1 others(9): Show HG00597.hp1 HG00621.hp2 HG01891.hp1 HG02148.hp1 HG02559.hp2 HG02572.hp1 HG02886.hp2 HG03688.hp2 NA18612.hp1 NA19010.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0004 a0001c0007 others(5): Show a0001c0003 a0001c0004 a0001c0007 a0001c0019 a0002c0001 a0002c0002 a0004c0014 a0004c0058	a0001c0003t0008 a0001c0004t0001 a0001c0004t0005 others(7): Show a0001c0003t0008 a0001c0004t0001 a0001c0004t0005 a0001c0007t0002 a0001c0019t0001 a0002c0001t0002 a0002c0002t0001 a0004c0014t0002 a0004c0014t0010 a0004c0058t0010	a0001c0003t0008g0193 a0001c0004t0001g0253 a0001c0004t0005g0234 others(9): Show a0001c0003t0008g0193 a0001c0004t0001g0253 a0001c0004t0005g0234 a0001c0007t0002g0092 a0001c0007t0002g0167 a0001c0019t0001g0257 a0002c0001t0002g0142 a0002c0002t0001g0119 a0002c0002t0001g0183 a0004c0014t0002g0281 a0004c0014t0010g0270 a0004c0058t0010g0011	12	31	0.3871	30	c.321 others(49): Show c.3215-2479_3215-2450dupCACACACACACACACACACACACACA CACA	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00738.hp2 others(9): Show HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01884.hp1 HG01884.hp2 HG02572.hp1 HG02717.hp2 HG02818.hp1 HG03209.hp1 HG03209.hp2 NA18906.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0003c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(9): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0002g0012 a0001c0001t0002g0272 a0001c0001t0003g0049 a0001c0001t0003g0275 a0001c0001t0005g0136 a0001c0001t0005g0240 a0003c0003t0001g0042	12	108	0.1111	30	c.-37 others(41): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBLN7_chr2_112133385_112193218	112167869	C C	CGTTATGT others(23): Show CGTTATGTTATGTTATGTTATGTTATGTTAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp1 HG01257.hp2 others(7): Show HG01175.hp1 HG01256.hp1 HG01257.hp2 HG02080.hp2 HG03710.hp1 HG03710.hp2 HG04228.hp1 NA18969.hp1 NA18969.hp2 NA18989.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0001 a0001c0001t0003 a0010c0013t0001 a0001c0001t0001 a0001c0001t0003 a0010c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0172 a0001c0001t0003g0086 a0010c0013t0001g0221	10	51	0.1961	30	c.406 others(47): Show c.406+2722_406+2751dupATGTTATGTTATGTTATGTTATGTTATG TT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN1_chr15_48403313_48650709	48435772	A A	ATATATGT others(23): Show ATATATGTGTGTATATATATGTATATATGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp2 HG02809.hp2 others(6): Show HG01167.hp1 HG02615.hp2 HG02809.hp2 HG02922.hp1 HG02970.hp2 HG03516.hp1 HG04204.hp2 NA18522.hp2 NA19043.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0011c0019t0012	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0078 others(6): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0211 a0001c0001t0012g0103 a0001c0001t0012g0104 a0011c0019t0012g0111	9	178	0.0506	30	c.649 others(49): Show c.6497-1060_6497-1059insCACATATATACATATATATACACACA TATA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	53/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48469080	A A	AAAATATA others(23): Show AAAATATATATATATAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0010 a0001c0024t0010	a0001c0024t0010g0192 a0001c0024t0010g0192	1	245	0.0041	30	c.446 others(47): Show c.4460-547_4460-546insATATATATTATATTTTATATATATATAT TT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	36/65			chr15	TogoVar
FBN1_chr15_48403313_48650709	48469080	A A	AATATATA others(23): Show AATATATATATATATAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01123.hp2 others(27): Show HG00621.hp2 HG00673.hp2 HG01123.hp2 HG01192.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG02027.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp2 HG02809.hp1 HG02886.hp2 HG03098.hp2 HG03471.hp1 HG03490.hp1 HG03688.hp2 HG04115.hp2 HG04228.hp2 NA18747.hp1 NA18945.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18981.hp2 NA18994.hp2 NA19007.hp1 NA19081.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0012 a0002c0009 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0024 a0001c0001t0026 a0001c0002t0002 a0001c0004t0010 a0001c0005t0002 a0001c0012t0010 a0002c0009t0001 a0006c0014t0001	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 others(27): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0225 a0001c0001t0002g0088 a0001c0001t0015g0094 a0001c0001t0015g0273 a0001c0001t0024g0102 a0001c0001t0026g0228 a0001c0002t0002g0085 a0001c0002t0002g0127 a0001c0004t0010g0014 a0001c0005t0002g0199 a0001c0012t0010g0019 a0002c0009t0001g0208 a0002c0009t0001g0209 a0006c0014t0001g0224	30	274	0.1095	30	c.446 others(47): Show c.4460-547_4460-546insATATATATTATATTTTATATATATATAT AT	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	36/65			chr15	TogoVar

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